Alvaro Monteiro, PhD
Alvaro Monteiro, PhD
Program: Cancer Epidemiology
Research Program: Cancer Epidemiology Program
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Overview
The main theme of the Monteiro lab is the integration of epidemiological, genomic, and proteomics datasets to explore the role of genetic variation on cancer predisposition, development, and treatment. We apply a systems biology approach to three interconnected problems in cancer.
Associations
- Cancer Epidemiology
- Thoracic Oncology
- Lung Cancer Center of Excellence
- Cancer Epidemiology Program
- Systems Medicine Working Group
- Center for Immunization & Infection Research in Cancer
Education & Training
Graduate:
- Federal University of Rio de Janeiro, MSc - Biochemistry
- Federal University of Rio de Janeiro, PhD - Biochemistry
Fellowship:
- The Rockefeller University - Molecular Oncology
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Research Interest
First, we aim to understand how rare genetic variation impacts on signal transduction networks and its role in inherited cancer syndromes. We focus on the role of BRCA1, BRCA2, and PALB2 in cancer and integrate statistical, structural, and functional data to aid in clinical annotation of thousands of variants found in the population. Our group pioneered the use of functional assays to analyze mutations in the BRCA1 BRCT domain and has developed computation models to predict their functional impact. These approaches have a significant impact in the classification of a large number of genetic variants for which cancer association could not be determined by genetic approaches alone. We have also developed interactive visualization tools to functionally annotate variants in cancer predisposition genes (http://iscva.moffitt.org/fyi-hboc/build/). Second, we seek to understand how BRCT domains convey signals during the cellular response to DNA Damage. We combine detailed literature curation, large scale yeast two-hybrid screening and tandem-affinity purification coupled to mass spectrometry to generate an annotated protein-protein interaction network mediated by all BRCT domains in the human proteome. We aim to use these protein-protein interaction maps as drug and target discovery platform. Finally, we are interested in the mechanism underlying cancer risk conferred by common genetic variants. We played an active role in the NIH/NCI GAME-ON (Genetic Associations and Mechanisms in Oncology; http://epi.grants.cancer.gov/gameon/) consortium as part of the cross-GAME-ON Functional Working group. We have developed a conceptual framework and a bioinformatics and functional assay platforms to systematically interrogate cancer predisposition loci revealed by GWAS of unprecedented sample sizes. We apply this analytical framework to loci conferring risk for brain, breast, ovarian, and testicular cancer.
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Publications
- Parsons MT, de la Hoya M, Richardson ME, Tudini E, Anderson M, Berkofsky-Fessler W, Caputo SM, Chan RC, Cline MS, Feng BJ, Fortuno C, Gomez-Garcia E, Hadler J, Hiraki S, Holdren M, Houdayer C, Hruska K, James P, Karam R, Leong HS, Martins A, Mensenkamp AR, Monteiro AN, Nathan V, O'Connor R, Pedersen IS, Pesaran T, Radice P, Schmidt G, Southey M, Tavtigian S, Thompson BA, Toland AE, Turnbull C, Vogel MJ, Weyandt J, Wiggins GAR, Zec L, Couch FJ, Walker LC, Vreeswijk MPG, Goldgar DE, Spurdle AB. Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel. Am J Hum Genet. 2024 Sep.111(9):2044-2058. Pubmedid: 39142283. Pmcid: PMC11393667.
- Richardson ME, Holdren M, Brannan T, de la Hoya M, Spurdle AB, Tavtigian SV, Young CC, Zec L, Hiraki S, Anderson MJ, Walker LC, McNulty S, Turnbull C, Tischkowitz M, Schon K, Slavin T, Foulkes WD, Cline M, Monteiro AN, Pesaran T, Couch FJ. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants. Am J Hum Genet. 2024 Sep. Pubmedid: 39317201.
- Nepomuceno TC, Lyra P, Zhu J, Yi F, Martin RH, Lupu D, Peterson L, Peres LC, Berry A, Iversen ES, Couch FJ, Mo Q, Monteiro AN. Assessment of BRCA1 and BRCA2 Germline Variant Data From Patients With Breast Cancer in a Real-World Data Registry. JCO Clin Cancer Inform. 2024 May.8:e2300251. Pubmedid: 38709234. Pmcid: PMC11161245.
- Richardson ME, Holdren M, Brannan T, de la Hoya M, Spurdle AB, Tavtigian SV, Young CC, Zec L, Hiraki S, Anderson MJ, Walker LC, McNulty S, Turnbull C, Tischkowitz M, Schon K, Slavin T, Foulkes WD, Cline M, Monteiro AN, Pesaran T, Couch FJ. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants. medRxiv. 2024 May. Pubmedid: 38854136. Pmcid: PMC11160822.
- Ramachandran D, Tyrer JP, Kommoss S, DeFazio A, Riggan MJ, Webb PM, Fasching PA, Lambrechts D, García MJ, Rodríguez-Antona C, Goodman MT, Modugno F, Moysich KB, Karlan BY, Lester J, Kjaer SK, Jensen A, Høgdall E, Goode EL, Cliby WA, Kumar A, Wang C, Cunningham JM, Winham SJ, Monteiro AN, Schildkraut JM, Cramer DW, Terry KL, Titus L, Bjorge L, Thomsen LCV, Pejovic T, Høgdall CK, McNeish IA, May T, Huntsman DG, Pfisterer J, Canzler U, Park-Simon TW, Schröder W, Belau A, Hanker L, Harter P, Sehouli J, Kimmig R, de Gregorio N, Schmalfeldt B, Baumann K, Hilpert F, Burges A, Winterhoff B, Schürmann P, Speith LM, Hillemanns P, Berchuck A, Johnatty SE, Ramus SJ, Chenevix-Trench G, Pharoah PDP, Dörk T, Heitz F. Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease. NPJ Genom Med. 2024 Mar.9(1):19. Pubmedid: 38443389. Pmcid: PMC10915171.
- Barnes DR, Tyrer JP, Dennis J, Leslie G, Bolla MK, Lush M, Aeilts AM, Aittomäki K, Andrieu N, Andrulis IL, Anton-Culver H, Arason A, Arun BK, Balmaña J, Bandera EV, Barkardottir RB, Berger LPV, de Gonzalez AB, Berthet P, Białkowska K, Bjørge L, Blanco AM, Blok MJ, Bobolis KA, Bogdanova NV, Brenton JD, Butz H, Buys SS, Caligo MA, Campbell I, Castillo C, Claes KBM, Colonna SV, Cook LS, Daly MB, Dansonka-Mieszkowska A, de la Hoya M, deFazio A, DePersia A, Ding YC, Domchek SM, Dörk T, Einbeigi Z, Engel C, Evans DG, Foretova L, Fortner RT, Fostira F, Foti MC, Friedman E, Frone MN, Ganz PA, Gentry-Maharaj A, Glendon G, Godwin AK, González-Neira A, Greene MH, Gronwald J, Guerrieri-Gonzaga A, Hamann U, Hansen TVO, Harris HR, Hauke J, Heitz F, Hogervorst FBL, Hooning MJ, Hopper JL, Huff CD, Huntsman DG, Imyanitov EN, Izatt L, Jakubowska A, James PA, Janavicius R, John EM, Kar S, Karlan BY, Kennedy CJ, Kiemeney LALM, Konstantopoulou I, Kupryjanczyk J, Laitman Y, Lavie O, Lawrenson K, Lester J, Lesueur F, Lopez-Pleguezuelos C, Mai PL, Manoukian S, May T, McNeish IA, Menon U, Milne RL, Modugno F, Mongiovi JM, Montagna M, Moysich KB, Neuhausen SL, Nielsen FC, Noguès C, Oláh E, Olopade OI, Osorio A, Papi L, Pathak H, Pearce CL, Pedersen IS, Peixoto A, Pejovic T, Peng PC, Peshkin BN, Peterlongo P, Powell CB, Prokofyeva D, Pujana MA, Radice P, Rashid MU, Rennert G, Richenberg G, Sandler DP, Sasamoto N, Setiawan VW, Sharma P, Sieh W, Singer CF, Snape K, Sokolenko AP, Soucy P, Southey MC, ...
- Dareng EO, Coetzee SG, Tyrer JP, Peng PC, Rosenow W, Chen S, Davis BD, Dezem FS, Seo JH, Nameki R, Reyes AL, Aben KKH, Anton-Culver H, Antonenkova NN, Aravantinos G, Bandera EV, Beane Freeman LE, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bolton KL, Brenton JD, Budzilowska A, Butzow R, Cai H, Campbell I, Cannioto R, Chang-Claude J, Chanock SJ, Chen K, Chenevix-Trench G, Chiew YE, Cook LS, DeFazio A, Dennis J, Doherty JA, Dörk T, du Bois A, Dürst M, Eccles DM, Ene G, Fasching PA, Flanagan JM, Fortner RT, Fostira F, Gentry-Maharaj A, Giles GG, Goodman MT, Gronwald J, Haiman CA, Håkansson N, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Huang RY, Jensen A, Jones ME, Kang D, Karlan BY, Karnezis AN, Kelemen LE, Kennedy CJ, Khusnutdinova EK, Kiemeney LA, Kjaer SK, Kupryjanczyk J, Labrie M, Lambrechts D, Larson MC, Le ND, Lester J, Li L, Lubiński J, Lush M, Marks JR, Matsuo K, May T, McLaughlin JR, McNeish IA, Menon U, Missmer S, Modugno F, Moffitt M, Monteiro AN, Moysich KB, Narod SA, Nguyen-Dumont T, Odunsi K, Olsson H, Onland-Moret NC, Park SK, Pejovic T, Permuth JB, Piskorz A, Prokofyeva D, Riggan MJ, Risch HA, Rodríguez-Antona C, Rossing MA, Sandler DP, Setiawan VW, Shan K, Song H, Southey MC, Steed H, Sutphen R, Swerdlow AJ, Teo SH, Terry KL, Thompson PJ, Vestrheim Thomsen LC, Titus L, Trabert B, Travis R, Tworoger SS, Valen E, Van Nieuwenhuysen E, Edwards DV, Vierkant RA, Webb PM, Weinberg CR, Weise RM, Wentzensen N, Whit ...
- Mota MBS, Woods NT, Carvalho MA, Monteiro ANA, Mesquita RD. Evolution of the triplet BRCT domain. DNA Repair (Amst). 2023 Sep.129:103532. Pubmedid: 37453244.
- Nepomuceno TC, Foo TK, Richardson ME, Ranola JMO, Weyandt J, Varga MJ, Alarcon A, Gutierrez D, von Wachenfeldt A, Eriksson D, Kim R, Armel S, Iversen E, Couch FJ, Borg Å, Xia B, Carvalho MA, Monteiro ANA. BRCA1 frameshift variants leading to extended incorrect protein C termini. HGG Adv. 2023 Oct.4(4):100240. Pubmedid: 37718511. Pmcid: PMC10558845.
- Park MA, Zaw T, Yoder SJ, Gomez M, Genilo-Delgado M, Basinski T, Katende E, Dam A, Mok SRS, Monteiro A, Mohammadi A, Jeong DK, Jiang K, Centeno BA, Hodul P, Malafa M, Fleming J, Chen DT, Mo Q, Teer JK, Permuth JB. A pilot study to evaluate tissue- and plasma-based DNA driver mutations in a cohort of patients with pancreatic intraductal papillary mucinous neoplasms. G3 (Bethesda). 2023 Feb.13(2). Pubmedid: 36454217. Pmcid: PMC9911050.
- Stolarova L, Kleiblova P, Zemankova P, Stastna B, Janatova M, Soukupova J, Achatz MI, Ambrosone C, Apostolou P, Arun BK, Auer P, Barnard M, Bertelsen B, Blok MJ, Boddicker N, Brunet J, Burnside ES, Calvello M, Campbell I, Chan SH, Chen F, Chiang JB, Coppa A, Cortesi L, Crujeiras-González A, De Leeneer K, De Putter R, DePersia A, Devereux L, Domchek S, Efremidis A, Engel C, Ernst C, Evans DGR, Feliubadaló L, Fostira F, Fuentes-Ríos O, Gómez-García EB, González S, Haiman C, Hansen TVO, Hauke J, Hodge J, Hu C, Huang H, Ishak NDB, Iwasaki Y, Konstantopoulou I, Kraft P, Lacey J, Lázaro C, Li N, Lim WK, Lindstrom S, Lori A, Martinez E, Martins A, Matsuda K, Matullo G, McInerny S, Michailidou K, Montagna M, Monteiro ANA, Mori L, Nathanson K, Neuhausen SL, Nevanlinna H, Olson JE, Palmer J, Pasini B, Patel A, Piane M, Poppe B, Radice P, Renieri A, Resta N, Richardson ME, Rosseel T, Ruddy KJ, Santamariña M, Dos Santos ES, Teras L, Toland AE, Trentham-Dietz A, Vachon CM, Volk AE, Weber-Lassalle N, Weitzel JN, Wiesmuller L, Winham S, Yadav S, Yannoukakos D, Yao S, Zampiga V, Zethoven M, Zhang ZW, Zima T, Spurdle AB, Vega A, Rossing M, Del Valle J, De Nicolo A, Hahnen E, Claes KBM, Ngeow J, Momozawa Y, James PA, Couch FJ, Macurek L, Kleibl Z. ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk. Clin Cancer Res. 2023 Aug.29(16):3037-3050. Pubmedid: 37449874. Pmcid: PMC10425727.
- Hu C, Susswein LR, Roberts ME, Yang H, Marshall ML, Hiraki S, Berkofsky-Fessler W, Gupta S, Shen W, Dunn CA, Huang H, Na J, Domchek SM, Yadav S, Monteiro ANA, Polley EC, Hart SN, Hruska KS, Couch FJ. Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay. Clin Cancer Res. 2022 Sep.28(17):3742-3751. Pubmedid: 35736817. Pmcid: PMC9433957.
- Nepomuceno TC, Dos Santos APP, Fernandes VC, Elias ABR, Gomes TT, Suarez-Kurtz G, Iversen ES, Couch FJ, Monteiro ANA, Carvalho MA. Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay. Sci Rep. 2022 Sep.12(1):16203. Pubmedid: 36171434. Pmcid: PMC9519549.
- Xia B, Biswas K, Foo TK, Gomes TT, Riedel-Topper M, Southon E, Kang Z, Huo Y, Reid S, Stauffer S, Zhou W, Zhu B, Koka H, Yepes S, Brodie SA, Jones K, Vogt A, Zhu B, Carter B, Freedman ND, Hicks B, Yeager M, Chanock SJ, Couch F, Parry DM, Monteiro AN, Goldstein AM, Carvalho MA, Sharan SK, Yang XR. Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma. Hum Mutat. 2022 Oct.43(10):1396-1407. Pubmedid: 35762214. Pmcid: PMC9444938.
- Deng O, Dash S, Nepomuceno TC, Fang B, Yun SY, Welsh EA, Lawrence HR, Marchion D, Koomen JM, Monteiro AN, Rix U. Integrated proteomics identifies PARP inhibitor-induced prosurvival signaling changes as potential vulnerabilities in ovarian cancer. J Biol Chem. 2022 Nov.298(11):102550. Pubmedid: 36183837. Pmcid: PMC9636579.
- DeVries AA, Dennis J, Tyrer JP, Peng PC, Coetzee SG, Reyes AL, Plummer JT, Davis BD, Chen SS, Dezem FS, Aben KKH, Anton-Culver H, Antonenkova NN, Beckmann MW, Beeghly-Fadiel A, Berchuck A, Bogdanova NV, Bogdanova-Markov N, Brenton JD, Butzow R, Campbell I, Chang-Claude J, Chenevix-Trench G, Cook LS, DeFazio A, Doherty JA, Dörk T, Eccles DM, Eliassen AH, Fasching PA, Fortner RT, Giles GG, Goode EL, Goodman MT, Gronwald J, Håkansson N, Hildebrandt MAT, Huff C, Huntsman DG, Jensen A, Kar S, Karlan BY, Khusnutdinova EK, Kiemeney LA, Kjaer SK, Kupryjanczyk J, Labrie M, Lambrechts D, Le ND, Lubiński J, May T, Menon U, Milne RL, Modugno F, Monteiro AN, Moysich KB, Odunsi K, Olsson H, Pearce CL, Pejovic T, Ramus SJ, Riboli E, Riggan MJ, Romieu I, Sandler DP, Schildkraut JM, Setiawan VW, Sieh W, Song H, Sutphen R, Terry KL, Thompson PJ, Titus L, Tworoger SS, Van Nieuwenhuysen E, Edwards DV, Webb PM, Wentzensen N, Whittemore AS, Wolk A, Wu AH, Ziogas A, Freedman ML, Lawrenson K, Pharoah PDP, Easton DF, Gayther SA, Jones MR. Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci. J Natl Cancer Inst. 2022 Nov.114(11):1533-1544. Pubmedid: 36210504. Pmcid: PMC9949586.
- Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S, Cook LS, Couch FJ, Daly MB, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding YC, Doherty JA, Domchek SM, Dörk T, du Bois A, Dürst M, Eccles DM, Eliassen HA, Engel C, Evans GD, Fasching PA, Flanagan JM, Fortner RT, Machackova E, Friedman E, Ganz PA, Garber J, Gensini F, Giles GG, Glendon G, Godwin AK, Goodman MT, Greene MH, Gronwald J, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harris HR, Hartman M, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Hopper JL, Huang RY, Huff C, Hulick PJ, Huntsman DG, Imyanitov EN, Isaacs C, Jakubowska A, James PA, Janavicius R, Jensen A, Johannsson OT, John EM, Jones ME, Kang D, Karlan BY, Karnezis A, Kelemen LE, Khusnutdinova E, Kiemeney LA, Kim BG, Kjaer SK, Komenaka I, Kupryjanczyk J, Kurian AW, Kwong A, Lambrechts D, Larson MC, Lazaro C, Le ND, Leslie G, Lester J, Lesueur F, Levine DA, Li L, Li J, Loud JT, Lu KH, Lubiński J, Mai PL, Manoukian S, Marks JR, Matsuno RK, Mats ...
- Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S, Cook LS, Couch FJ, Daly MB, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding YC, Doherty JA, Domchek SM, Dörk T, du Bois A, Dürst M, Eccles DM, Eliassen HA, Engel C, Evans GD, Fasching PA, Flanagan JM, Fortner RT, Machackova E, Friedman E, Ganz PA, Garber J, Gensini F, Giles GG, Glendon G, Godwin AK, Goodman MT, Greene MH, Gronwald J, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harris HR, Hartman M, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Hopper JL, Huang RY, Huff C, Hulick PJ, Huntsman DG, Imyanitov EN, Isaacs C, Jakubowska A, James PA, Janavicius R, Jensen A, Johannsson OT, John EM, Jones ME, Kang D, Karlan BY, Karnezis A, Kelemen LE, Khusnutdinova E, Kiemeney LA, Kim BG, Kjaer SK, Komenaka I, Kupryjanczyk J, Kurian AW, Kwong A, Lambrechts D, Larson MC, Lazaro C, Le ND, Leslie G, Lester J, Lesueur F, Levine DA, Li L, Li J, Loud JT, Lu KH, Lubiński J, Mai PL, Manoukian S, Marks JR, Matsuno RK, Mats ...
- Iversen ES, Lipton G, Hart SN, Lee KY, Hu C, Polley EC, Pesaran T, Yussuf A, LaDuca H, Chao E, Karam R, Goldgar DE, Couch FJ, Monteiro ANA. An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance. NPJ Genom Med. 2022 Jun.7(1):35. Pubmedid: 35665744. Pmcid: PMC9166814.
- Abreu RBV, Gomes TT, Nepomuceno TC, Li X, Fuchshuber-Moraes M, De Gregoriis G, Suarez-Kurtz G, Monteiro ANA, Carvalho MA. Functional Restoration of BRCA1 Nonsense Mutations by Aminoglycoside-Induced Readthrough. Front Pharmacol. 2022 Jun.13:935995. Pubmedid: 35837282. Pmcid: PMC9273842.
- Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady A, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Lotte Christensen L, Cini G, Claes KBM, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Chun Ding Y, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Gareth Evans D, Feliubadaló L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J, Izatt L, Izquierdo A, James PA, Janavicius R, Birk Jensen U, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernández A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morrison PJ, Muranen TA, Murray A, Nathanson KL, Neuhausen SL, Nevanlinna H, Nguyen-Dumont T, Niederacher D, Olah E, Olopade OI, Palli D, Parsons MT, Sokilde Pedersen I, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Angel Pujana M, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Rønlund K, Rump A, María Sánchez de Abajo A, Shah PD, Sha ...
- Palve V, Knezevic CE, Bejan DS, Luo Y, Li X, Novakova S, Welsh EA, Fang B, Kinose F, Haura EB, Monteiro AN, Koomen JM, Cohen MS, Lawrence HR, Rix U. The non-canonical target PARP16 contributes to polypharmacology of the PARP inhibitor talazoparib and its synergy with WEE1 inhibitors. Cell Chem Biol. 2022 Feb.29(2):202-214.e7. Pubmedid: 34329582. Pmcid: PMC8782927.
- Fasching PA, Liu D, Scully S, Ingle JN, Lyra PC, Rack B, Hein A, Ekici AB, Reis A, Schneeweiss A, Tesch H, Fehm TN, Heinrich G, Beckmann MW, Ruebner M, Huebner H, Lambrechts D, Madden E, Shen J, Romm J, Doheny K, Jenkins GD, Carlson EE, Li L, Fridley BL, Cunningham JM, Janni W, Monteiro ANA, Schaid DJ, Häberle L, Weinshilboum RM, Wang L. Identification of Two Genetic Loci Associated with Leukopenia after Chemotherapy in Patients with Breast Cancer. Clin Cancer Res. 2022 Aug.28(15):3342-3355. Pubmedid: 35653140. Pmcid: PMC9357161.
- Mendoza-Fandiño G, Lyra PCM, Nepomuceno TC, Harro CM, Woods NT, Li X, Rangel LB, Carvalho MA, Couch FJ, Monteiro ANA. Two distinct mechanisms underlie estrogen-receptor-negative breast cancer susceptibility at the 2p23.2 locus. Eur J Hum Genet. 2022 Apr.30(4):465-473. Pubmedid: 34803163. Pmcid: PMC8990004.
- Peres LC, Monteiro AN. Scratching Below the Ovarian Cancer GWAS Surface. Cancer Epidemiol Biomarkers Prev. 2021 Sep.30(9):1604-1606. Pubmedid: 34475121.
- Richardson ME, Hu C, Lee KY, LaDuca H, Fulk K, Durda KM, Deckman AM, Goldgar DE, Monteiro ANA, Gnanaolivu R, Hart SN, Polley EC, Chao E, Pesaran T, Couch FJ. Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance. Am J Hum Genet. 2021 Mar.108(3):458-468. Pubmedid: 33609447. Pmcid: PMC8008494.
- Nepomuceno TC, Carvalho MA, Rodrigue A, Simard J, Masson JY, Monteiro ANA. PALB2 Variants: Protein Domains and Cancer Susceptibility. Trends Cancer. 2021 Mar.7(3):188-197. Pubmedid: 33139182.
- Dash S, Yoder S, Mesa T, Smith A, Cen L, Eschrich S, Armaiz-Pena GN, Monteiro ANA. Effects of long-term norepinephrine treatment on normal immortalized ovarian and fallopian tube cells. Sci Rep. 2021 Jul.11(1):14334. Pubmedid: 34253763. Pmcid: PMC8275603.
- Lyra PCM, Nepomuceno TC, de Souza MLM, Machado GF, Veloso MF, Henriques TB, Dos Santos DZ, Ribeiro IG, Ribeiro RS, Rangel LBA, Richardson M, Iversen ES, Goldgar D, Couch FJ, Carvalho MA, Monteiro ANA. Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance. Genet Med. 2021 Feb.23(2):306-315. Pubmedid: 33087888. Pmcid: PMC7862071.
- Conley CC, Garcia JD, Radford C, Reich RR, Monteiro AN, Pal T, Vadaparampil ST. Acceptability and outcomes of multigene panel testing among young Black breast cancer survivors. Breast J. 2020 Oct.26(10):2112-2114. Pubmedid: 32319712. Pmcid: PMC7578013.
- Lamboy-Caraballo R, Ortiz-Sanchez C, Acevedo-Santiago A, Matta J, N A Monteiro A, N Armaiz-Pena G. Norepinephrine-Induced DNA Damage in Ovarian Cancer Cells. Int J Mol Sci. 2020 Mar.21(6). Pubmedid: 32213975. Pmcid: PMC7139728.
- Wiltshire T, Ducy M, Foo TK, Hu C, Lee KY, Belur Nagaraj A, Rodrigue A, Gomes TT, Simard J, Monteiro ANA, Xia B, Carvalho MA, Masson JY, Couch FJ. Functional characterization of 84 PALB2 variants of uncertain significance. Genet Med. 2020 Mar.22(3):622-632. Pubmedid: 31636395. Pmcid: PMC7056643.
- Golubeva VA, Nepomuceno TC, Gregoriis G, Mesquita RD, Li X, Dash S, Garcez PP, Suarez-Kurtz G, Izumi V, Koomen J, Carvalho MA, Monteiro ANA. Network of Interactions between ZIKA Virus Non-Structural Proteins and Human Host Proteins. Cells. 2020 Jan.9(1). Pubmedid: 31936331. Pmcid: PMC7016862.
- Monteiro AN, Bouwman P, Kousholt AN, Eccles DM, Millot GA, Masson JY, Schmidt MK, Sharan SK, Scully R, Wiesmüller L, Couch F, Vreeswijk MPG. Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation. J Med Genet. 2020 Aug.57(8):509-518. Pubmedid: 32152249. Pmcid: PMC7390672.
- Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Faust U, Felbor U, Feroce I, Fine M, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A, Lalloo F, Larsen M, Lattimore VL, Lautrup C, Ledig S, Leinert E, Lewis AL, Lim J, Loeffler M, López-Fernández A, Lucci-Cordisco E, Maass N, Manoukian S, Marabelli M, Matricardi L, Meindl A, Michelli RD, Moghadasi S, Moles-Fernández A, Montagna M, Montalban G, Monteiro AN, Montes E, Mori L, Moserle L, Müller CR, Mun ...
- Nielsen SM, Eccles DM, Romero IL, Al-Mulla F, Balmaña J, Biancolella M, Bslok R, Caligo MA, Calvello M, Capone GL, Cavalli P, Chan TLC, Claes KBM, Cortesi L, Couch FJ, de la Hoya M, De Toffol S, Diez O, Domchek SM, Eeles R, Efremidis A, Fostira F, Goldgar D, Hadjisavvas A, Hansen TVO, Hirasawa A, Houdayer C, Kleiblova P, Krieger S, Lázaro C, Loizidou M, Manoukian S, Mensenkamp AR, Moghadasi S, Monteiro AN, Mori L, Morrow A, Naldi N, Nielsen HR, Olopade OI, Pachter NS, Palmero EI, Pedersen IS, Piane M, Puzzo M, Robson M, Rossing M, Sini MC, Solano A, Soukupova J, Tedaldi G, Teixeira M, Thomassen M, Tibiletti MG, Toland A, Törngren T, Vaccari E, Varesco L, Vega A, Wallis Y, Wappenschmidt B, Weitzel J, Spurdle AB, De Nicolo A, Gómez-García EB. Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinica. JCO Precis Oncol. 2019 Sep.2. Pubmedid: 31517176. Pmcid: PMC6742430.
- Creed JH, Aden-Buie G, Monteiro AN, Gerke TA. epiTAD: a web application for visualizing chromosome conformation capture data in the context of genetic epidemiology. Bioinformatics. 2019 Nov.35(21):4462-4464. Pubmedid: 31099399. Pmcid: PMC7963078.
- Mota MBS, Carvalho MA, Monteiro ANA, Mesquita RD. DNA damage response and repair in perspective: Aedes aegypti, Drosophila melanogaster and Homo sapiens. Parasit Vectors. 2019 Nov.12(1):533. Pubmedid: 31711518. Pmcid: PMC6849265.
- Rodrigue A, Margaillan G, Torres Gomes T, Coulombe Y, Montalban G, da Costa E Silva Carvalho S, Milano L, Ducy M, De-Gregoriis G, Dellaire G, Araújo da Silva W, Monteiro AN, Carvalho MA, Simard J, Masson JY. A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor. Nucleic Acids Res. 2019 Nov.47(20):10662-10677. Pubmedid: 31586400. Pmcid: PMC6847799.
- Dutil J, Teer JK, Golubeva V, Yoder S, Tong WL, Arroyo N, Karam R, Echenique M, Matta JL, Monteiro AN. Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico. Sci Rep. 2019 Nov.9(1):17769. Pubmedid: 31780696. Pmcid: PMC6882826.
- Grant DJ, Manichaikul A, Alberg AJ, Bandera EV, Barnholtz-Sloan J, Bondy M, Cote ML, Funkhouser E, Moorman PG, Peres LC, Peters ES, Schwartz AG, Terry PD, Wang XQ, Keku TO, Hoyo C, Berchuck A, Sandler DP, Taylor JA, O'Brien KM, Velez Edwards DR, Edwards TL, Beeghly-Fadiel A, Wentzensen N, Pearce CL, Wu AH, Whittemore AS, McGuire V, Sieh W, Rothstein JH, Modugno F, Ness R, Moysich K, Rossing MA, Doherty JA, Sellers TA, Permuth-Way JB, Monteiro AN, Levine DA, Setiawan VW, Haiman CA, LeMarchand L, Wilkens LR, Karlan BY, Menon U, Ramus S, Gayther S, Gentry-Maharaj A, Terry KL, Cramer DW, Goode EL, Larson MC, Kaufmann SH, Cannioto R, Odunsi K, Etter JL, Huang RY, Bernardini MQ, Tone AA, May T, Goodman MT, Thompson PJ, Carney ME, Tworoger SS, Poole EM, Lambrechts D, Vergote I, Vanderstichele A, Van Nieuwenhuysen E, Anton-Culver H, Ziogas A, Brenton JD, Bjorge L, Salvensen HB, Kiemeney LA, Massuger LFAG, Pejovic T, Bruegl A, Moffitt M, Cook L, Le ND, Brooks-Wilson A, Kelemen LE, Pharoah PDP, Song H, Campbell I, Eccles D, DeFazio A, Kennedy CJ, Schildkraut JM. Evaluation of vitamin D biosynthesis and pathway target genes reveals UGT2A1/2 and EGFR polymorphisms associated with epithelial ovarian cancer in African American Women. Cancer Med. 2019 May.8(5):2503-2513. Pubmedid: 31001917. Pmcid: PMC6536963.
- Gusev A, Lawrenson K, Lin X, Lyra PC, Kar S, Vavra KC, Segato F, Fonseca MAS, Lee JM, Pejovic T, Liu G, Karlan BY, Freedman ML, Noushmehr H, Monteiro AN, Pharoah PDP, Pasaniuc B, Gayther SA. A transcriptome-wide association study of high-grade serous epithelial ovarian cancer identifies new susceptibility genes and splice variants. Nat Genetics. 2019 May.51(5):815-823. Pubmedid: 31043753. Pmcid: PMC6548545.
- Hu WF, Krieger KL, Lagundžin D, Li X, Cheung RS, Taniguchi T, Johnson KR, Bessho T, Monteiro ANA, Woods NT. CTDP1 regulates breast cancer survival and DNA repair through BRCT-specific interactions with FANCI. Cell Death Discov. 2019 Jun.5:105. Pubmedid: 31240132. Pmcid: PMC6584691.
- Spurdle AB, Greville-Heygate S, Antoniou AC, Brown M, Burke L, de la Hoya M, Domchek S, Dörk T, Firth HV, Monteiro AN, Mensenkamp A, Parsons MT, Radice P, Robson M, Tischkowitz M, Tudini E, Turnbull C, Vreeswijk MP, Walker LC, Tavtigian S, Eccles DM. Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report. J Med Genet. 2019 Jun.56(6):347-357. Pubmedid: 30962250.
- Reid BM, Permuth JB, Chen YA, Fridley BL, Iversen ES, Chen Z, Jim H, Vierkant RA, Cunningham JM, Barnholtz-Sloan JS, Narod S, Risch H, Schildkraut JM, Goode EL, Monteiro AN, Sellers TA. Genome-wide Analysis of Common Copy Number Variation and Epithelial Ovarian Cancer Risk. Cancer Epidemiol Biomarkers Prev. 2019 Jul.28(7):1117-1126. Pubmedid: 30948450. Pmcid: PMC6606353.
- Hart SN, Hoskin T, Shimelis H, Moore RM, Feng B, Thomas A, Lindor NM, Polley EC, Goldgar DE, Iversen E, Monteiro ANA, Suman VJ, Couch FJ. Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models. Genet Med. 2019 Jan.21(1):71-80. Pubmedid: 29884841. Pmcid: PMC6287763.
- Buckley MA, Woods NT, Tyrer JP, Mendoza-Fandiño G, Lawrenson K, Hazelett DJ, Najafabadi HS, Gjyshi A, Carvalho RS, Lyra PC, Coetzee SG, Shen HC, Yang AW, Earp MA, Yoder S, Risch H, Chenevix-Trench G, Ramus SJ, Phelan CM, Coetzee GA, Noushmehr H, Hughes TR, Sellers TA, Goode EL, Pharoah PDP, Gayther SA, Monteiro AN. Functional Analysis and Fine Mapping of the 9p22.2 Ovarian Cancer Susceptibility Locus. Cancer Res. 2019 Feb.79(3):467-481. Pubmedid: 30487138. Pmcid: PMC6359979.
- Yang Y, Wu L, Shu X, Lu Y, Shu XO, Cai Q, Beeghly-Fadiel A, Li B, Ye F, Berchuck A, Anton-Culver H, Banerjee S, Benitez J, Bjørge L, Brenton JD, Butzow R, Campbell IG, Chang-Claude J, Chen K, Cook LS, Cramer DW, deFazio A, Dennis J, Doherty JA, Dörk T, Eccles DM, Edwards DV, Fasching PA, Fortner RT, Gayther SA, Giles GG, Glasspool RM, Goode EL, Goodman MT, Gronwald J, Harris HR, Heitz F, Hildebrandt MA, Høgdall E, Høgdall CK, Huntsman DG, Kar SP, Karlan BY, Kelemen LE, Kiemeney LA, Kjaer SK, Koushik A, Lambrechts D, Le ND, Levine DA, Massuger LF, Matsuo K, May T, McNeish IA, Menon U, Modugno F, Monteiro AN, Moorman PG, Moysich KB, Ness RB, Nevanlinna H, Olsson H, Onland-Moret NC, Park SK, Paul J, Pearce CL, Pejovic T, Phelan CM, Pike MC, Ramus SJ, Riboli E, Rodriguez-Antona C, Romieu I, Sandler DP, Schildkraut JM, Setiawan VW, Shan K, Siddiqui N, Sieh W, Stampfer MJ, Sutphen R, Swerdlow AJ, Szafron LM, Teo SH, Tworoger SS, Tyrer JP, Webb PM, Wentzensen N, White E, Willett WC, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Chenevix-Trench G, Sellers TA, Pharoah PDP, Zheng W, Long J. Genetic Data from Nearly 63,000 Women of European Descent Predicts DNA Methylation Biomarkers and Epithelial Ovarian Cancer Risk. Cancer Res. 2019 Feb.79(3):505-517. Pubmedid: 30559148. Pmcid: PMC6359948.
- Dutil J, Chen Z, Monteiro AN, Teer JK, Eschrich SA. An Interactive Resource to Probe Genetic Diversity and Estimated Ancestry in Cancer Cell Lines. Cancer Res. 2019 Apr.79(7):1263-1273. Pubmedid: 30894373. Pmcid: PMC6445675.
- Fernandes VC, Golubeva VA, Di Pietro G, Shields C, Amankwah K, Nepomuceno TC, de Gregoriis G, Abreu RBV, Harro C, Gomes TT, Silva RF, Suarez-Kurtz G, Couch FJ, Iversen ES, Monteiro ANA, Carvalho MA. Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation. J Biol Chem. 2019 Apr.294(15):5980-5992. Pubmedid: 30765603. Pmcid: PMC6463708.
- Golubeva VA, Nepomuceno TC, Monteiro ANA. Germline Missense Variants in BRCA1: New Trends and Challenges for Clinical Annotation. Cancers (Basel). 2019 Apr.11(4). Pubmedid: 31013702. Pmcid: PMC6520942.
- Gjyshi A, Dash S, Cen L, Cheng CH, Zhang C, Yoder SJ, Teer JK, Armaiz-Pena GN, Monteiro ANA. Early transcriptional response of human ovarian and fallopian tube surface epithelial cells to norepinephrine. Sci Rep. 2018 May.8(1):8291. Pubmedid: 29844388. Pmcid: PMC5974302.
- Earp M, Tyrer JP, Winham SJ, Lin HY, Chornokur G, Dennis J, Aben KKH, Anton-Culver H, Antonenkova N, Bandera EV, Bean YT, Beckmann MW, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bruinsma F, Bunker CH, Butzow R, Campbell IG, Carty K, Chang-Claude J, Cook LS, Cramer DW, Cunningham JM, Cybulski C, Dansonka-Mieszkowska A, Despierre E, Doherty JA, Dörk T, du Bois A, Dürst M, Easton DF, Eccles DM, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gentry-Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harter P, Hein A, Heitz F, Hildebrandt MAT, Hillemanns P, Hogdall CK, Høgdall E, Hosono S, Iversen ES, Jakubowska A, Jensen A, Ji BT, Jung AY, Karlan BY, Kellar M, Kiemeney LA, Kiong Lim B, Kjaer SK, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lele S, Lester J, Levine DA, Li Z, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger LFAG, Matsuo K, McGuire V, McLaughlin JR, McNeish I, Menon U, Milne RL, Modugno F, Moysich KB, Ness RB, Nevanlinna H, Odunsi K, Olson SH, Orlow I, Orsulic S, Paul J, Pejovic T, Pelttari LM, Permuth JB, Pike MC, Poole EM, Rosen B, Rossing MA, Rothstein JH, Runnebaum IB, Rzepecka IK, Schernhammer E, Schwaab I, Shu XO, Shvetsov YB, Siddiqui N, Sieh W, Song H, Southey MC, Spiewankiewicz B, Sucheston-Campbell L, Tangen IL, Teo SH, Terry KL, Thompson PJ, Thomsen L, Tworoger SS, van Altena AM, Vergote I, Vestrheim Thomsen LC, Vierkant RA, Walsh CS, Wang-Gohrke S, Wentzensen N, Whittemore AS, Wicklund KG, Wilkens LR, Woo ...
- Toland AE, Forman A, Couch FJ, Culver JO, Eccles DM, Foulkes WD, Hogervorst FBL, Houdayer C, Levy-Lahad E, Monteiro AN, Neuhausen SL, Plon SE, Sharan SK, Spurdle AB, Szabo C, Brody LC. Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices. NPJ Genom Med. 2018 Feb.3:7. Pubmedid: 29479477. Pmcid: PMC5814433.
- Dutil J, Godoy L, Rivera-Lugo R, Arroyo N, Albino E, Negrón L, Monteiro AN, Matta JL, Echenique M. No Evidence for the Pathogenicity of the BRCA2 c.6937 + 594T>G Deep Intronic Variant: A Case-Control Analysis. Genet Test Mol Biomarkers. 2018 Feb.22(2):85-89. Pubmedid: 29356578. Pmcid: PMC5806076.
- Guidugli L, Shimelis H, Masica DL, Pankratz VS, Lipton GB, Singh N, Hu C, Monteiro ANA, Lindor NM, Goldgar DE, Karchin R, Iversen ES, Couch FJ. Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches. Am J Hum Genet. 2018 Feb.102(2):233-248. Pubmedid: 29394989. Pmcid: PMC5985401.
- Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, Winham SJ, Dennis J, Pirie A, Riggan MJ, Chornokur G, Earp MA, Lyra PC, Lee JM, Coetzee S, Beesley J, McGuffog L, Soucy P, Dicks E, Lee A, Barrowdale D, Lecarpentier J, Leslie G, Aalfs CM, Aben KK, Adams M, Adlard J, Andrulis IL, Anton-Culver H, Antonenkova N, Aravantinos G, Arnold N, Arun BK, Arver B, Azzollini J, Balmaña J, Banerjee SN, Barjhoux L, Barkardottir RB, Bean Y, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Birrer MJ, Bjorge L, Black A, Blankstein K, Blok MJ, Bodelon C, Bogdanova N, Bojesen A, Bonanni B, Borg Å, Bradbury AR, Brenton JD, Brewer C, Brinton L, Broberg P, Brooks-Wilson A, Bruinsma F, Brunet J, Buecher B, Butzow R, Buys SS, Caldes T, Caligo MA, Campbell I, Cannioto R, Carney ME, Cescon T, Chan SB, Chang-Claude J, Chanock S, Chen XQ, Chiew YE, Chiquette J, Chung WK, Claes KB, Conner T, Cook LS, Cook J, Cramer DW, Cunningham JM, D'Aloisio AA, Daly MB, Damiola F, Damirovna SD, Dansonka-Mieszkowska A, Dao F, Davidson R, DeFazio A, Delnatte C, Doheny KF, Diez O, Ding YC, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dossus L, Duran M, Dürst M, Dworniczak B, Eccles D, Edwards T, Eeles R, Eilber U, Ejlertsen B, Ekici AB, Ellis S, Elvira M, Eng KH, Engel C, Evans DG, Fasching PA, Ferguson S, Ferrer SF, Flanagan JM, Fogarty ZC, Fortner RT, Fostira F, Foulkes WD, Fountzilas G, Fridley BL, Friebel TM, Friedman E, Frost D, Ganz PA, Garber J, García MJ, Garcia-Barberan V, Gehr ...
- De Gregoriis G, Ramos JA, Fernandes PV, Vignal GM, Brianese RC, Carraro DM, Monteiro AN, Struchiner C, Suarez-Kurtz G, Vianna-Jorge R, de Carvalho MA. DNA repair genes PAXIP1 and TP53BP1 expression is associated with breast cancer prognosis. Cancer Biol Ther. 2017 Jun.18(6):439-449. Pubmedid: 28475402. Pmcid: PMC5536937.
- Shimelis H, Mesman RL, Von Nicolai C, Ehlen A, Guidugli L, Martin C, Calleja FM, Meeks H, Hallberg E, Hinton J, Lilyquist J, Hu C, Aalfs CM, Aittomaki K, Andrulis IL, Anton-Culver H, Arndt V, Beckmann MW, Benitez JJ, Bogdanova N, Bojesen SE, Bolla MK, Borresen-Dale AL, Brauch H, Brennan P, Brenner H, Broeks A, Brouwers B, Bruning T, Burwinkel B, Chang-Claude J, Chenevix-Trench G, Cheng CY, Choi JY, Collée JM, Cox A, Cross SS, Czene K, Darabi H, Dennis J, Dork T, Dos Santos Silva I, Dunning AM, Fasching PA, Figueroa JD, Flyger H, Garcia-Closas M, Giles GG, Glendon G, Guenel P, Haiman CA, Hall P, Hamann U, Hartman M, Hogervorst FB, Hollestelle A, Hopper JL, Ito H, Jakubowska A, Kang D, Kosma VM, Kristensen V, Lai KN, Lambrechts D, Le Marchand L, Li J, Lindblom A, Lophatananon A, Lubinski J, Machackova E, Mannermaa A, Margolin S, Marme F, Matsuo K, Miao H, Michailidou K, Milne RL, Muir K, Neuhausen SL, Nevanlinna H, Olson JE, Olswold C, Oosterwijk JC, Osorio A, Peterlongo P, Peto J, Pharoah PD, Pylkäs K, Radice P, Rashid MU, Rhenius V, Rudolph A, Sangrajrang S, Sawyer EJ, Schmidt MK, Schoemaker MJ, Seynaeve CM, Shah M, Shen CY, Shrubsole MJ, Shu XO, Slager SL, Southey MC, Stram DO, Swerdlow AJ, Teo SH, Tomlinson I, Torres D, Truong T, van Asperen CJ, van der Kolk LE, Wang Q, Winqvist R, Wu AH, Yu JC, Zheng W, Zheng Y, Leary J, Walker LC, Foretova L, Fostira F, Claes K, Varesco L, Moghadasi S, Easton DF, Spurdle AB, Devilee P, Vrieling H, Monteiro AN, Goldgar DE, Carreira A, ...
- Wright G, Golubeva V, Remsing Rix LL, Berndt N, Luo Y, Ward GA, Gray JE, Schönbrunn E, Lawrence HR, Monteiro ANA, Rix U. Dual Targeting of WEE1 and PLK1 by AZD1775 Elicits Single Agent Cellular Anticancer Activity. Acs Chem Biol. 2017 Jul.12(7):1883-1892. Pubmedid: 28557434. Pmcid: PMC5551971.
- Reid BM, Permuth JB, Chen YA, Teer JK, Monteiro AN, Chen Z, Tyrer J, Berchuck A, Chenevix-Trench G, Doherty JA, Goode EL, Iverson ES, Lawrenson K, Pearce CL, Pharoah PD, Phelan CM, Ramus SJ, Rossing MA, Schildkraut JM, Cheng JQ, Gayther SA, Sellers TA. Integration of Population-Level Genotype Data with Functional Annotation Reveals Over-Representation of Long Noncoding RNAs at Ovarian Cancer Susceptibility Loci. Cancer Epidemiol Biomarkers Prev. 2017 Jan.26(1):116-125. Pubmedid: 28035019. Pmcid: PMC5312656.
- Golubeva V, Monteiro AN. What can yeast tell us about breast cancer?. Cell Cycle. 2017 Jan.16(2):157-158. Pubmedid: 28005465. Pmcid: PMC5283815.
- Harro CM, Monteiro AN. Dissecting genetic risk factors in breast cancer. Oncotarget. 2017 Feb.8(8):12540-12541. Pubmedid: 28177912. Pmcid: PMC5355027.
- Kar SP, Adler E, Tyrer J, Hazelett D, Anton-Culver H, Bandera EV, Beckmann MW, Berchuck A, Bogdanova N, Brinton L, Butzow R, Campbell I, Carty K, Chang-Claude J, Cook LS, Cramer DW, Cunningham JM, Dansonka-Mieszkowska A, Doherty JA, Dörk T, Dürst M, Eccles D, Fasching PA, Flanagan J, Gentry-Maharaj A, Glasspool R, Goode EL, Goodman MT, Gronwald J, Heitz F, Hildebrandt MA, Høgdall E, Høgdall CK, Huntsman DG, Jensen A, Karlan BY, Kelemen LE, Kiemeney LA, Kjaer SK, Kupryjanczyk J, Lambrechts D, Levine DA, Li Q, Lissowska J, Lu KH, Lubiński J, Massuger LF, McGuire V, McNeish I, Menon U, Modugno F, Monteiro AN, Moysich KB, Ness RB, Nevanlinna H, Paul J, Pearce CL, Pejovic T, Permuth JB, Phelan C, Pike MC, Poole EM, Ramus SJ, Risch HA, Rossing MA, Salvesen HB, Schildkraut JM, Sellers TA, Sherman M, Siddiqui N, Sieh W, Song H, Southey M, Terry KL, Tworoger SS, Walsh C, Wentzensen N, Whittemore AS, Wu AH, Yang H, Zheng W, Ziogas A, Freedman ML, Gayther SA, Pharoah PD, Lawrenson K. Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci. Brit J Cancer. 2017 Feb.116(4):524-535. Pubmedid: 28103614. Pmcid: PMC5318969.
- Woods NT, Baskin R, Golubeva V, Jhuraney A, De-Gregoriis G, Vaclova T, Goldgar DE, Couch FJ, Carvalho MA, Iversen ES, Monteiro AN. Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance. NPJ Genom Med. 2017 Aug.1. Pubmedid: 28781887. Pmcid: PMC5539989.
- Teer JK, Yoder S, Gjyshi A, Nicosia SV, Zhang C, Monteiro ANA. Mutational heterogeneity in non-serous ovarian cancers. Sci Rep. 2017 Aug.7(1):9728. Pubmedid: 28852190. Pmcid: PMC5574976.
- Nepomuceno TC, De Gregoriis G, de Oliveira FMB, Suarez-Kurtz G, Monteiro AN, Carvalho MA. The Role of PALB2 in the DNA Damage Response and Cancer Predisposition. Int J Mol Sci. 2017 Aug.18(9). Pubmedid: 28858227. Pmcid: PMC5618535.
- Nepomuceno TC, Fernandes VC, Gomes TT, Carvalho RS, Suarez-Kurtz G, Monteiro AN, Carvalho MA. BRCA1 recruitment to damaged DNA sites is dependent on CDK9. Cell Cycle. 2017 Apr.16(7):665-672. Pubmedid: 28278048. Pmcid: PMC5397266.
- Kar SP, Beesley J, Amin Al Olama A, Michailidou K, Tyrer J, Kote-Jarai Z, Lawrenson K, Lindstrom S, Ramus SJ, Thompson DJ, Kibel AS, Dansonka-Mieszkowska A, Michael A, Dieffenbach AK, Gentry-Maharaj A, Whittemore AS, Wolk A, Monteiro A, Peixoto A, Kierzek A, Cox A, Rudolph A, Gonzalez-Neira A, Wu AH, Lindblom A, Swerdlow A, Ziogas A, Ekici AB, Burwinkel B, Karlan BY, Nordestgaard BG, Blomqvist C, Phelan C, McLean C, Pearce CL, Vachon C, Cybulski C, Slavov C, Stegmaier C, Maier C, Ambrosone CB, Høgdall CK, Teerlink CC, Kang D, Tessier DC, Schaid DJ, Stram DO, Cramer DW, Neal DE, Eccles D, Flesch-Janys D, Edwards DR, Wokozorczyk D, Levine DA, Yannoukakos D, Sawyer EJ, Bandera EV, Poole EM, Goode EL, Khusnutdinova E, Høgdall E, Song F, Bruinsma F, Heitz F, Modugno F, Hamdy FC, Wiklund F, Giles GG, Olsson H, Wildiers H, Ulmer HU, Pandha H, Risch HA, Darabi H, Salvesen HB, Nevanlinna H, Gronberg H, Brenner H, Brauch H, Anton-Culver H, Song H, Lim HY, McNeish I, Campbell I, Vergote I, Gronwald J, Lubiński J, Stanford JL, Benítez J, Doherty JA, Permuth JB, Chang-Claude J, Donovan JL, Dennis J, Schildkraut JM, Schleutker J, Hopper JL, Kupryjanczyk J, Park JY, Figueroa J, Clements JA, Knight JA, Peto J, Cunningham JM, Pow-Sang J, Batra J, Czene K, Lu KH, Herkommer K, Khaw KT, Matsuo K, Muir K, Offitt K, Chen K, Moysich KB, Aittomäki K, Odunsi K, Kiemeney LA, Massuger LF, Fitzgerald LM, Cook LS, Cannon-Albright L, Hooning MJ, Pike MC, Bolla MK, Luedeke M, Teixeira MR, Goodman MT, ...
- Lawrenson K, Kar S, McCue K, Kuchenbaeker K, Michailidou K, Tyrer J, Beesley J, Ramus SJ, Li Q, Delgado MK, Lee JM, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Bandera EV, Barile M, Barkardottir RB, Barrowdale D, Beckmann MW, Benitez J, Berchuck A, Bisogna M, Bjorge L, Blomqvist C, Blot W, Bogdanova N, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Børresen-Dale AL, Brauch H, Brennan P, Brenner H, Bruinsma F, Brunet J, Buhari SA, Burwinkel B, Butzow R, Buys SS, Cai Q, Caldes T, Campbell I, Canniotto R, Chang-Claude J, Chiquette J, Choi JY, Claes KB, Cook LS, Cox A, Cramer DW, Cross SS, Cybulski C, Czene K, Daly MB, Damiola F, Dansonka-Mieszkowska A, Darabi H, Dennis J, Devilee P, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dumont M, Ehrencrona H, Ejlertsen B, Ellis S, Engel C, Lee E, Evans DG, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Foretova L, Fostira F, Foulkes WD, Fridley BL, Friedman E, Frost D, Gambino G, Ganz PA, Garber J, García-Closas M, Gentry-Maharaj A, Ghoussaini M, Giles GG, Glasspool R, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Goode EL, Goodman MT, Greene MH, Gronwald J, Guénel P, Haiman CA, Hall P, Hallberg E, Hamann U, Hansen TV, Harrington PA, Hartman M, Hassan N, Healey S, Heitz F, Herzog J, Høgdall E, Høgdall CK, Hogervorst FB, Hollestelle A, Hopper JL, Hulick PJ, Huzarski T, Imyanitov EN, Isaacs C, Ito H, Jakubowska A, Janavicius R, Jensen A, John EM, Johnson N, Kabisch M ...
- Permuth JB, Reid B, Earp M, Chen YA, Monteiro AN, Chen Z, Aocs Study Group, Chenevix-Trench G, Fasching PA, Beckmann MW, Lambrechts D, Vanderstichele A, Van Niewenhuyse E, Vergote I, Rossing MA, Doherty JA, Chang-Claude J, Moysich K, Odunsi K, Goodman MT, Shvetsov YB, Wilkens LR, Thompson PJ, Dörk T, Bogdanova N, Butzow R, Nevanlinna H, Pelttari L, Leminen A, Modugno F, Edwards RP, Ness RB, Kelley J, Heitz F, Karlan B, Lester J, Kjaer SK, Jensen A, Giles G, Hildebrandt M, Liang D, Lu KH, Wu X, Levine DA, Bisogna M, Berchuck A, Cramer DW, Terry KL, Tworoger SS, Poole EM, Bandera EV, Fridley B, Cunningham J, Winham SJ, Olson SH, Orlow I, Bjorge L, Kiemeney LA, Massuger L, Pejovic T, Moffitt M, Le N, Cook LS, Brooks-Wilson A, Kelemen LE, Gronwald J, Lubinski J, Wentzensen N, Brinton LA, Lissowska J, Yang H, Hogdall E, Hogdall C, Lundvall L, Pharoah PD, Song H, Campbell I, Eccles D, McNeish I, Whittemore A, McGuire V, Sieh W, Rothstein J, Phelan CM, Risch H, Narod S, McLaughlin J, Anton-Culver H, Ziogas A, Menon U, Gayther S, Ramus SJ, Gentry-Maharaj A, Pearce CL, Wu AH, Kupryjanczyk J, Dansonka-Mieszkowska A, Schildkraut JM, Cheng JQ, Goode EL, Sellers TA. Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration. Oncotarget. 2016 Nov.7(45):72381-72394. Pubmedid: 27911851. Pmcid: PMC5340123.
- Schell MJ, Yang M, Teer JK, Lo FY, Madan A, Coppola D, Monteiro AN, Nebozhyn MV, Yue B, Loboda A, Bien-Willner GA, Greenawalt DM, Yeatman TJ. A multigene mutation classification of 468 colorectal cancers reveals a prognostic role for APC. Nat Commun. 2016 Jun.7:11743. Pubmedid: 27302369. Pmcid: PMC4912618.
- Jhuraney A, Woods NT, Wright G, Rix L, Kinose F, Kroeger JL, Remily-Wood E, Cress WD, Koomen JM, Brantley SG, Gray JE, Haura EB, Rix U, Monteiro AN. PAXIP1 Potentiates the Combination of WEE1 Inhibitor AZD1775 and Platinum Agents in Lung Cancer. Mol Cancer Ther. 2016 Jul.15(7):1669-1681. Pubmedid: 27196765. Pmcid: PMC4936941.
- Jim HS, Lin HY, Tyrer JP, Lawrenson K, Dennis J, Chornokur G, Chen Z, Chen AY, Permuth-Wey J, Aben KK, Anton-Culver H, Antonenkova N, Bruinsma F, Bandera EV, Bean YT, Beckmann MW, Bisogna M, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bunker CH, Butzow R, Campbell IG, Carty K, Chang-Claude J, Cook LS, Cramer DW, Cunningham JM, Cybulski C, Dansonka-Mieszkowska A, du Bois A, Despierre E, Sieh W, Doherty JA, Dörk T, Dürst M, Easton DF, Eccles DM, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gao YT, Gentry-Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harter P, Hasmad HN, Hein A, Heitz F, Hildebrandt MA, Hillemanns P, Hogdall CK, Hogdall E, Hosono S, Iversen ES, Jakubowska A, Jensen A, Ji BT, Karlan BY, Kellar M, Kiemeney LA, Krakstad C, Kjaer SK, Kupryjanczyk J, Vierkant RA, Lambrechts D, Lambrechts S, Le ND, Lee AW, Lele S, Leminen A, Lester J, Levine DA, Liang D, Lim BK, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, McNeish I, Menon U, Milne RL, Modugno F, Thomsen L, Moysich KB, Ness RB, Nevanlinna H, Eilber U, Odunsi K, Olson SH, Orlow I, Orsulic S, Palmieri Weber R, Paul J, Pearce CL, Pejovic T, Pelttari LM, Pike MC, Poole EM, Schernhammer E, Risch HA, Rosen B, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Rzepecka IK, Salvesen HB, Schwaab I, Shu XO, Shvetsov YB, Siddiqui N, Song H, Southey MC, Spiewankiewicz B, Sucheston-Campbell L, Teo SH, Terry KL, Thompson PJ, Tangen IL, Tworoger SS, van Altena ...
- Buckley M, Gjyshi A, Mendoza-Fandiño G, Baskin R, Carvalho RS, Carvalho MA, Woods NT, Monteiro AN. Enhancer scanning to locate regulatory regions in genomic loci. Nat Protoc. 2016 Jan.11(1):46-60. Pubmedid: 26658467. Pmcid: PMC4756653.
- Meeks HD, Song H, Michailidou K, Bolla MK, Dennis J, Wang Q, Barrowdale D, Frost D, McGuffog L, Ellis S, Feng B, Buys SS, Hopper JL, Southey MC, Tesoriero A, James PA, Bruinsma F, Campbell IG, Broeks A, Schmidt MK, Hogervorst FB, Beckman MW, Fasching PA, Fletcher O, Johnson N, Sawyer EJ, Riboli E, Banerjee S, Menon U, Tomlinson I, Burwinkel B, Hamann U, Marme F, Rudolph A, Janavicius R, Tihomirova L, Tung N, Garber J, Cramer D, Terry KL, Poole EM, Tworoger SS, Dorfling CM, van Rensburg EJ, Godwin AK, Guénel P, Truong T, Stoppa-Lyonnet D, Damiola F, Mazoyer S, Sinilnikova OM, Isaacs C, Maugard C, Bojesen SE, Flyger H, Gerdes AM, Hansen TV, Jensen A, Kjaer SK, Hogdall C, Hogdall E, Pedersen IS, Thomassen M, Benitez J, González-Neira A, Osorio A, Hoya Mde L, Segura PP, Diez O, Lazaro C, Brunet J, Anton-Culver H, Eunjung L, John EM, Neuhausen SL, Ding YC, Castillo D, Weitzel JN, Ganz PA, Nussbaum RL, Chan SB, Karlan BY, Lester J, Wu A, Gayther S, Ramus SJ, Sieh W, Whittermore AS, Monteiro AN, Phelan CM, Terry MB, Piedmonte M, Offit K, Robson M, Levine D, Moysich KB, Cannioto R, Olson SH, Daly MB, Nathanson KL, Domchek SM, Lu KH, Liang D, Hildebrant MA, Ness R, Modugno F, Pearce L, Goodman MT, Thompson PJ, Brenner H, Butterbach K, Meindl A, Hahnen E, Wappenschmidt B, Brauch H, Brüning T, Blomqvist C, Khan S, Nevanlinna H, Pelttari LM, Aittomäki K, Butzow R, Bogdanova NV, Dörk T, Lindblom A, Margolin S, Rantala J, Kosma VM, Mannermaa A, Lambrechts D, Neven P, Claes KB, Maerken ...
- Earp M, Winham SJ, Larson N, Permuth JB, Sicotte H, Chien J, Anton-Culver H, Bandera EV, Berchuck A, Cook LS, Cramer D, Doherty JA, Goodman MT, Levine DA, Monteiro AN, Ness RB, Pearce CL, Rossing MA, Tworoger SS, Wentzensen N, Bisogna M, Brinton L, Brooks-Wilson A, Carney ME, Cunningham JM, Edwards RP, Fogarty ZC, Iversen ES, Kraft P, Larson MC, Le ND, Lin HY, Lissowska J, Modugno F, Moysich KB, Olson SH, Pike MC, Poole EM, Rider DN, Terry KL, Thompson PJ, van den Berg D, Vierkant RA, Vitonis AF, Wilkens LR, Wu AH, Yang HP, Ziogas A, Phelan CM, Schildkraut JM, Chen YA, Sellers TA, Fridley BL, Goode EL. A targeted genetic association study of epithelial ovarian cancer susceptibility. Oncotarget. 2016 Feb.7(7):7381-7389. Pubmedid: 26848776. Pmcid: PMC4884925.
- Knezevic CE, Wright G, Remsing Rix LL, Kim W, Kuenzi BM, Luo Y, Watters JM, Koomen JM, Haura EB, Monteiro AN, Radu C, Lawrence HR, Rix U. Proteome-wide Profiling of Clinical PARP Inhibitors Reveals Compound-Specific Secondary Targets. Cell Chem Biol. 2016 Dec.23(12):1490-1503. Pubmedid: 27866910. Pmcid: PMC5182133.
- Southey MC, Goldgar DE, Winqvist R, Pylkäs K, Couch F, Tischkowitz M, Foulkes WD, Dennis J, Michailidou K, van Rensburg EJ, Heikkinen T, Nevanlinna H, Hopper JL, Dörk T, Claes KB, Reis-Filho J, Teo ZL, Radice P, Catucci I, Peterlongo P, Tsimiklis H, Odefrey FA, Dowty JG, Schmidt MK, Broeks A, Hogervorst FB, Verhoef S, Carpenter J, Clarke C, Scott RJ, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Peto J, Dos-Santos-Silva I, Fletcher O, Johnson N, Bolla MK, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Marme F, Burwinkel B, Yang R, Guénel P, Truong T, Menegaux F, Sanchez M, Bojesen S, Nielsen SF, Flyger H, Benitez J, Zamora MP, Perez JI, Menéndez P, Anton-Culver H, Neuhausen S, Ziogas A, Clarke CA, Brenner H, Arndt V, Stegmaier C, Brauch H, Brüning T, Ko YD, Muranen TA, Aittomäki K, Blomqvist C, Bogdanova NV, Antonenkova NN, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Spurdle AB, Investigators K, Wauters E, Smeets D, Beuselinck B, Floris G, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Olson JE, Vachon C, Pankratz VS, McLean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Kristensen V, Alnæs GG, Zheng W, Hunter DJ, Lindstrom S, Hankinson SE, Kraft P, Andrulis I, Knight JA, Glendon G, Mulligan AM, Jukkola-Vuorinen A, Grip M, Kauppila S, Devilee P, Tollenaar RA, Seynaeve C, Hollestelle A, Garcia-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Darabi H, Eriksson M, Eccles DM, Rafiq S, Tapper WJ, Gerty SM, Hooning MJ, Marte ...
- Vaclová T, Woods NT, Megías D, Gomez-Lopez S, Setién F, García Bueno JM, Macías JA, Barroso A, Urioste M, Esteller M, Monteiro AN, Benítez J, Osorio A. Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor olaparib by a dominant negative effect. Hum Mol Genet. 2016 Dec.25(24):5287-5299. Pubmedid: 27742776. Pmcid: PMC5815624.
- Permuth JB, Pirie A, Ann Chen Y, Lin HY, Reid BM, Chen Z, Monteiro A, Dennis J, Mendoza-Fandino G, Anton-Culver H, Bandera EV, Bisogna M, Brinton L, Brooks-Wilson A, Carney ME, Chenevix-Trench G, Cook LS, Cramer DW, Cunningham JM, Cybulski C, D'Aloisio AA, Anne Doherty J, Earp M, Edwards RP, Fridley BL, Gayther SA, Gentry-Maharaj A, Goodman MT, Gronwald J, Hogdall E, Iversen ES, Jakubowska A, Jensen A, Karlan BY, Kelemen LE, Kjaer SK, Kraft P, Le ND, Levine DA, Lissowska J, Lubinski J, Matsuo K, Menon U, Modugno R, Moysich KB, Nakanishi T, Ness RB, Olson S, Orlow I, Pearce CL, Pejovic T, Poole EM, Ramus SJ, Anne Rossing M, Sandler DP, Shu XO, Song H, Taylor JA, Teo SH, Terry KL, Thompson PJ, Tworoger SS, Webb PM, Wentzensen N, Wilkens LR, Winham S, Woo YL, Wu AH, Yang H, Zheng W, Ziogas A, Phelan CM, Schildkraut JM, Berchuck A, Goode EL, Pharoah PD, Sellers TA. Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk. Hum Mol Genet. 2016 Aug.25(16):3600-3612. Pubmedid: 27378695. Pmcid: PMC5179948.
- Couch FJ, Kuchenbaecker KB, Michailidou K, Mendoza-Fandino GA, Nord S, Lilyquist J, Olswold C, Hallberg E, Agata S, Ahsan H, Aittomäki K, Ambrosone C, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Barile M, Barkardottir RB, Barrowdale D, Beckmann L, Beckmann MW, Benitez J, Blank SV, Blomqvist C, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldes T, Caligo MA, Canzian F, Carpenter J, Chang-Claude J, Chanock SJ, Chung WK, Claes KB, Cox A, Cross SS, Cunningham JM, Czene K, Daly MB, Damiola F, Darabi H, de la Hoya M, Devilee P, Diez O, Ding YC, Dolcetti R, Domchek SM, Dorfling CM, Dos-Santos-Silva I, Dumont M, Dunning AM, Eccles DM, Ehrencrona H, Ekici AB, Eliassen H, Ellis S, Fasching PA, Figueroa J, Flesch-Janys D, Försti A, Fostira F, Foulkes WD, Friebel T, Friedman E, Frost D, Gabrielson M, Gammon MD, Ganz PA, Gapstur SM, Garber J, Gaudet MM, Gayther SA, Gerdes AM, Ghoussaini M, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Gunter M, Haeberle L, Haiman CA, Hamann U, Hansen TV, Hart S, Healey S, Heikkinen T, Henderson BE, Herzog J, Hogervorst FB, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Humphreys K, Hunter DJ, Huzarski T, Imyanitov EN, Isaacs C, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Jones M, Kabisch M, Kar S, Karlan BY, Khan S, Khaw KT, Kibriya MG, Knight JA, Ko YD, Konstantopoulou I, Kosma VM, Kristensen V, Kwong A, Laitman Y, L ...
- Spurdle AB, Domchek S, Robson M, Buys S, Radice P, de la Hoya M, Devilee P, Monteiro AN, Southey M, Eccles D, Couch FJ, Goldgar DE. Response. J Natl Cancer Inst. 2016 12.108(12). Pubmedid: 27582381.
- Lawrenson K, Li Q, Kar S, Seo JH, Tyrer J, Spindler TJ, Lee J, Chen Y, Karst A, Drapkin R, Aben KK, Anton-Culver H, Antonenkova N, Baker H, Bandera EV, Bean Y, Beckmann MW, Berchuck A, Bisogna M, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bruinsma F, Butzow R, Campbell IG, Carty K, Chang-Claude J, Chenevix-Trench G, Chen A, Chen Z, Cook LS, Cramer DW, Cunningham JM, Cybulski C, Dansonka-Mieszkowska A, Dennis J, Dicks E, Doherty JA, Dörk T, du Bois A, Dürst M, Eccles D, Easton DT, Edwards RP, Eilber U, Ekici AB, Fasching PA, Fridley BL, Gao YT, Gentry-Maharaj A, Giles GG, Glasspool R, Goode EL, Goodman MT, Grownwald J, Harrington P, Harter P, Hasmad HN, Hein A, Heitz F, Hildebrandt MA, Hillemanns P, Hogdall E, Hogdall C, Hosono S, Iversen ES, Jakubowska A, James P, Jensen A, Ji BT, Karlan BY, Kruger Kjaer S, Kelemen LE, Kellar M, Kelley JL, Kiemeney LA, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee AW, Lele S, Leminen A, Lester J, Levine DA, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, Nevanlinna H, McNeish I, Menon U, Modugno F, Moysich KB, Narod SA, Nedergaard L, Ness RB, Azmi MA, Odunsi K, Olson SH, Orlow I, Orsulic S, Weber RP, Pearce CL, Pejovic T, Pelttari LM, Permuth-Wey J, Phelan CM, Pike MC, Poole EM, Ramus SJ, Risch HA, Rosen B, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Rzepecka IK, Salvesen HB, Schildkraut JM, Schwaab I, Sellers TA, Shu XO, Shvetsov YB, Siddiqui N, Si ...
- Zhang C, Doherty JA, Burgess S, Hung RJ, Lindström S, Kraft P, Gong J, Amos C, Sellers TA, Monteiro AN, Chenevix-Trench G, Bickeböller H, Risch A, Brennan P, McKay J, Houlston R, Landi MT, Timofeeva M, Wang Y, Heinrich J, Kote-Jarai Z, Eeles RA, Muir K, Wiklund F, Grönberg H, Berndt SI, Chanock SJ, Schumacher F, Haiman CA, Henderson BE, Amin Al Olama A, Andrulis IL, Hopper JL, Chang-Claude J, John EM, Malone KE, Gammon MD, Ursin G, Whittemore AS, Hunter DJ, Gruber SB, Knight JA, Hou L, Le Marchand L, Newcomb PA, Hudson TJ, Chan AT, Li L, Woods MO, Ahsan H, Pierce BL. Genetic determinants of telomere length and risk of common cancers: a Mendelian randomization study. Hum Mol Genet. 2015 Sep.24(18):5356-5366. Pubmedid: 26138067. Pmcid: PMC4550826.
- Richards EJ, Permuth-Wey J, Li Y, Chen YA, Coppola D, Reid BM, Lin HY, Teer JK, Berchuck A, Birrer MJ, Lawrenson K, Monteiro AN, Schildkraut JM, Goode EL, Gayther SA, Sellers TA, Cheng JQ. A functional variant in HOXA11-AS, a novel long non-coding RNA, inhibits the oncogenic phenotype of epithelial ovarian cancer. Oncotarget. 2015 Oct.6(33):34745-34757. Pubmedid: 26430965. Pmcid: PMC4741487.
- Eccles D, Mitchell G, Monteiro AN, Schmutzler R, Couch FJ, Spurdle AB, Gómez-García EB. BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance. Ann Oncol. 2015 Oct.26(10):2057-2065. Pubmedid: 26153499. Pmcid: PMC5006185.
- Kar SP, Tyrer JP, Li Q, Lawrenson K, Aben KK, Anton-Culver H, Antonenkova N, Chenevix-Trench G, Baker H, Bandera E, Bean YT, Beckmann MW, Berchuck A, Bisogna M, Bjørge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bützow R, Campbell I, Carty K, Chang-Claude J, Chen YA, Chen Z, Cook LS, Cramer D, Cunningham J, Cybulski C, Dansonka-Mieszkowska A, Dennis J, Dicks E, Doherty JA, Dork T, du Bois A, Durst M, Eccles D, Easton DF, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gao YT, Gentry-Maharaj A, Giles GG, Glasspool R, Goode EL, Goodman MT, Grownwald J, Harrington P, Harter P, Hein A, Heitz F, Hildebrandt MA, Hillemanns P, Hogdall E, Hogdall CK, Hosono S, Iversen ES, Jakubowska A, Paul J, Jensen A, Ji BT, Karlan BY, Kjaer SK, Kelemen LE, Kellar M, Kelley J, Kiemeney LA, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee AW, Lele S, Leminen A, Lester J, Levine DA, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger L, Matsuo K, McGuire V, McLaughlin JR, McNeish IA, Menon U, Modugno F, Moysich KB, Narod SA, Nedergaard L, Ness RB, Nevanlinna H, Odunsi K, Olson SH, Orlow I, Orsulic S, Weber RP, Pearce CL, Pejovic T, Pelttari LM, Permuth-Wey J, Phelan CM, Pike MC, Poole EM, Ramus SJ, Risch HA, Rosen B, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Rzepecka IK, Salvesen HB, Schildkraut JM, Schwaab I, Shu XO, Shvetsov YB, Siddiqui N, Sieh W, Song H, Southey MC, Sucheston-Campbell LE, Tangen IL, Teo SH, Terry KL, Thompson PJ, Timorek A, Tsai YY, Tworog ...
- Baskin R, Woods NT, Mendoza-Fandiño G, Forsyth P, Egan KM, Monteiro AN. Functional analysis of the 11q23.3 glioma susceptibility locus implicates PHLDB1 and DDX6 in glioma susceptibility. Sci Rep. 2015 Nov.5:17367. Pubmedid: 26610392. Pmcid: PMC4661592.
- Lawrenson K, Iversen ES, Tyrer J, Weber RP, Concannon P, Hazelett DJ, Li Q, Marks JR, Berchuck A, Lee JM, Aben KK, Anton-Culver H, Antonenkova N, Bandera EV, Bean Y, Beckmann MW, Bisogna M, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bruinsma F, Butzow R, Campbell IG, Carty K, Chang-Claude J, Chenevix-Trench G, Chen A, Chen Z, Cook LS, Cramer DW, Cunningham JM, Cybulski C, Plisiecka-Halasa J, Dennis J, Dicks E, Doherty JA, Dörk T, du Bois A, Eccles D, Easton DT, Edwards RP, Eilber U, Ekici AB, Fasching PA, Fridley BL, Gao YT, Gentry-Maharaj A, Giles GG, Glasspool R, Goode EL, Goodman MT, Gronwald J, Harter P, Hasmad HN, Hein A, Heitz F, Hildebrandt MA, Hillemanns P, Hogdall E, Hogdall C, Hosono S, Jakubowska A, Paul J, Jensen A, Karlan BY, Kjaer SK, Kelemen LE, Kellar M, Kelley JL, Kiemeney LA, Krakstad C, Lambrechts D, Lambrechts S, Le ND, Lee AW, Cannioto R, Leminen A, Lester J, Levine DA, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, Nevanlinna H, McNeish I, Menon U, Modugno F, Moysich KB, Narod SA, Nedergaard L, Ness RB, Noor Azmi MA, Odunsi K, Olson SH, Orlow I, Orsulic S, Pearce CL, Pejovic T, Pelttari LM, Permuth-Wey J, Phelan CM, Pike MC, Poole EM, Ramus SJ, Risch HA, Rosen B, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Rzepecka IK, Salvesen HB, Budzilowska A, Sellers TA, Shu XO, Shvetsov YB, Siddiqui N, Sieh W, Song H, Southey MC, Sucheston L, Tangen IL, Teo SH, Terry KL, Thompson PJ, Timorek ...
- Woods NT, Jhuraney A, Monteiro AN. Incorporating computational resources in a cancer research program. Hum Genet. 2015 May.134(5):467-478. Pubmedid: 25324189. Pmcid: PMC4401625.
- Woods NT, Monteiro AN, Thompson ZJ, Amankwah EK, Naas N, Haura EB, Beg AA, Schabath MB. Interleukin polymorphisms associated with overall survival, disease-free survival, and recurrence in non-small cell lung cancer patients. Mol Carcinogen. 2015 Jun.54 Suppl 1:E172-E184. Pubmedid: 25597281. Pmcid: PMC4475444.
- Chornokur G, Lin HY, Tyrer JP, Lawrenson K, Dennis J, Amankwah EK, Qu X, Tsai YY, Jim HS, Chen Z, Chen AY, Permuth-Wey J, Aben KK, Anton-Culver H, Antonenkova N, Bruinsma F, Bandera EV, Bean YT, Beckmann MW, Bisogna M, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bunker CH, Butzow R, Campbell IG, Carty K, Chang-Claude J, Cook LS, Cramer DW, Cunningham JM, Cybulski C, Dansonka-Mieszkowska A, du Bois A, Despierre E, Dicks E, Doherty JA, Dörk T, Dürst M, Easton DF, Eccles DM, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gao YT, Gentry-Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harrington P, Harter P, Hein A, Heitz F, Hildebrandt MA, Hillemanns P, Hogdall CK, Hogdall E, Hosono S, Jakubowska A, Jensen A, Ji BT, Karlan BY, Kelemen LE, Kellar M, Kiemeney LA, Krakstad C, Kjaer SK, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee AW, Lele S, Leminen A, Lester J, Levine DA, Liang D, Lim BK, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, McNeish I, Menon U, Milne RL, Modugno F, Moysich KB, Ness RB, Nevanlinna H, Eilber U, Odunsi K, Olson SH, Orlow I, Orsulic S, Weber RP, Paul J, Pearce CL, Pejovic T, Pelttari LM, Pike MC, Poole EM, Risch HA, Rosen B, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Rzepecka IK, Salvesen HB, Schernhammer E, Schwaab I, Shu XO, Shvetsov YB, Siddiqui N, Sieh W, Song H, Southey MC, Spiewankiewicz B, Sucheston L, Teo SH, Terry KL, Thompson PJ, Thomsen L, Tangen IL, Tworoger SS, ...
- Coetzee SG, Shen HC, Hazelett DJ, Lawrenson K, Kuchenbaecker K, Tyrer J, Rhie SK, Levanon K, Karst A, Drapkin R, Ramus SJ, Couch FJ, Offit K, Chenevix-Trench G, Monteiro AN, Antoniou A, Freedman M, Coetzee GA, Pharoah PD, Noushmehr H, Gayther SA, Tworoger S, The Ovarian Cancer Association Consortium. Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci. Hum Mol Genet. 2015 Jul.24(13):3595-3607. Pubmedid: 25804953. Pmcid: PMC4459387.
- Cragun D, Camperlengo L, Robinson E, Caldwell M, Kim J, Phelan C, Monteiro AN, Vadaparampil ST, Sellers TA, Pal T. Differences in BRCA counseling and testing practices based on ordering provider type. Genet Med. 2015 Jan.17(1):51-57. Pubmedid: 24922460. Pmcid: PMC4264999.
- Egan KM, Baskin R, Nabors LB, Thompson RC, Olson JJ, Browning JE, Madden MH, Monteiro AN. Brain tumor risk according to germ-line variation in the MLLT10 locus. Eur J Hum Genet. 2015 Jan.23(1):132-134. Pubmedid: 24755950. Pmcid: PMC4266750.
- Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K, McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q, Coetzee S, Hazelett D, Miron A, Southey M, Terry MB, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, Barrowdale D, Dennis J, Benitez J, Osorio A, Garcia MJ, Komenaka I, Weitzel JN, Ganschow P, Peterlongo P, Bernard L, Viel A, Bonanni B, Peissel B, Manoukian S, Radice P, Papi L, Ottini L, Fostira F, Konstantopoulou I, Garber J, Frost D, Perkins J, Platte R, Ellis S, Godwin AK, Schmutzler RK, Meindl A, Engel C, Sutter C, Sinilnikova OM, Damiola F, Mazoyer S, Stoppa-Lyonnet D, Claes K, De Leeneer K, Kirk J, Rodriguez GC, Piedmonte M, O'Malley DM, de la Hoya M, Caldes T, Aittomäki K, Nevanlinna H, Collée JM, Rookus MA, Oosterwijk JC, Tihomirova L, Tung N, Hamann U, Isaccs C, Tischkowitz M, Imyanitov EN, Caligo MA, Campbell IG, Hogervorst FB, Olah E, Diez O, Blanco I, Brunet J, Lazaro C, Pujana MA, Jakubowska A, Gronwald J, Lubinski J, Sukiennicki G, Barkardottir RB, Plante M, Simard J, Soucy P, Montagna M, Tognazzo S, Teixeira MR, Pankratz VS, Wang X, Lindor N, Szabo CI, Kauff N, Vijai J, Aghajanian CA, Pfeiler G, Berger A, Singer CF, Tea MK, Phelan CM, Greene MH, Mai PL, Rennert G, Mulligan AM, Tchatchou S, Andrulis IL, Glendon G, Toland AE, Jensen UB, Kruse TA, Thomassen M, Bojesen A, Zidan J, Friedman E, Laitman Y, Soller M, Liljegren A, ...
- Amankwah EK, Lin HY, Tyrer JP, Lawrenson K, Dennis J, Chornokur G, Aben KK, Anton-Culver H, Antonenkova N, Bruinsma F, Bandera EV, Bean YT, Beckmann MW, Bisogna M, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bunker CH, Butzow R, Campbell IG, Carty K, Chen Z, Chen YA, Chang-Claude J, Cook LS, Cramer DW, Cunningham JM, Cybulski C, Dansonka-Mieszkowska A, du Bois A, Despierre E, Dicks E, Doherty JA, Dörk T, Dürst M, Easton DF, Eccles DM, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gao YT, Gentry-Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harrington P, Harter P, Hasmad HN, Hein A, Heitz F, Hildebrandt MA, Hillemanns P, Hogdall CK, Hogdall E, Hosono S, Iversen ES, Jakubowska A, Jensen A, Ji BT, Karlan BY, Jim H, Kellar M, Kiemeney LA, Krakstad C, Kjaer SK, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee AW, Lele S, Leminen A, Lester J, Levine DA, Liang D, Lim BK, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, McNeish I, Menon U, Milne RL, Modugno F, Moysich KB, Ness RB, Nevanlinna H, Eilber U, Odunsi K, Olson SH, Orlow I, Orsulic S, Weber RP, Paul J, Pearce CL, Pejovic T, Pelttari LM, Permuth-Wey J, Pike MC, Poole EM, Risch HA, Rosen B, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Rzepecka IK, Salvesen HB, Schernhammer E, Schwaab I, Shu XO, Shvetsov YB, Siddiqui N, Sieh W, Song H, Southey MC, Spiewankiewicz B, Sucheston-Campbell L, Teo SH, Terry KL, Thompson PJ, Thomsen L, Tangen IL, Tworoger ...
- Dutil J, Golubeva VA, Pacheco-Torres AL, Diaz-Zabala HJ, Matta JL, Monteiro AN. The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective. Breast Cancer Res Treat. 2015 Dec.154(3):441-453. Pubmedid: 26564481. Pmcid: PMC4661195.
- Pal T, Bonner D, Cragun D, Monteiro AN, Phelan C, Servais L, Kim J, Narod SA, Akbari MR, Vadaparampil ST. A high frequency of BRCA mutations in young black women with breast cancer residing in Florida. Cancer. 2015 Dec.121(23):4173-4180. Pubmedid: 26287763. Pmcid: PMC4666784.
- Jhuraney A, Velkova A, Johnson RC, Kessing B, Carvalho RS, Whiley P, Spurdle AB, Vreeswijk MP, Caputo SM, Millot GA, Vega A, Coquelle N, Galli A, Eccles D, Blok MJ, Pal T, van der Luijt RB, Santamariña Pena M, Neuhausen SL, Donenberg T, Machackova E, Thomas S, Vallée M, Couch FJ, Tavtigian SV, Glover JN, Carvalho MA, Brody LC, Sharan SK, Monteiro AN. BRCA1 Circos: a visualisation resource for functional analysis of missense variants. J Med Genet. 2015 Apr.52(4):224-230. Pubmedid: 25643705. Pmcid: PMC4392196.
- Carvalho RS, Abreu RB, Velkova A, Marsillac S, Rodarte RS, Suarez-Kurtz G, Iversen ES, Monteiro AN, Carvalho MA. Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1. PLoS One. 2014 May.9(5):e97766. Pubmedid: 24845084. Pmcid: PMC4028255.
- Iversen ES, Lipton G, Clyde MA, Monteiro AN. Functional annotation signatures of disease susceptibility loci improve SNP association analysis. BMC Genomics. 2014 May.15:398. Pubmedid: 24886216. Pmcid: PMC4041996.
- Carvalho RS, Fernandes VC, Nepomuceno TC, Rodrigues DC, Woods NT, Suarez-Kurtz G, Chammas R, Monteiro AN, Carvalho MA. Characterization of LGALS3 (galectin-3) as a player in DNA damage response. Cancer Biol Ther. 2014 Jul.15(7):840-850. Pubmedid: 24755837. Pmcid: PMC4100985.
- Madden MH, Anic GM, Thompson RC, Nabors LB, Olson JJ, Browning JE, Monteiro AN, Egan KM. Circadian pathway genes in relation to glioma risk and outcome. Cancer Causes Control. 2014 Jan.25(1):25-32. Pubmedid: 24135790. Pmcid: PMC3947318.
- Pal T, Lee JH, Besharat A, Thompson Z, Monteiro A, Phelan C, Lancaster J, Metcalfe K, Sellers T, Vadaparampil S, Narod S. Modes of delivery of genetic testing services and the uptake of cancer risk management strategies in BRCA1 and BRCA2 carriers. Clin Genet. 2014 Jan.85(1):49-53. Pubmedid: 23438721. Pmcid: PMC4519074.
- Guidugli L, Carreira A, Caputo SM, Ehlen A, Galli A, Monteiro AN, Neuhausen SL, Hansen TV, Couch FJ, Vreeswijk MP. Functional assays for analysis of variants of uncertain significance in BRCA2. Hum Mutat. 2014 Feb.35(2):151-164. Pubmedid: 24323938. Pmcid: PMC3995136.
- Pal T, Bonner D, Kim J, Monteiro AN, Kessler L, Royer R, Narod SA, Vadaparampil ST. Early onset breast cancer in a registry-based sample of African-american women: BRCA mutation prevalence, and other personal and system-level clinical characteristics. Breast J. 2013 Sep.19(2):189-192. Pubmedid: 23320992.
- Monteiro AN, Freedman ML. Lessons from postgenome-wide association studies: functional analysis of cancer predisposition loci. J Intern Med. 2013 Nov.274(5):414-424. Pubmedid: 24127939. Pmcid: PMC3801430.
- Quiles F, Fernández-Rodríguez J, Mosca R, Feliubadaló L, Tornero E, Brunet J, Blanco I, Capellá G, Pujana MÀ, Aloy P, Monteiro A, Lázaro C. Functional and structural analysis of C-terminal BRCA1 missense variants. PLoS One. 2013 Nov.8(4):e61302. Pubmedid: 23613828. Pmcid: PMC3629201.
- Tulchin N, Ornstein L, Dikman S, Strauchen J, Jaffer S, Nagi C, Bleiweiss I, Kornreich R, Edelmann L, Brown K, Bodian C, Nair VD, Chambon M, Woods NT, Monteiro AN. Localization of BRCA1 protein in breast cancer tissue and cell lines with mutations. Cancer Cell Int. 2013 Jul.13(1):70. Pubmedid: 23855721. Pmcid: PMC3720266.
- Bojesen SE, Pooley KA, Johnatty SE, Beesley J, Michailidou K, Tyrer JP, Edwards SL, Pickett HA, Shen HC, Smart CE, Hillman KM, Mai PL, Lawrenson K, Stutz MD, Lu Y, Karevan R, Woods N, Johnston RL, French JD, Chen X, Weischer M, Nielsen SF, Maranian MJ, Ghoussaini M, Ahmed S, Baynes C, Bolla MK, Wang Q, Dennis J, McGuffog L, Barrowdale D, Lee A, Healey S, Lush M, Tessier DC, Vincent D, Bacot F, Vergote I, Lambrechts S, Despierre E, Risch HA, González-Neira A, Rossing MA, Pita G, Doherty JA, Alvarez N, Larson MC, Fridley BL, Schoof N, Chang-Claude J, Cicek MS, Peto J, Kalli KR, Broeks A, Armasu SM, Schmidt MK, Braaf LM, Winterhoff B, Nevanlinna H, Konecny GE, Lambrechts D, Rogmann L, Guénel P, Teoman A, Milne RL, Garcia JJ, Cox A, Shridhar V, Burwinkel B, Marme F, Hein R, Sawyer EJ, Haiman CA, Wang-Gohrke S, Andrulis IL, Moysich KB, Hopper JL, Odunsi K, Lindblom A, Giles GG, Brenner H, Simard J, Lurie G, Fasching PA, Carney ME, Radice P, Wilkens LR, Swerdlow A, Goodman MT, Brauch H, Garcia-Closas M, Hillemanns P, Winqvist R, Dürst M, Devilee P, Runnebaum I, Jakubowska A, Lubinski J, Mannermaa A, Butzow R, Bogdanova NV, Dörk T, Pelttari LM, Zheng W, Leminen A, Anton-Culver H, Bunker CH, Kristensen V, Ness RB, Muir K, Edwards R, Meindl A, Heitz F, Matsuo K, du Bois A, Wu AH, Harter P, Teo SH, Schwaab I, Shu XO, Blot W, Hosono S, Kang D, Nakanishi T, Hartman M, Yatabe Y, Hamann U, Karlan BY, Sangrajrang S, Kjaer SK, Gaborieau V, Jensen A, Eccles D, Høgdall E, Shen CY, Brown J ...
- Domchek SM, Tang J, Stopfer J, Lilli DR, Hamel N, Tischkowitz M, Monteiro AN, Messick TE, Powers J, Yonker A, Couch FJ, Goldgar DE, Davidson HR, Nathanson KL, Foulkes WD, Greenberg RA. Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer. Cancer Discov. 2013 Apr.3(4):399-405. Pubmedid: 23269703. Pmcid: PMC3625496.
- Pharoah PD, Tsai YY, Ramus SJ, Phelan CM, Goode EL, Lawrenson K, Buckley M, Fridley BL, Tyrer JP, Shen H, Weber R, Karevan R, Larson MC, Song H, Tessier DC, Bacot F, Vincent D, Cunningham JM, Dennis J, Dicks E, Aben KK, Anton-Culver H, Antonenkova N, Armasu SM, Baglietto L, Bandera EV, Beckmann MW, Birrer MJ, Bloom G, Bogdanova N, Brenton JD, Brinton LA, Brooks-Wilson A, Brown R, Butzow R, Campbell I, Carney ME, Carvalho RS, Chang-Claude J, Chen YA, Chen Z, Chow WH, Cicek MS, Coetzee G, Cook LS, Cramer DW, Cybulski C, Dansonka-Mieszkowska A, Despierre E, Doherty JA, Dörk T, du Bois A, Dürst M, Eccles D, Edwards R, Ekici AB, Fasching PA, Fenstermacher D, Flanagan J, Gao YT, Garcia-Closas M, Gentry-Maharaj A, Giles G, Gjyshi A, Gore M, Gronwald J, Guo Q, Halle MK, Harter P, Hein A, Heitz F, Hillemanns P, Hoatlin M, Høgdall E, Høgdall CK, Hosono S, Jakubowska A, Jensen A, Kalli KR, Karlan BY, Kelemen LE, Kiemeney LA, Kjaer SK, Konecny GE, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee N, Lee J, Leminen A, Lim BK, Lissowska J, Lubiński J, Lundvall L, Lurie G, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, Menon U, Modugno F, Moysich KB, Nakanishi T, Narod SA, Ness RB, Nevanlinna H, Nickels S, Noushmehr H, Odunsi K, Olson S, Orlow I, Paul J, Pejovic T, Pelttari LM, Permuth-Wey J, Pike MC, Poole EM, Qu X, Risch HA, Rodriguez-Rodriguez L, Rossing MA, Rudolph A, Runnebaum I, Rzepecka IK, Salvesen HB, Schwaab I, Severi G, Shen H, Shridhar V, Shu XO, Sieh W, ...
- Permuth-Wey J, Lawrenson K, Shen HC, Velkova A, Tyrer JP, Chen Z, Lin HY, Ann Chen Y, Tsai YY, Qu X, Ramus SJ, Karevan R, Lee J, Lee N, Larson MC, Aben KK, Anton-Culver H, Antonenkova N, Antoniou AC, Armasu SM, Bacot F, Baglietto L, Bandera EV, Barnholtz-Sloan J, Beckmann MW, Birrer MJ, Bloom G, Bogdanova N, Brinton LA, Brooks-Wilson A, Brown R, Butzow R, Cai Q, Campbell I, Chang-Claude J, Chanock S, Chenevix-Trench G, Cheng JQ, Cicek MS, Coetzee GA, Cook LS, Couch FJ, Cramer DW, Cunningham JM, Dansonka-Mieszkowska A, Despierre E, Doherty JA, Dörk T, du Bois A, Dürst M, Easton DF, Eccles D, Edwards R, Ekici AB, Fasching PA, Fenstermacher DA, Flanagan JM, Garcia-Closas M, Gentry-Maharaj A, Giles GG, Glasspool RM, Gonzalez-Bosquet J, Goodman MT, Gore M, Górski B, Gronwald J, Hall P, Halle MK, Harter P, Heitz F, Hillemanns P, Hoatlin M, Høgdall CK, Høgdall E, Hosono S, Jakubowska A, Jensen A, Jim H, Kalli KR, Karlan BY, Kaye SB, Kelemen LE, Kiemeney LA, Kikkawa F, Konecny GE, Krakstad C, Krüger Kjaer S, Kupryjanczyk J, Lambrechts D, Lambrechts S, Lancaster JM, Le ND, Leminen A, Levine DA, Liang D, Kiong Lim B, Lin J, Lissowska J, Lu KH, Lubiński J, Lurie G, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, Menon U, Modugno F, Moysich KB, Nakanishi T, Narod SA, Nedergaard L, Ness RB, Nevanlinna H, Nickels S, Noushmehr H, Odunsi K, Olson SH, Orlow I, Paul J, Pearce CL, Pejovic T, Pelttari LM, Pike MC, Poole EM, Raska P, Renner SP, Risch HA, Rodriguez-Rodriguez L, Anne Rossing ...
- Shen H, Fridley BL, Song H, Lawrenson K, Cunningham JM, Ramus SJ, Cicek MS, Tyrer J, Stram D, Larson MC, Köbel M, Ziogas A, Zheng W, Yang HP, Wu AH, Wozniak EL, Ling Woo Y, Winterhoff B, Wik E, Whittemore AS, Wentzensen N, Palmieri Weber R, Vitonis AF, Vincent D, Vierkant RA, Vergote I, Van Den Berg D, Van Altena AM, Tworoger SS, Thompson PJ, Tessier DC, Terry KL, Teo SH, Templeman C, Stram DO, Southey MC, Sieh W, Siddiqui N, Shvetsov YB, Shu XO, Shridhar V, Wang-Gohrke S, Severi G, Schwaab I, Salvesen HB, Rzepecka IK, Runnebaum IB, Anne Rossing M, Rodriguez-Rodriguez L, Risch HA, Renner SP, Poole EM, Pike MC, Phelan CM, Pelttari LM, Pejovic T, Paul J, Orlow I, Zawiah Omar S, Olson SH, Odunsi K, Nickels S, Nevanlinna H, Ness RB, Narod SA, Nakanishi T, Moysich KB, Monteiro AN, Moes-Sosnowska J, Modugno F, Menon U, McLaughlin JR, McGuire V, Matsuo K, Mat Adenan NA, Massuger LF, Lurie G, Lundvall L, Lubiński J, Lissowska J, Levine DA, Leminen A, Lee AW, Le ND, Lambrechts S, Lambrechts D, Kupryjanczyk J, Krakstad C, Konecny GE, Krüger Kjaer S, Kiemeney LA, Kelemen LE, Keeney GL, Karlan BY, Karevan R, Kalli KR, Kajiyama H, Ji BT, Jensen A, Jakubowska A, Iversen E, Hosono S, Høgdall CK, Høgdall E, Hoatlin M, Hillemanns P, Heitz F, Hein R, Harter P, Halle MK, Hall P, Gronwald J, Gore M, Goodman MT, Giles GG, Gentry-Maharaj A, Garcia-Closas M, Flanagan JM, Fasching PA, Ekici AB, Edwards R, Eccles D, Easton DF, Dürst M, du Bois A, Dörk T, Doherty JA, Despierre E, Dansonka-Mieszko ...
- Woods NT, Mesquita RD, Sweet M, Carvalho MA, Li X, Liu Y, Nguyen H, Thomas CE, Iversen ES, Marsillac S, Karchin R, Koomen J, Monteiro AN. Charting the landscape of tandem BRCT domain-mediated protein interactions. Sci Signal. 2012 Sep.5(242):rs6. Pubmedid: 22990118. Pmcid: PMC4064718.
- Millot GA, Carvalho MA, Caputo SM, Vreeswijk MP, Brown MA, Webb M, Rouleau E, Neuhausen SL, Hansen Tv, Galli A, Brandão RD, Blok MJ, Velkova A, Couch FJ, Monteiro AN. A guide for functional analysis of BRCA1 variants of uncertain significance. Hum Mutat. 2012 Nov.33(11):1526-1537. Pubmedid: 22753008. Pmcid: PMC3470782.
- Velkova A, Monteiro AN. CHEKing out of mitosis. Cell Cycle. 2012 May.11(9):1756. Pubmedid: 22510558.
- Egan KM, Nabors LB, Olson JJ, Monteiro AN, Browning JE, Madden MH, Thompson RC. Rare TP53 genetic variant associated with glioma risk and outcome. J Med Genet. 2012 Jul.49(7):420-421. Pubmedid: 22706378. Pmcid: PMC3576847.
- Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE. ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Hum Mutat. 2012 Jan.33(1):2-7. Pubmedid: 21990146. Pmcid: PMC3240687.
- Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ. A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). Hum Mutat. 2012 Jan.33(1):8-21. Pubmedid: 21990134. Pmcid: PMC3242438.
- Gerloff DL, Woods NT, Farago AA, Monteiro AN. BRCT domains: A little more than kin, and less than kind. FEBS Lett. 2012 Aug.586(17):2711-2716. Pubmedid: 22584059. Pmcid: PMC3413754.
- Liu Y, Woods NT, Kim D, Sweet M, Monteiro AN, Karchin R. Yeast two-hybrid junk sequences contain selected linear motifs. Nucleic Acids Res. 2011 Oct.39(19):e128. Pubmedid: 21785140. Pmcid: PMC3201885.
- Velkova A, Monteiro AN. Epigenetic tumor suppression by BRCA1. Nat Med. 2011 Oct.17(10):1183-1185. Pubmedid: 21988990.
- Permuth-Wey J, Kim D, Tsai YY, Lin HY, Chen YA, Barnholtz-Sloan J, Birrer MJ, Bloom G, Chanock SJ, Chen Z, Cramer DW, Cunningham JM, Dagne G, Ebbert-Syfrett J, Fenstermacher D, Fridley BL, Garcia-Closas M, Gayther SA, Ge W, Gentry-Maharaj A, Gonzalez-Bosquet J, Goode EL, Iversen E, Jim H, Kong W, McLaughlin J, Menon U, Monteiro AN, Narod SA, Pharoah PD, Phelan CM, Qu X, Ramus SJ, Risch H, Schildkraut JM, Song H, Stockwell H, Sutphen R, Terry KL, Tyrer J, Vierkant RA, Wentzensen N, Lancaster JM, Cheng JQ, Sellers TA. LIN28B polymorphisms influence susceptibility to epithelial ovarian cancer. Cancer Res. 2011 Jun.71(11):3896-3903. Pubmedid: 21482675. Pmcid: PMC3107389.
- Freedman ML, Monteiro AN, Gayther SA, Coetzee GA, Risch A, Plass C, Casey G, De Biasi M, Carlson C, Duggan D, James M, Liu P, Tichelaar JW, Vikis HG, You M, Mills IG. Principles for the post-GWAS functional characterization of cancer risk loci. Nat Genetics. 2011 Jun.43(6):513-518. Pubmedid: 21614091. Pmcid: PMC3325768.
- Iversen ES, Couch FJ, Goldgar DE, Tavtigian SV, Monteiro AN. A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. Cancer Epidemiol Biomarkers Prev. 2011 Jun.20(6):1078-1088. Pubmedid: 21447777. Pmcid: PMC3111818.
- Freeman AK, Monteiro AN. Phosphatases in the cellular response to DNA damage. Cell Commun Signal. 2010 Sep.8:27. Pubmedid: 20860841. Pmcid: PMC2954851.
- Price M, Monteiro AN. Fine tuning chemotherapy to match BRCA1 status. Biochem Pharmacol. 2010 Sep.80(5):647-653. Pubmedid: 20510205. Pmcid: PMC2925507.
- Mesquita RD, Woods NT, Seabra-Junior ES, Monteiro AN. Tandem BRCT Domains: DNA's Praetorian Guard. Genes Cancer. 2010 Nov.1(11):1140-1146. Pubmedid: 21533002. Pmcid: PMC3082952.
- Tulchin N, Chambon M, Juan G, Dikman S, Strauchen J, Ornstein L, Billack B, Woods NT, Monteiro AN. BRCA1 protein and nucleolin colocalize in breast carcinoma tissue and cancer cell lines. Am J Pathol. 2010 Mar.176(3):1203-1214. Pubmedid: 20075200. Pmcid: PMC2832143.
- Lee MS, Green R, Marsillac SM, Coquelle N, Williams RS, Yeung T, Foo D, Hau DD, Hui B, Monteiro AN, Glover JN. Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. Cancer Res. 2010 Jun.70(12):4880-4890. Pubmedid: 20516115. Pmcid: PMC3040717.
- Freeman AK, Dapic V, Monteiro AN. Negative regulation of CHK2 activity by protein phosphatase 2A is modulated by DNA damage. Cell Cycle. 2010 Feb.9(4):736-747. Pubmedid: 20160490. Pmcid: PMC3040716.
- Metro G, Zheng Z, Fabi A, Schell M, Antoniani B, Mottolese M, Monteiro AN, Vici P, Lara Rivera S, Boulware D, Cognetti F, Bepler G. In situ protein expression of RRM1, ERCC1, and BRCA1 in metastatic breast cancer patients treated with gemcitabine-based chemotherapy. Cancer Invest. 2010 Feb.28(2):172-180. Pubmedid: 19968494. Pmcid: PMC3565222.
- Rios-Doria J, Meléndez J, Monteiro AN. Three-color intranuclear staining for measuring mitosis and apoptosis in cells transfected with a GFP-tagged histone. Biotech Histochem. 2010 Apr.85(2):127-131. Pubmedid: 19657782.
- Velkova A, Carvalho MA, Johnson JO, Tavtigian SV, Monteiro AN. Identification of Filamin A as a BRCA1-interacting protein required for efficient DNA repair. Cell Cycle. 2010 Apr.9(7):1421-1433. Pubmedid: 20305393. Pmcid: PMC3040726.
- Rios-Doria J, Velkova A, Dapic V, Galán-Caridad JM, Dapic V, Carvalho MA, Melendez J, Monteiro AN. Ectopic expression of histone H2AX mutants reveals a role for its post-translational modifications. Cancer Biol Ther. 2009 Mar.8(5):422-434. Pubmedid: 19305155.
- De Ligio JT, Velkova A, Zorio DA, Monteiro AN. Can the status of the breast and ovarian cancer susceptibility gene 1 product (BRCA1) predict response to taxane-based cancer therapy?. Anticancer Agents Med Chem. 2009 Jun.9(5):543-549. Pubmedid: 19519295. Pmcid: PMC2745270.
- Carvalho M, Pino MA, Karchin R, Beddor J, Godinho-Netto M, Mesquita RD, Rodarte RS, Vaz DC, Monteiro VA, Manoukian S, Colombo M, Ripamonti CB, Rosenquist R, Suthers G, Borg A, Radice P, Grist SA, Monteiro AN, Billack B. Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1. Mutat Res-Fund Mol M. 2009 Jan.660(1-2):1-11. Pubmedid: 18992264. Pmcid: PMC2682550.
- Yamaguchi H, Woods NT, Piluso LG, Lee HH, Chen J, Bhalla KN, Monteiro A, Liu X, Hung MC, Wang HG. p53 acetylation is crucial for its transcription-independent proapoptotic functions. J Biol Chem. 2009 Apr.284(17):11171-11183. Pubmedid: 19265193. Pmcid: PMC2670122.
- Couch FJ, Rasmussen LJ, Hofstra R, Monteiro AN, Greenblatt MS, de Wind N. Assessment of functional effects of unclassified genetic variants. Hum Mutat. 2008 Nov.29(11):1314-1326. Pubmedid: 18951449. Pmcid: PMC2771414.
- Tischkowitz M, Hamel N, Carvalho MA, Birrane G, Soni A, van Beers EH, Joosse SA, Wong N, Novak D, Quenneville LA, Grist SA, Nederlof PM, Goldgar DE, Tavtigian SV, Monteiro AN, Ladias JA, Foulkes WD. Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. Eur J Hum Genet. 2008 Jul.16(7):820-832. Pubmedid: 18285836. Pmcid: PMC3905962.
- Barnholtz-Sloan J, Sloan AE, Land S, Kupsky W, Monteiro AN. Somatic alterations in brain tumors. Oncol Rep. 2008 Jul.20(1):203-210. Pubmedid: 18575738. Pmcid: PMC3933973.
- Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet. 2007 Nov.81(5):873-883. Pubmedid: 17924331. Pmcid: PMC2265654.
- Carvalho MA, Monteiro AN. Correction: functional analysis of BRCA1 M1628V variant. J Med Genet. 2007 May.44(5):e78. Pubmedid: 17311832. Pmcid: PMC2597988.
- Carvalho MA, Couch FJ, Monteiro AN. Functional assays for BRCA1 and BRCA2. Int J Biochem Cell B. 2007 Jun.39(2):298-310. Pubmedid: 16978908. Pmcid: PMC1862449.
- Gomes MC, Costa MM, Borojevic R, Monteiro A, Vieira R, Koifman S, Koifman RJ, Li S, Royer R, Zhang S, Narod SA. Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil. Breast Cancer Res Treat. 2007 Jul.103(3):349-353. Pubmedid: 17063270.
- Karchin R, Monteiro AN, Tavtigian SV, Carvalho MA, Sali A. Functional impact of missense variants in BRCA1 predicted by supervised learning. PLoS Comput Biol. 2007 Feb.3(2):e26. Pubmedid: 17305420. Pmcid: PMC1797820.
- Carvalho MA, Marsillac SM, Karchin R, Manoukian S, Grist S, Swaby RF, Urmenyi TP, Rondinelli E, Silva R, Gayol L, Baumbach L, Sutphen R, Pickard-Brzosowicz JL, Nathanson KL, Sali A, Goldgar D, Couch FJ, Radice P, Monteiro AN. Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. Cancer Res. 2007 Feb.67(4):1494-1501. Pubmedid: 17308087. Pmcid: PMC2936786.
- Gronwald J, Huzarski T, Byrski B, Medrek K, Menkiszak J, Monteiro A, Sun P, Lubinski J, Narod S. Cancer risks in first degree relatives of BRCA1 mutation carriers: effects of mutation and proband disease status. J Med Genet. 2006 May.43(5):424-428. Pubmedid: 16227521. Pmcid: PMC2564518.
- Monteiro AN. Involvement of the SH3 domain in Ca2+-mediated regulation of Src family kinases. Biochimie. 2006 Jul.88(7):905-911. Pubmedid: 16546311.
- Rios-Doria J, Fay A, Velkova A, Monteiro A. DNA damage response: determining the fate of phosphorylated histone H2AX. Cancer Biol Ther. 2006 Feb.5(2):142-144. Pubmedid: 16552174.
- Monteiro A, Couch F. Cancer risk assessment at the atomic level. Cancer Res. 2006 Feb.66(4):1897-1899. Pubmedid: 16488985.
- Chiarini LB, Takiya CM, Borojevic R, Monteiro AN. Long-term culture of cholangiocytes from liver fibro-granulomatous lesions. BMC Gastroenterol. 2006 Apr.6:13. Pubmedid: 16584555. Pmcid: PMC1448193.
- Kaufman B, Laitman Y, Carvalho M, Edelman L, Menachem T, Zidan J, Monteiro A, Friedman E. The P1812A and P25T BRCA1 and the 5164del4 BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews. Genet Test. 2006.10(3):200-207. Pubmedid: 17020472.
- Dapic V, Monteiro A. Functional implications of BRCA1 for early detection, prevention, and treatment of breast cancer. Crit Rev Eukaryot Gene Expr. 2006.16(3):233-252. Pubmedid: 17073553.
- Billack B, Monteiro A. BRCA1 in breast and ovarian cancer predisposition. Cancer Lett. 2005 Oct.227(1):1-7. Pubmedid: 16051027.
- Phelan CM, Dapic V, Tice B, Favis R, Kwan E, Barany F, Manoukian S, Radice P, van der Luijt RB, van Nesselrooij BP, Chenevix-Trench G, kConFab, Caldes T, de la Hoya M, Lindquist S, Tavtigian SV, Goldgar D, Borg A, Narod SA, Monteiro AN. Classification of BRCA1 missense variants of unknown clinical significance. J Med Genet. 2005 Feb.42(2):138-146. Pubmedid: 15689452. Pmcid: PMC1735988.
- Dapic V, Carvalho MA, Monteiro AN. Breast cancer susceptibility and the DNA damage response. Cancer Control. 2005 Apr.12(2):127-136. Pubmedid: 15855896.
- Goldgar DE, Easton DF, Deffenbaugh AM, Monteiro AN, Tavtigian SV, Couch FJ. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet. 2004 Oct.75(4):535-544. Pubmedid: 15290653. Pmcid: PMC1182042.
- Billack B, Monteiro A. Methods to classify BRCA1 variants of uncertain clinical significance: the more the merrier. Cancer Biol Ther. 2004 May.3(5):458-459. Pubmedid: 15118412.
- Szabo CI, Worley T, Monteiro AN. Understanding germ-line mutations in BRCA1. Cancer Biol Ther. 2004 Jun.3(6):515-520. Pubmedid: 15254424.
- Geremias A, Carvalho M, Borojevic R, Monteiro A. TGF beta1 and PDGF AA override collagen type I inhibition of proliferation in human liver connective tissue cells. BMC Gastroenterol. 2004 Dec.4:30. Pubmedid: 15579200. Pmcid: PMC539266.
- Mirkovic N, Marti Renom MA, Weber BL, Sali A, Monteiro AN. Structure based assessment of missense mutations in human BRCA1: implications for breast and ovarian predisposition. Cancer Res. 2004.64(11):3790-3797. Pubmedid: 15172985.
- Lubinski J, Phelan CM, Ghadirian P, Lynch HT, Garber J, Weber B, Tung N, Horsman D, Monteiro AN, Sun P, Narod SA. Cancer variation associated with the position of the mutation in the BRCA2 gene. Familial Cancer. 2004.3(1):1-10. Pubmedid: 15131399.
- Summy JM, Sudol M, Eck MJ, Monteiro AN, Gatesman A, Flynn DC. Specificity in signaling by c-Yes. Front Biosci (Landmark Ed). 2003 Jan.8:s185-s205. Pubmedid: 12456296.
- Monteiro AN, Zhang S, Phelan CM, Narod SA. Absence of constitutional H2AX gene mutations in 101 hereditary breast cancer families. J Med Genet. 2003 Apr.40(4):e51. Pubmedid: 12676924. Pmcid: PMC1735420.
- Monteiro AN. BRCA1: the enigma of tissue-specific tumor development. Trends Genet. 2003.19(6):312-315. Pubmedid: 12801723.
- Carvalho MA, Billack B, Chan E, Worley T, Cayanan C, Monteiro AN. Mutations in the BRCT domain confer temperature sensitivity to BRCA1 in transcription activation. Cancer Biol Ther. 2002 Sep.1(5):502-508. Pubmedid: 12496477.
- Monteiro A. Participation of BRCA1 in the DNA repair response...via transcription. Cancer Biol Ther. 2002 Mar.1(2):187-188. Pubmedid: 12212615.
- Worley T, Vallon-Christersson J, Billack B, Borg A, Monteiro AN. A naturally occurring allele of BRCA1 coding for a temperature-sensitive mutant protein. Cancer Biol Ther. 2002.1(5):497-501. Pubmedid: 12496476.
- Vallon Christersson, Cayanan C, Haraldsson K, Loman N, Bergthorsson JT, Brondum Nielsen K, Gerdes AM, Moller P, Kristoffersson U, Olsson H, Borg A, Monteiro AN. Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. Hum Mol Genet. 2001 Feb.10(4):353-360. Pubmedid: 11157798. Pmcid: PMC4756649.
- Nadeau G, Boufaied N, Moisan A, Lemieux KM, Cayanan C, Monteiro AN, Gaudreau L. BRCA1 can stimulate gene transcription by a unique mechanism. EMBO Rep. 2000 Sep.1(3):260-265. Pubmedid: 11256609. Pmcid: PMC1083733.
- Monteiro AN. BRCA1: exploring the links to transcription. Trends Biochem Sci. 2000 Oct.25(10):469-474. Pubmedid: 11050427.
- Hayes F, Cayanan C, Barilla D, Monteiro AN. Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. Cancer Res. 2000 May.60(9):2411-2418. Pubmedid: 10811118. Pmcid: PMC4893312.
- Monteiro AN, Birge RB. A nuclear function for the tumor suppressor BRCA1. Histol Histopathol. 2000 01.15(1):299-307. Pubmedid: 10668218.
- Ouchi T, Monteiro AN, August A, Aaronson SA, Hanafusa H. BRCA1 regulates p53-dependent gene expression. Proc Natl Acad Sci U S A. 1998 Mar.95(5):2302-2306. Pubmedid: 9482880. Pmcid: PMC19327.
- Monteiro AN, August A, Hanafusa H. Common BRCA1 variants and transcriptional activation. Am J Hum Genet. 1997 Sep.61(3):761-762. Pubmedid: 9326340. Pmcid: PMC1715961.
- Monteiro AN, August A, Hanafusa H. Evidence for a transcriptional activation function of BRCA1 C-terminal region. Proc Natl Acad Sci U S A. 1996 Nov.93(24):13595-13599. Pubmedid: 8942979. Pmcid: PMC19361.
- Monteiro AN, Borojevic R. Complement-dependent induction of DNA synthesis and cell proliferation in human liver connective tissue cells in vitro. In Vitro Cell Dev-An. 1995 Feb.31(2):149-155. Pubmedid: 7735566.
- Monteiro AN, Geremias AT, Borojevic R. Clonal heterogeneity in murine liver myofibroblasts. Braz J Med Biol Res. 1995 Apr.28(4):457-466. Pubmedid: 8520543.
- Chiarini LB, Borojevic R, Monteiro AN. In vitro collagen synthesis by liver connective tissue cells isolated from schistosomal granulomas. Braz J Med Biol Res. 1994 May.27(5):1193-1197. Pubmedid: 8000340.
- Tokiwa T, Kusaka Y, Muraoka A, Monteiro AN, Sato J. Effect of various factors and substrates on the growth of a human hepatoblastoma cell line, HuH-6 in a serum-free medium. Acta Med Okayama. 1989 Dec.43(6):359-362. Pubmedid: 2624143.
- Monteiro AN, Borojevic R. Interaction of human liver connective tissue cells, skin fibroblasts and smooth muscle cells with collagen gels. Hepatology. 1987 Jul.7(4):665-671. Pubmedid: 3301615.
- Monteiro AN, Borojevic R. In vitro formation of fibrous septa by liver connective tissue cells. In Vitro Cell Dev Biol. 1987 Jan.23(1):10-14. Pubmedid: 3100500.
- Borojevic R, Vinhas SA, Monteiro AN, Domont GB, Zyngier FR, Grimaud JA. Liver connective tissue cells isolated from human schistosomal fibrosis or alcoholic cirrhosis represent a modified phenotype of smooth muscle cells. Biol Cell. 1985.53(3):231-238. Pubmedid: 3160417.
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Grants
- Title: Refining Risk Stratification for BRCA 1/2 Carriers: The Challenge of Intermediate Risk Variants
Sponsor: Breast Cancer Research Fdtn
PI: Monteiro, A. - Title: 2/2 Ponce Health Sciences University-Moffitt Cancer Center Partnership
Sponsor: Nat Institutes of Health
PI (Contact): Wright, K., PI (MPI): Monteiro, A., Project PI: Peres, L.
- Title: Refining Risk Stratification for BRCA 1/2 Carriers: The Challenge of Intermediate Risk Variants