Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

N Mavaddat, D Barrowdale, IL Andrulis, SM Domchek, D Eccles, H Nevanlinna, SJ Ramus, A Spurdle, M Robson, M Sherman, AM Mulligan, FJ Couch, C Engel, L McGuffog, S Healey, OM Sinilnikova, MC Southey, MB Terry, D Goldgar, F O'MalleyEM John, R Janavicius, L Tihomirova, TVO Hansen, FC Nielsen, A Osorio, A Stavropoulou, J Benitez, S Manoukian, B Peissel, M Barile, S Volorio, B pasini, R Dolcetti, AL Putignano, L Ottini, P Radice, U Hamann, MU Rashid, FB Hogervorst, Mieke Kriege, RB van der Luijt, S Peock, D Frost, DG Evans, C Brewer, L Walker, MT Rogers, LE Side, C Houghton, J Weaver, AK Godwin, RK Schmutzler, B Wappenschmidt, A Meindl, K Kast, N Arnold, D Niederacher, C Sutter, H Deissler, D Gadzicki, S Preisler-Adams, R Varon-Mateeva, I Schonbuchner, H Gevensleben, D Stoppa-Lyonnet, M Belotti, L Barjhoux, C Isaacs, BN Peshkin, T Caldes, M de la Hoya, C Canadas, T Heikkinen, P Heikkila, K Aittomaki, I Blanco, C (Conxi) Lazaro, J Brunet, BA Agnarsson, A Arason, RB Barkardottir, M Dumont, J Simard, M Montagna, S Agata, E D'Andrea, M Yan, S Fox, TR Rebbeck, W Rubinstein, N Tung, JE Garber, XS Wang, Z Fredericksen, VS Pankratz, NM Lindor, C Szabo, K Offit, R Sakr, MM Gaudet, CF Singer, MK Tea, C Rappaport, PL Mai, MH Greene, A Sokolenko, E Imyanitov, AE Toland, L Senter, K Sweet, Marga Thomassen, AM Gerdes, T Kruse, M Caligo, P Aretini, J Rantala, A von Wachenfeld, K Henriksson, L Steele, SL Neuhausen, R Nussbaum, M Beattie, K Odunsi, L Sucheston, SA Gayther, K Nathanson, J Gross, C Walsh, B Karlan, G Chenevix-Trench, DF Easton, AC Antoniou

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Abstract

Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets of mutation carriers should allow further tumor characterization. Methods: We used data from 4,325 BRCA1 and 2,568 BRCA2 mutation carriers to analyze the pathology of invasive breast, ovarian, and contralateral breast cancers. Results: There was strong evidence that the proportion of estrogen receptor (ER)-negative breast tumors decreased with age at diagnosis among BRCA1 (P-trend = 1.2 x 10(-5)), but increased with age at diagnosis among BRCA2, carriers (P-trend 6.8 x 10(-6)). The proportion of triple-negative tumors decreased with age at diagnosis in BRCA1 carriers but increased with age at diagnosis of BRCA2 carriers. In both BRCA1 and BRCA2 carriers, ER-negative tumors were of higher histologic grade than ER-posit Conclusions/Impact: Pathologic characteristics of BRCA1 and BRCA2 tumors may be useful for improving risk-prediction algorithms and informing clinical strategies for screening and prophylaxis. Cancer Epidemiol Biomarkers Prev; 21(1); 134-47. (C) 2011 AACR.
Original languageUndefined/Unknown
Pages (from-to)134-147
Number of pages14
JournalCancer Epidemiology Biomarkers & Prevention
Volume21
Issue number1
DOIs
Publication statusPublished - 2012

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