RT Journal Article
SR Electronic
T1 Pathology of Breast and Ovarian Cancers among *BRCA1* and *BRCA2* Mutation Carriers: Results from the Consortium of Investigators of Modifiers of *BRCA1*/*2* (CIMBA)
JF Cancer Epidemiology Biomarkers & Prevention
JO Cancer Epidemiol Biomarkers Prev
FD American Association for Cancer Research
SP 134
OP 147
DO 10.1158/1055-9965.EPI-11-0775
VO 21
IS 1
A1 Mavaddat, Nasim
A1 Barrowdale, Daniel
A1 Andrulis, Irene L.
A1 Domchek, Susan M.
A1 Eccles, Diana
A1 Nevanlinna, Heli
A1 Ramus, Susan J.
A1 Spurdle, Amanda
A1 Robson, Mark
A1 Sherman, Mark
A1 Mulligan, Anna Marie
A1 Couch, Fergus J.
A1 Engel, Christoph
A1 McGuffog, Lesley
A1 Healey, Sue
A1 Sinilnikova, Olga M.
A1 Southey, Melissa C.
A1 Terry, Mary Beth
A1 Goldgar, David
A1 O'Malley, Frances
A1 John, Esther M.
A1 Janavicius, Ramunas
A1 Tihomirova, Laima
A1 Hansen, Thomas V. O.
A1 Nielsen, Finn C.
A1 Osorio, Ana
A1 Stavropoulou, Alexandra
A1 Benítez, Javier
A1 Manoukian, Siranoush
A1 Peissel, Bernard
A1 Barile, Monica
A1 Volorio, Sara
A1 Pasini, Barbara
A1 Dolcetti, Riccardo
A1 Putignano, Anna Laura
A1 Ottini, Laura
A1 Radice, Paolo
A1 Hamann, Ute
A1 Rashid, Muhammad U.
A1 Hogervorst, Frans B.
A1 Kriege, Mieke
A1 van der Luijt, Rob B.
A1 Peock, Susan
A1 Frost, Debra
A1 Evans, D. Gareth
A1 Brewer, Carole
A1 Walker, Lisa
A1 Rogers, Mark T.
A1 Side, Lucy E.
A1 Houghton, Catherine
A1 Weaver, JoEllen
A1 Godwin, Andrew K.
A1 Schmutzler, Rita K.
A1 Wappenschmidt, Barbara
A1 Meindl, Alfons
A1 Kast, Karin
A1 Arnold, Norbert
A1 Niederacher, Dieter
A1 Sutter, Christian
A1 Deissler, Helmut
A1 Gadzicki, Doroteha
A1 Preisler-Adams, Sabine
A1 Varon-Mateeva, Raymonda
A1 Schönbuchner, Ines
A1 Gevensleben, Heidrun
A1 Stoppa-Lyonnet, Dominique
A1 Belotti, Muriel
A1 Barjhoux, Laure
A1 Isaacs, Claudine
A1 Peshkin, Beth N.
A1 Caldes, Trinidad
A1 de la Hoya, Miguel
A1 Cañadas, Carmen
A1 Heikkinen, Tuomas
A1 Heikkilä, Päivi
A1 Aittomäki, Kristiina
A1 Blanco, Ignacio
A1 Lazaro, Conxi
A1 Brunet, Joan
A1 Agnarsson, Bjarni A.
A1 Arason, Adalgeir
A1 Barkardottir, Rosa B.
A1 Dumont, Martine
A1 Simard, Jacques
A1 Montagna, Marco
A1 Agata, Simona
A1 D'Andrea, Emma
A1 Yan, Max
A1 Fox, Stephen
A1 Rebbeck, Timothy R.
A1 Rubinstein, Wendy
A1 Tung, Nadine
A1 Garber, Judy E.
A1 Wang, Xianshu
A1 Fredericksen, Zachary
A1 Pankratz, Vernon S.
A1 Lindor, Noralane M.
A1 Szabo, Csilla
A1 Offit, Kenneth
A1 Sakr, Rita
A1 Gaudet, Mia M.
A1 Singer, Christian F.
A1 Tea, Muy-Kheng
A1 Rappaport, Christine
A1 Mai, Phuong L.
A1 Greene, Mark H.
A1 Sokolenko, Anna
A1 Imyanitov, Evgeny
A1 Toland, Amanda Ewart
A1 Senter, Leigha
A1 Sweet, Kevin
A1 Thomassen, Mads
A1 Gerdes, Anne-Marie
A1 Kruse, Torben
A1 Caligo, Maria
A1 Aretini, Paolo
A1 Rantala, Johanna
A1 von Wachenfeld, Anna
A1 Henriksson, Karin
A1 Steele, Linda
A1 Neuhausen, Susan L.
A1 Nussbaum, Robert
A1 Beattie, Mary
A1 Odunsi, Kunle
A1 Sucheston, Lara
A1 Gayther, Simon A.
A1 Nathanson, Kate
A1 Gross, Jenny
A1 Walsh, Christine
A1 Karlan, Beth
A1 Chenevix-Trench, Georgia
A1 Easton, Douglas F.
A1 Antoniou, Antonis C.
YR 2012
UL http://cebp.aacrjournals.org/content/21/1/134.abstract
AB 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 × 10−5), but increased with age at diagnosis among BRCA2, carriers (P-trend = 6.8 × 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-positive tumors (grade 3 vs. grade 1; P = 1.2 × 10−13 for BRCA1 and P = 0.001 for BRCA2). ER and progesterone receptor (PR) expression were independently associated with mutation carrier status [ER-positive odds ratio (OR) for BRCA2 = 9.4, 95% CI: 7.0–12.6 and PR-positive OR = 1.7, 95% CI: 1.3–2.3, under joint analysis]. Lobular tumors were more likely to be BRCA2-related (OR for BRCA2 = 3.3, 95% CI: 2.4–4.4; P = 4.4 × 10−14), and medullary tumors BRCA1-related (OR for BRCA2 = 0.25, 95% CI: 0.18–0.35; P = 2.3 × 10−15). ER-status of the first breast cancer was predictive of ER-status of asynchronous contralateral breast cancer (P = 0.0004 for BRCA1; P = 0.002 for BRCA2). There were no significant differences in ovarian cancer morphology between BRCA1 and BRCA2 carriers (serous: 67%; mucinous: 1%; endometrioid: 12%; clear-cell: 2%). 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. ©2011 AACR.