RT Journal Article
SR Electronic
T1 Common Variants at the 19p13.1 and *ZNF365* Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in *BRCA1* and *BRCA2* Mutation Carriers
JF Cancer Epidemiology Biomarkers & Prevention
JO Cancer Epidemiol Biomarkers Prev
FD American Association for Cancer Research
SP 645
OP 657
DO 10.1158/1055-9965.EPI-11-0888
VO 21
IS 4
A1 Couch, Fergus J.
A1 Gaudet, Mia M.
A1 Antoniou, Antonis C.
A1 Ramus, Susan J.
A1 Kuchenbaecker, Karoline B.
A1 Soucy, Penny
A1 Beesley, Jonathan
A1 Chen, Xiaoqing
A1 Wang, Xianshu
A1 Kirchhoff, Tomas
A1 McGuffog, Lesley
A1 Barrowdale, Daniel
A1 Lee, Andrew
A1 Healey, Sue
A1 Sinilnikova, Olga M.
A1 Andrulis, Irene L.
A1 Ozcelik, Hilmi
A1 Mulligan, Anna Marie
A1 Thomassen, Mads
A1 Gerdes, Anne-Marie
A1 Jensen, Uffe Birk
A1 Skytte, Anne-Bine
A1 Kruse, Torben A.
A1 Caligo, Maria A.
A1 von Wachenfeldt, Anna
A1 Barbany-Bustinza, Gisela
A1 Loman, Niklas
A1 Soller, Maria
A1 Ehrencrona, Hans
A1 Karlsson, Per
A1 Nathanson, Katherine L.
A1 Rebbeck, Timothy R.
A1 Domchek, Susan M.
A1 Jakubowska, Ania
A1 Lubinski, Jan
A1 Jaworska, Katarzyna
A1 Durda, Katarzyna
A1 Złowocka, Elżbieta
A1 Huzarski, Tomasz
A1 Byrski, Tomasz
A1 Gronwald, Jacek
A1 Cybulski, Cezary
A1 Górski, Bohdan
A1 Osorio, Ana
A1 Durán, Mercedes
A1 Tejada, María Isabel
A1 Benitez, Javier
A1 Hamann, Ute
A1 Hogervorst, Frans B.L.
A1 van Os, Theo A.
A1 van Leeuwen, Flora E.
A1 Meijers-Heijboer, Hanne E.J.
A1 Wijnen, Juul
A1 Blok, Marinus J.
A1 Kets, Marleen
A1 Hooning, Maartje J.
A1 Oldenburg, Rogier A.
A1 Ausems, Margreet G.E.M.
A1 Peock, Susan
A1 Frost, Debra
A1 Ellis, Steve D.
A1 Platte, Radka
A1 Fineberg, Elena
A1 Evans, D. Gareth
A1 Jacobs, Chris
A1 Eeles, Rosalind A.
A1 Adlard, Julian
A1 Davidson, Rosemarie
A1 Eccles, Diana M.
A1 Cole, Trevor
A1 Cook, Jackie
A1 Paterson, Joan
A1 Brewer, Carole
A1 Douglas, Fiona
A1 Hodgson, Shirley V.
A1 Morrison, Patrick J.
A1 Walker, Lisa
A1 Porteous, Mary E.
A1 Kennedy, M. John
A1 Side, Lucy E.
A1 Bove, Betsy
A1 Godwin, Andrew K.
A1 Stoppa-Lyonnet, Dominique
A1 Fassy-Colcombet, Marion
A1 Castera, Laurent
A1 Cornelis, François
A1 Mazoyer, Sylvie
A1 Léoné, Mélanie
A1 Boutry-Kryza, Nadia
A1 Bressac-de Paillerets, Brigitte
A1 Caron, Olivier
A1 Pujol, Pascal
A1 Coupier, Isabelle
A1 Delnatte, Capucine
A1 Akloul, Linda
A1 Lynch, Henry T.
A1 Snyder, Carrie L.
A1 Buys, Saundra S.
A1 Daly, Mary B.
A1 Terry, MaryBeth
A1 Chung, Wendy K.
A1 John, Esther M.
A1 Miron, Alexander
A1 Southey, Melissa C.
A1 Hopper, John L.
A1 Goldgar, David E.
A1 Singer, Christian F.
A1 Rappaport, Christine
A1 Tea, Muy-Kheng M.
A1 Fink-Retter, Anneliese
A1 Hansen, Thomas V.O.
A1 Nielsen, Finn C.
A1 Arason, Aðalgeir
A1 Vijai, Joseph
A1 Shah, Sohela
A1 Sarrel, Kara
A1 Robson, Mark E.
A1 Piedmonte, Marion
A1 Phillips, Kelly
A1 Basil, Jack
A1 Rubinstein, Wendy S.
A1 Boggess, John
A1 Wakeley, Katie
A1 Ewart-Toland, Amanda
A1 Montagna, Marco
A1 Agata, Simona
A1 Imyanitov, Evgeny N.
A1 Isaacs, Claudine
A1 Janavicius, Ramunas
A1 Lazaro, Conxi
A1 Blanco, Ignacio
A1 Feliubadalo, Lidia
A1 Brunet, Joan
A1 Gayther, Simon A.
A1 Pharoah, Paul P.D.
A1 Odunsi, Kunle O.
A1 Karlan, Beth Y.
A1 Walsh, Christine S.
A1 Olah, Edith
A1 Teo, Soo Hwang
A1 Ganz, Patricia A.
A1 Beattie, Mary S.
A1 van Rensburg, Elizabeth J.
A1 Dorfling, Cecelia M.
A1 Diez, Orland
A1 Kwong, Ava
A1 Schmutzler, Rita K.
A1 Wappenschmidt, Barbara
A1 Engel, Christoph
A1 Meindl, Alfons
A1 Ditsch, Nina
A1 Arnold, Norbert
A1 Heidemann, Simone
A1 Niederacher, Dieter
A1 Preisler-Adams, Sabine
A1 Gadzicki, Dorothea
A1 Varon-Mateeva, Raymonda
A1 Deissler, Helmut
A1 Gehrig, Andrea
A1 Sutter, Christian
A1 Kast, Karin
A1 Fiebig, Britta
A1 Heinritz, Wolfram
A1 Caldes, Trinidad
A1 de la Hoya, Miguel
A1 Muranen, Taru A.
A1 Nevanlinna, Heli
A1 Tischkowitz, Marc D.
A1 Spurdle, Amanda B.
A1 Neuhausen, Susan L.
A1 Ding, Yuan Chun
A1 Lindor, Noralane M.
A1 Fredericksen, Zachary
A1 Pankratz, V. Shane
A1 Peterlongo, Paolo
A1 Manoukian, Siranoush
A1 Peissel, Bernard
A1 Zaffaroni, Daniela
A1 Barile, Monica
A1 Bernard, Loris
A1 Viel, Alessandra
A1 Giannini, Giuseppe
A1 Varesco, Liliana
A1 Radice, Paolo
A1 Greene, Mark H.
A1 Mai, Phuong L.
A1 Easton, Douglas F.
A1 Chenevix-Trench, Georgia
A1 Offit, Kenneth
A1 Simard, Jacques
YR 2012
UL http://cebp.aacrjournals.org/content/21/4/645.abstract
AB Background: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Methods: Genotyping data for 12,599 BRCA1 and 7,132 BRCA2 mutation carriers from 40 studies were combined. Results: We confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers [HR, 1.17; 95% confidence interval (CI), 1.07–1.27; P = 7.42 × 10−4] and between rs16917302 at ZNF365 (HR, 0.84; 95% CI, 0.73–0.97; P = 0.017) but not rs311499 at 20q13.3 (HR, 1.11; 95% CI, 0.94–1.31; P = 0.22) and breast cancer risk for BRCA2 mutation carriers. Analyses based on tumor histopathology showed that 19p13 variants were predominantly associated with estrogen receptor (ER)-negative breast cancer for both BRCA1 and BRCA2 mutation carriers, whereas rs16917302 at ZNF365 was mainly associated with ER-positive breast cancer for both BRCA1 and BRCA2 mutation carriers. We also found for the first time that rs67397200 at 19p13.1 was associated with an increased risk of ovarian cancer for BRCA1 (HR, 1.16; 95% CI, 1.05–1.29; P = 3.8 × 10−4) and BRCA2 mutation carriers (HR, 1.30; 95% CI, 1.10–1.52; P = 1.8 × 10−3). Conclusions: 19p13.1 and ZNF365 are susceptibility loci for ovarian cancer and ER subtypes of breast cancer among BRCA1 and BRCA2 mutation carriers. Impact: These findings can lead to an improved understanding of tumor development and may prove useful for breast and ovarian cancer risk prediction for BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev; 21(4); 645–57. ©2012 AACR.