Siddiq, Afshan ORCID: 0000-0002-9110-1434, Couch, Fergus J., Chen, Gary K., Lindstrom, Sara, Eccles, Diana ORCID: 0000-0002-9935-3169, Millikan, Robert C., Michailidou, Kyriaki ORCID: 0000-0001-7065-1237, Stram, Daniel O., Beckmann, Lars, Rhie, Suhn Kyong, Ambrosone, Christine B., Aittomaki, Kristiina, Amiano, Pilar, Apicella, Carmel, Baglietto, Laura ORCID: 0000-0002-8193-7529, Bandera, Elisa V., Beckmann, Matthias W., Berg, Christine D., Bernstein, Leslie, Blomqvist, Carl ORCID: 0000-0003-3041-1938, Brauch, Hiltrud ORCID: 0000-0001-7531-2736, Brinton, Louise, Bui, Quang M., Buring, Julie E., Buys, Saundra S., Campa, Daniele ORCID: 0000-0003-3220-9944, Carpenter, Jane E., Chasman, Daniel I., Chang-Claude, Jenny, Chen, Constance, Clavel-Chapelon, Francoise, Cox, Angela ORCID: 0000-0002-5138-1099, Cross, Simon S., Czene, Kamila ORCID: 0000-0002-3233-5695, Deming, Sandra L., Diasio, Robert B., Diver, W. Ryan, Dunning, Alison M., Durcan, Lorraine, Ekici, Arif B., Fasching, Peter A., Feigelson, Heather Spencer, Fejerman, Laura ORCID: 0000-0003-3179-1151, Figueroa, Jonine D., Fletcher, Olivia, Flesch-Janys, Dieter, Gaudet, Mia M., Gerty, Susan M., Rodriguez-Gil, Jorge L., Giles, Graham G., van Gils, Carla H., Godwin, Andrew K., Graham, Nikki, Greco, Dario ORCID: 0000-0001-9195-9003, Hall, Per, Hankinson, Susan E., Hartmann, Arndt, Hein, Rebecca, Heinz, Judith, Hoover, Robert N., Hopper, John L., Hu, Jennifer J., Huntsman, Scott, Ingles, Sue A., Irwanto, Astrid, Isaacs, Claudine, Jacobs, Kevin B., John, Esther M., Justenhoven, Christina, Kaaks, Rudolf, Kolonel, Laurence N., Coetzee, Gerhard A., Lathrop, Mark, Le Marchand, Loic, Lee, Adam M., Lee, I-Min, Lesnick, Timothy, Lichtner, Peter, Liu, Jianjun ORCID: 0000-0002-3255-3019, Lund, Eiliv, Makalic, Enes, Martin, Nicholas G., McLean, Catriona A., Meijers-Heijboer, Hanne, Meindl, Alfons, Miron, Penelope, Monroe, Kristine R., Montgomery, Grant W., Mueller-Myhsok, Bertram, Nickels, Stefan, Nyante, Sarah J., Olswold, Curtis, Overvad, Kim ORCID: 0000-0001-6429-7921, Palli, Domenico, Park, Daniel J., Palmer, Julie R., Pathak, Harsh, Peto, Julian, Pharoah, Paul ORCID: 0000-0001-8494-732X, Rahman, Nazneen ORCID: 0000-0003-4376-0440, Rivadeneira, Fernando ORCID: 0000-0001-9435-9441, Schmidt, Daniel F., Schmutzler, Rita K., Slager, Susan, Southey, Melissa C., Stevens, Kristen N., Sinn, Hans-Peter ORCID: 0000-0003-2836-6699, Press, Michael F., Ross, Eric, Riboli, Elio ORCID: 0000-0001-6795-6080, Ridker, Paul M., Schumacher, Fredrick R., Severi, Gianluca ORCID: 0000-0001-7157-419X, Silva, Isabel dos Santos, Stone, Jennifer ORCID: 0000-0001-5077-0124, Sund, Malin ORCID: 0000-0002-7516-9543, Tapper, William J., Thun, Michael J., Travis, Ruth C., Turnbull, Clare ORCID: 0000-0002-1734-5772, Uitterlinden, Andre G., Waisfisz, Quinten, Wang, Xianshu, Wang, Zhaoming ORCID: 0000-0001-7556-3869, Weaver, JoEllen, Schulz-Wendtland, Ruediger, Wilkens, Lynne R., Van Den Berg, David, Zheng, Wei ORCID: 0000-0003-1226-070X, Ziegler, Regina G., Ziv, Elad, Nevanlinna, Heli ORCID: 0000-0002-0916-2976, Easton, Douglas F., Hunter, David J., Henderson, Brian E., Chanock, Stephen J., Garcia-Closas, Montserrat ORCID: 0000-0003-1033-2650, Kraft, Peter ORCID: 0000-0002-4472-8103, Haiman, Christopher A. and Vachon, Celine M. (2012). A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum. Mol. Genet., 21 (24). S. 5373 - 5385. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Full text not available from this repository.

Abstract

Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P 1 10(-5) in an additional 11 209 breast cancer cases (946 with ER-negative disease) and 16 057 controls of Japanese, Latino and European ancestry. We identified two novel loci for breast cancer at 20q11 and 6q14. SNP rs2284378 at 20q11 was associated with ER-negative breast cancer (combined two-stage OR 1.16; P 1.1 10(8)) but showed a weaker association with overall breast cancer (OR 1.08, P 1.3 10(6)) based on 17 869 cases and 43 745 controls and no association with ER-positive disease (OR 1.01, P 0.67) based on 9965 cases and 22 902 controls. Similarly, rs17530068 at 6q14 was associated with breast cancer (OR 1.12; P 1.1 10(9)), and with both ER-positive (OR 1.09; P 1.5 10(5)) and ER-negative (OR 1.16, P 2.5 10(7)) disease. We also confirmed three known loci associated with ER-negative (19p13) and both ER-negative and ER-positive breast cancer (6q25 and 12p11). Our results highlight the value of large-scale collaborative studies to identify novel breast cancer risk loci.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Siddiq, AfshanUNSPECIFIEDorcid.org/0000-0002-9110-1434UNSPECIFIED
Couch, Fergus J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chen, Gary K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lindstrom, SaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eccles, DianaUNSPECIFIEDorcid.org/0000-0002-9935-3169UNSPECIFIED
Millikan, Robert C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Michailidou, KyriakiUNSPECIFIEDorcid.org/0000-0001-7065-1237UNSPECIFIED
Stram, Daniel O.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beckmann, LarsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rhie, Suhn KyongUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ambrosone, Christine B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Aittomaki, KristiinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Amiano, PilarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Apicella, CarmelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Baglietto, LauraUNSPECIFIEDorcid.org/0000-0002-8193-7529UNSPECIFIED
Bandera, Elisa V.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beckmann, Matthias W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Berg, Christine D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bernstein, LeslieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blomqvist, CarlUNSPECIFIEDorcid.org/0000-0003-3041-1938UNSPECIFIED
Brauch, HiltrudUNSPECIFIEDorcid.org/0000-0001-7531-2736UNSPECIFIED
Brinton, LouiseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bui, Quang M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buring, Julie E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buys, Saundra S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Campa, DanieleUNSPECIFIEDorcid.org/0000-0003-3220-9944UNSPECIFIED
Carpenter, Jane E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chasman, Daniel I.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chang-Claude, JennyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chen, ConstanceUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Clavel-Chapelon, FrancoiseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cox, AngelaUNSPECIFIEDorcid.org/0000-0002-5138-1099UNSPECIFIED
Cross, Simon S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Czene, KamilaUNSPECIFIEDorcid.org/0000-0002-3233-5695UNSPECIFIED
Deming, Sandra L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Diasio, Robert B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Diver, W. RyanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dunning, Alison M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Durcan, LorraineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ekici, Arif B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fasching, Peter A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Feigelson, Heather SpencerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fejerman, LauraUNSPECIFIEDorcid.org/0000-0003-3179-1151UNSPECIFIED
Figueroa, Jonine D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fletcher, OliviaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Flesch-Janys, DieterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gaudet, Mia M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gerty, Susan M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rodriguez-Gil, Jorge L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giles, Graham G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van Gils, Carla H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Godwin, Andrew K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Graham, NikkiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Greco, DarioUNSPECIFIEDorcid.org/0000-0001-9195-9003UNSPECIFIED
Hall, PerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hankinson, Susan E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hartmann, ArndtUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hein, RebeccaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heinz, JudithUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoover, Robert N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hopper, John L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hu, Jennifer J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Huntsman, ScottUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ingles, Sue A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Irwanto, AstridUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Isaacs, ClaudineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jacobs, Kevin B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
John, Esther M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Justenhoven, ChristinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kaaks, RudolfUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kolonel, Laurence N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Coetzee, Gerhard A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lathrop, MarkUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Le Marchand, LoicUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lee, Adam M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lee, I-MinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lesnick, TimothyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lichtner, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Liu, JianjunUNSPECIFIEDorcid.org/0000-0002-3255-3019UNSPECIFIED
Lund, EilivUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Makalic, EnesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Martin, Nicholas G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
McLean, Catriona A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Meijers-Heijboer, HanneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Meindl, AlfonsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Miron, PenelopeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Monroe, Kristine R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Montgomery, Grant W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mueller-Myhsok, BertramUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nickels, StefanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nyante, Sarah J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Olswold, CurtisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Overvad, KimUNSPECIFIEDorcid.org/0000-0001-6429-7921UNSPECIFIED
Palli, DomenicoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Park, Daniel J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Palmer, Julie R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pathak, HarshUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peto, JulianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pharoah, PaulUNSPECIFIEDorcid.org/0000-0001-8494-732XUNSPECIFIED
Rahman, NazneenUNSPECIFIEDorcid.org/0000-0003-4376-0440UNSPECIFIED
Rivadeneira, FernandoUNSPECIFIEDorcid.org/0000-0001-9435-9441UNSPECIFIED
Schmidt, Daniel F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmutzler, Rita K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Slager, SusanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Southey, Melissa C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stevens, Kristen N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sinn, Hans-PeterUNSPECIFIEDorcid.org/0000-0003-2836-6699UNSPECIFIED
Press, Michael F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ross, EricUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Riboli, ElioUNSPECIFIEDorcid.org/0000-0001-6795-6080UNSPECIFIED
Ridker, Paul M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schumacher, Fredrick R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Severi, GianlucaUNSPECIFIEDorcid.org/0000-0001-7157-419XUNSPECIFIED
Silva, Isabel dos SantosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stone, JenniferUNSPECIFIEDorcid.org/0000-0001-5077-0124UNSPECIFIED
Sund, MalinUNSPECIFIEDorcid.org/0000-0002-7516-9543UNSPECIFIED
Tapper, William J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thun, Michael J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Travis, Ruth C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Turnbull, ClareUNSPECIFIEDorcid.org/0000-0002-1734-5772UNSPECIFIED
Uitterlinden, Andre G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Waisfisz, QuintenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wang, XianshuUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wang, ZhaomingUNSPECIFIEDorcid.org/0000-0001-7556-3869UNSPECIFIED
Weaver, JoEllenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schulz-Wendtland, RuedigerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wilkens, Lynne R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Van Den Berg, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zheng, WeiUNSPECIFIEDorcid.org/0000-0003-1226-070XUNSPECIFIED
Ziegler, Regina G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ziv, EladUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nevanlinna, HeliUNSPECIFIEDorcid.org/0000-0002-0916-2976UNSPECIFIED
Easton, Douglas F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hunter, David J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Henderson, Brian E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chanock, Stephen J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garcia-Closas, MontserratUNSPECIFIEDorcid.org/0000-0003-1033-2650UNSPECIFIED
Kraft, PeterUNSPECIFIEDorcid.org/0000-0002-4472-8103UNSPECIFIED
Haiman, Christopher A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vachon, Celine M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-476655
DOI: 10.1093/hmg/dds381
Journal or Publication Title: Hum. Mol. Genet.
Volume: 21
Number: 24
Page Range: S. 5373 - 5385
Date: 2012
Publisher: OXFORD UNIV PRESS
Place of Publication: OXFORD
ISSN: 1460-2083
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
BRCA1 MUTATION CARRIERS; TUMOR SUBTYPES; RISK; MELANOMAMultiple languages
Biochemistry & Molecular Biology; Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/47665

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