Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

被引：79

作者：

Couch, Fergus J. ^{[1
,2
]}

Kuchenbaecker, Karoline B. ^{[3
]}

Michailidou, Kyriaki ^{[3
]}

Mendoza-Fandino, Gustavo A. ^{[4
]}

Nord, Silje ^{[5
]}

Lilyquist, Janna ^{[2
]}

Olswold, Curtis ^{[2
]}

Hallberg, Emily ^{[2
]}

Agata, Simona ^{[6
]}

Ahsan, Habibul ^{[7
,8
,9
]}

Aittomaeki, Kristiina ^{[10
]}

Ambrosone, Christine ^{[11
]}

Andrulis, Irene L. ^{[12
,13
,14
]}

Anton-Culver, Hoda ^{[15
]}

Arndt, Volker ^{[16
]}

Arun, Banu K. ^{[17
]}

Arver, Brita ^{[18
]}

Barile, Monica ^{[19
]}

Barkardottir, Rosa B. ^{[20
,21
]}

Barrowdale, Daniel ^{[3
]}

Beckmann, Lars ^{[22
]}

Beckmann, Matthias W. ^{[23
]}

Benitez, Javier ^{[24
,25
,26
]}

Blank, Stephanie V. ^{[27
]}

Blomqvist, Carl ^{[28
,29
]}

Bogdanova, Natalia V. ^{[30
]}

Bojesen, Stig E. ^{[31
]}

Bolla, Manjeet K. ^{[3
]}

Bonanni, Bernardo ^{[19
]}

Brauch, Hiltrud ^{[32
,33
]}

Brenner, Hermann ^{[16
,34
,35
]}

Burwinkel, Barbara ^{[36
]}

Buys, Saundra S. ^{[37
]}

Caldes, Trinidad ^{[38
]}

Caligo, Maria A. ^{[39
,40
]}

Canzian, Federico ^{[41
]}

Carpenter, Jane ^{[42
]}

Chang-Claude, Jenny ^{[43
]}

Chanock, Stephen J. ^{[44
]}

Chung, Wendy K. ^{[45
,46
]}

Claes, Kathleen B. M. ^{[47
]}

Cox, Angela ^{[48
]}

Cross, Simon S. ^{[49
]}

Cunningham, Julie M. ^{[1
]}

Czene, Kamila ^{[50
]}

Daly, Mary B. ^{[51
]}

Damiola, Francesca ^{[52
]}

Darabi, Hatef ^{[50
]}

de la Hoya, Miguel ^{[38
]}

Devilee, Peter ^{[53
]}

机构：

[1] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA

[2] Mayo Clin, Dept Hlth Sci Res, Rochester, MN 55905 USA

[3] Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge CB1 8RN, England

[4] Univ S Florida, Coll Med, H Lee Moffitt Canc Ctr & Res Inst, Canc Epidemiol Program, Tampa, FL 33612 USA

[5] Radiumhosp, Oslo Univ Hosp, Inst Canc Res, Dept Genet, N-0310 Oslo, Norway

[6] IRCCS, IOV, Immunol & Mol Oncol Unit, I-20133 Padua, Italy

[7] Univ Chicago, Dept Hlth Studies, Chicago, IL 60637 USA

[8] Univ Chicago, Ctr Comprehens Canc, Chicago, IL 60637 USA

[9] Univ Chicago, Dept Med & Human Genet, Chicago, IL 60637 USA

[10] Univ Helsinki, Cent Hosp, Dept Clin Genet, Helsinki 00029, Finland

[11] Roswell Pk Canc Inst, Dept Canc Prevent & Control, Buffalo, NY 14263 USA

[12] Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada

[13] Univ Toronto, Dept Mol Genet, Toronto, ON M5B 1W8, Canada

[14] Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON M5B 1W8, Canada

[15] Univ Calif Irvine, Dept Epidemiol, Irvine, CA 92697 USA

[16] German Canc Res Ctr, Div Clin Epidemiol & Aging Res, D-69120 Heidelberg, Germany

[17] Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA

[18] Karolinska Univ Hosp, Dept Oncol, SE-17176 Stockholm, Sweden

[19] Ist Europeo Oncol, Div Canc Prevent & Genet, I-20141 Milan, Italy

[20] Landspitali Univ Hosp, Dept Pathol, IS-101 Reykjavik, Iceland

[21] Univ Iceland, Sch Med, IS-101 Reykjavik, Iceland

[22] Inst Qual & Efficiency Hlth Care IQWiG, D-50670 Cologne, Germany

[23] Univ Erlangen Nurnberg, Comprehens Canc Ctr Erlangen EMN, Univ Breast Ctr Franconia, Dept Gynecol & Obstet,Univ Hosp Erlangen, D-91054 Erlangen, Germany

[24] Spanish Natl Canc Ctr CNIO, Human Genet Grp, Human Canc Genet Program, Madrid 28029, Spain

[25] Spanish Natl Canc Ctr CNIO, Human Canc Genet Program, Genotyping Unit CeGen, Madrid 28029, Spain

[26] Biomed Network Rare Dis CIBERER, Madrid 28029, Spain

[27] NYU, Sch Med, NYU Womens Canc Program, New York, NY 10016 USA

[28] Univ Helsinki, Dept Oncol, FI-00029 Helsinki, Finland

[29] Univ Helsinki, Cent Hosp, FI-00029 Helsinki, Finland

[30] Hannover Med Sch, Dept Radiat Oncol, D-30625 Hannover, Germany

[31] Copenhagen Univ Hosp, Herlev Hosp, Copenhagen Gen Populat Study, DK-2730 Herlev, Denmark

[32] Dr Margarete Fischer Bosch Inst Clin Pharmacol, D-70376 Stuttgart, Germany

[33] Univ Tubingen, D-72074 Tubingen, Germany

[34] German Canc Res Ctr, Div Prevent Oncol, D-69120 Heidelberg, Germany

[35] Natl Ctr Tumor Dis NCT, D-69120 Heidelberg, Germany

[36] Heidelberg Univ, Dept Obstet & Gynecol, D-69120 Heidelberg, Germany

[37] Univ Utah, Sch Med, Dept Med, Huntsman Canc Inst, Salt Lake City, UT 84112 USA

[38] IdISSC, Hosp Clin San Carlos, Mol Oncol Lab, Madrid 28040, Spain

[39] Univ Pisa, Dept Lab Med, Sect Genet Oncol, I-56126 Pisa, Italy

[40] Univ Hosp Pisa, I-56126 Pisa, Italy

[41] German Canc Res Ctr, Genom Epidemiol Grp, D-69120 Heidelberg, Germany

[42] Univ Sydney, Westmead Millennium Inst, Australian Breast Canc Tissue Bank, Sydney, NSW 2145, Australia

[43] German Canc Res Ctr, Div Canc Epidemiol, D-69120 Heidelberg, Germany

[44] NCI, Div Canc Epidemiol & Genet, Rockville, MD 20850 USA

[45] Columbia Univ, Dept Pediat, New York, NY 10032 USA

[46] Columbia Univ, Dept Med, New York, NY 10032 USA

[47] Univ Ghent, Ctr Med Genet, B-9000 Ghent, Belgium

[48] Univ Sheffield, Dept Oncol, Sheffield Canc Res Ctr, Sheffield S10 2RX, S Yorkshire, England

[49] Univ Sheffield, Acad Unit Pathol, Dept Neurosci, Sheffield S10 2HQ, S Yorkshire, England

[50] Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17177 Stockholm, Sweden

来源：

NATURE COMMUNICATIONS | 2016年 / 7卷

基金：

美国国家卫生研究院; 加拿大健康研究院;

关键词：

GENOME-WIDE ASSOCIATION; BRCA2 MUTATION CARRIERS; GENE-EXPRESSION; COMMON VARIANTS; TELOMERE LENGTH; RISK; IDENTIFY; INVESTIGATORS; METAANALYSIS; CONSORTIUM;

D O I：

10.1038/ncomms11375

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.

引用

页数：13

共 48 条

[1] Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2 [J].

Ahmed, Shahana ;

Thomas, Gilles ;

Ghoussaini, Maya ;

Healey, Catherine S. ;

Humphreys, Manjeet K. ;

Platte, Radka ;

Morrison, Jonathan ;

Maranian, Melanie ;

Pooley, Karen A. ;

Luben, Robert ;

Eccles, Diana ;

Evans, D. Gareth ;

Fletcher, Olivia ;

Johnson, Nichola ;

Silva, Isabel dos Santos ;

Peto, Julian ;

Stratton, Michael R. ;

Rahman, Nazneen ;

Jacobs, Kevin ;

Prentice, Ross ;

Anderson, Garnet L. ;

Rajkovic, Aleksandar ;

Curb, J. David ;

Ziegler, Regina G. ;

Berg, Christine D. ;

Buys, Saundra S. ;

McCarty, Catherine A. ;

Feigelson, Heather Spencer ;

Calle, Eugenia E. ;

Thun, Michael J. ;

Diver, W. Ryan ;

Bojesen, Stig ;

Nordestgaard, Borge G. ;

Flyger, Henrik ;

Doerk, Thilo ;

Schuermann, Peter ;

Hillemanns, Peter ;

Karstens, Johann H. ;

Bogdanova, Natalia V. ;

Antonenkova, Natalia N. ;

Zalutsky, Iosif V. ;

Bermisheva, Marina ;

Fedorova, Sardana ;

Khusnutdinova, Elza ;

Kang, Daehee ;

Yoo, Keun-Young ;

Noh, Dong Young ;

Ahn, Sei-Hyun ;

Devilee, Peter ;

van Asperen, Christi J. .

NATURE GENETICS, 2009, 41 (05) :585-590

[2] A Genome-wide Association Study of Early-Onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age [J].

Ahsan, Habibul ;

Halpern, Jerry ;

Kibriya, Muhammad G. ;

Pierce, Brandon L. ;

Tong, Lin ;

Gamazon, Eric ;

McGuire, Valerie ;

Felberg, Anna ;

Shi, Jianxin ;

Jasmine, Farzana ;

Roy, Shantanu ;

Brutus, Rachelle ;

Argos, Maria ;

Melkonian, Stephanie ;

Chang-Claude, Jenny ;

Andrulis, Irene ;

Hopper, John L. ;

John, Esther M. ;

Malone, Kathi ;

Ursin, Giske ;

Gammon, Marilie D. ;

Thomas, Duncan C. ;

Seminara, Daniela ;

Casey, Graham ;

Knight, Julia A. ;

Southey, Melissa C. ;

Giles, Graham G. ;

Santella, Regina M. ;

Lee, Eunjung ;

Conti, David ;

Duggan, David ;

Gallinger, Steve ;

Haile, Robert ;

Jenkins, Mark ;

Lindor, Noralane M. ;

Newcomb, Polly ;

Michailidou, Kyriaki ;

Apicella, Carmel ;

Park, Daniel J. ;

Peto, Julian ;

Fletcher, Olivia ;

Silva, Isabel dos Santos ;

Lathrop, Mark ;

Hunter, David J. ;

Chanock, Stephen J. ;

Meindl, Alfons ;

Schmutzler, Rita K. ;

Mueller-Myhsok, Bertram ;

Lochmann, Magdalena ;

Beckmann, Lars .

CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 2014, 23 (04) :658-669

[3] An integrated map of genetic variation from 1,092 human genomes [J].

Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Schmidt, Jeanette P. ;

Sherry, Stephen T. ;

Wang, Jun ;

Wilson, Richard K. ;

Gibbs, Richard A. ;

Dinh, Huyen ;

Kovar, Christie ;

Lee, Sandra ;

Lewis, Lora ;

Muzny, Donna ;

Reid, Jeff ;

Wang, Min ;

Wang, Jun ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Li, Zhuo ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

Su, Zhe ;

Tai, Shuaishuai ;

Tang, Meifang .

NATURE, 2012, 491 (7422) :56-65

[4] Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers [J].

Antoniou, Antonis C. ;

Kuchenbaecker, Karoline B. ;

Soucy, Penny ;

Beesley, Jonathan ;

Chen, Xiaoqing ;

McGuffog, Lesley ;

Lee, Andrew ;

Barrowdale, Daniel ;

Healey, Sue ;

Sinilnikova, Olga M. ;

Caligo, Maria A. ;

Loman, Niklas ;

Harbst, Katja ;

Lindblom, Annika ;

Arver, Brita ;

Rosenquist, Richard ;

Karlsson, Per ;

Nathanson, Kate ;

Domchek, Susan ;

Rebbeck, Tim ;

Jakubowska, Anna ;

Lubinski, Jan ;

Jaworska, Katarzyna ;

Durda, Katarzyna ;

Zlowowcka-Perlowska, Elzbieta ;

Osorio, Ana ;

Duran, Mercedes ;

Andres, Raquel ;

Benitez, Javier ;

Hamann, Ute ;

Hogervorst, Frans B. ;

van Os, Theo A. ;

Verhoef, Senno ;

Meijers-Heijboer, Hanne E. J. ;

Wijnen, Juul ;

Garcia, Encarna B. Gomez ;

Ligtenberg, Marjolijn J. ;

Kriege, Mieke ;

Collee, Margriet ;

Ausems, Margreet G. E. M. ;

Oosterwijk, Jan C. ;

Peock, Susan ;

Frost, Debra ;

Ellis, Steve D. ;

Platte, Radka ;

Fineberg, Elena ;

Evans, D. Gareth ;

Lalloo, Fiona ;

Jacobs, Chris ;

Eeles, Ros .

BREAST CANCER RESEARCH, 2012, 14 (01)

[5] A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population [J].

Antoniou, Antonis C. ;

Wang, Xianshu ;

Fredericksen, Zachary S. ;

McGuffog, Lesley ;

Tarrell, Robert ;

Sinilnikova, Olga M. ;

Healey, Sue ;

Morrison, Jonathan ;

Kartsonaki, Christiana ;

Lesnick, Timothy ;

Ghoussaini, Maya ;

Barrowdale, Daniel ;

Peock, Susan ;

Cook, Margaret ;

Oliver, Clare ;

Frost, Debra ;

Eccles, Diana ;

Evans, D. Gareth ;

Eeles, Ros ;

Izatt, Louise ;

Chu, Carol ;

Douglas, Fiona ;

Paterson, Joan ;

Stoppa-Lyonnet, Dominique ;

Houdayer, Claude ;

Mazoyer, Sylvie ;

Giraud, Sophie ;

Lasset, Christine ;

Remenieras, Audrey ;

Caron, Olivier ;

Hardouin, Agnes ;

Berthet, Pascaline ;

Hogervorst, Frans B. L. ;

Rookus, Matti A. ;

Jager, Agnes ;

van den Ouweland, Ans ;

Hoogerbrugge, Nicoline ;

van der Luijt, Rob B. ;

Meijers-Heijboer, Hanne ;

Garcia, Encarna B. Gomez ;

Devilee, Peter ;

Vreeswijk, Maaike P. G. ;

Lubinski, Jan ;

Jakubowska, Anna ;

Gronwald, Jacek ;

Huzarski, Tomasz ;

Byrski, Tomasz ;

Gorski, Bohdan ;

Cybulski, Cezary ;

Spurdle, Amanda B. .

NATURE GENETICS, 2010, 42 (10) :885-+

[6] GenABEL: an R library for genome-wide association analysis [J].

Aulchenko, Yurii S. ;

Ripke, Stephan ;

Isaacs, Aaron ;

Van Duijn, Cornelia M. .

BIOINFORMATICS, 2007, 23 (10) :1294-1296

[7] Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer [J].

Bojesen, Stig E. ;

Pooley, Karen A. ;

Johnatty, Sharon E. ;

Beesley, Jonathan ;

Michailidou, Kyriaki ;

Tyrer, Jonathan P. ;

Edwards, Stacey L. ;

Pickett, Hilda A. ;

Shen, Howard C. ;

Smart, Chanel E. ;

Hillman, Kristine M. ;

Mai, Phuong L. ;

Lawrenson, Kate ;

Stutz, Michael D. ;

Lu, Yi ;

Karevan, Rod ;

Woods, Nicholas ;

Johnston, Rebecca L. ;

French, Juliet D. ;

Chen, Xiaoqing ;

Weischer, Maren ;

Nielsen, Sune F. ;

Maranian, Melanie J. ;

Ghoussaini, Maya ;

Ahmed, Shahana ;

Baynes, Caroline ;

Bolla, Manjeet K. ;

Wang, Qin ;

Dennis, Joe ;

McGuffog, Lesley ;

Barrowdale, Daniel ;

Lee, Andrew ;

Healey, Sue ;

Lush, Michael ;

Tessier, Daniel C. ;

Vincent, Daniel ;

Bacot, Francis ;

Vergote, Ignace ;

Lambrechts, Sandrina ;

Despierre, Evelyn ;

Risch, Harvey A. ;

Gonzalez-Neira, Anna ;

Rossing, Mary Anne ;

Pita, Guillermo ;

Doherty, Jennifer A. ;

Alvarez, Nuria ;

Larson, Melissa C. ;

Fridley, Brooke L. ;

Schoof, Nils ;

Chang-Claude, Jenny .

NATURE GENETICS, 2013, 45 (04) :371-384

[8] Defining a common region of deletion at 13q21 in human cancers [J].

Chen, CS ;

Brabham, WW ;

Stultz, BG ;

Frierson, HF ;

Barrett, JC ;

Sawyers, CL ;

Isaacs, JT ;

Dong, JT .

GENES CHROMOSOMES & CANCER, 2001, 31 (04) :333-344

[9] An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers:: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2(CIMBA) [J].

Chenevix-Trench, Georgia ;

Milne, Roger L. ;

Antoniou, Antonis C. ;

Couch, Fergus J. ;

Easton, Douglas F. ;

Goldgar, David E. .

BREAST CANCER RESEARCH, 2007, 9 (02)

[10] Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer [J].

Childs, Erica J. ;

Mocci, Evelina ;

Campa, Daniele ;

Bracci, Paige M. ;

Gallinger, Steven ;

Goggins, Michael ;

Li, Donghui ;

Neale, Rachel E. ;

Olson, Sara H. ;

Scelo, Ghislaine ;

Amundadottir, Laufey T. ;

Bamlet, William R. ;

Bijlsma, Maarten F. ;

Blackford, Amanda ;

Borges, Michael ;

Brennan, Paul ;

Brenner, Hermann ;

Bueno-de-Mesquita, H. Bas ;

Canzian, Federico ;

Capurso, Gabriele ;

Cavestro, Giulia M. ;

Chaffee, Kari G. ;

Chanock, Stephen J. ;

Cleary, Sean P. ;

Cotterchio, Michelle ;

Foretova, Lenka ;

Fuchs, Charles ;

Funel, Niccola ;

Gazouli, Maria ;

Hassan, Manal ;

Herman, Joseph M. ;

Holcatova, Ivana ;

Holly, Elizabeth A. ;

Hoover, Robert N. ;

Hung, Rayjean J. ;

Janout, Vladimir ;

Key, Timothy J. ;

Kupcinskas, Juozas ;

Kurtz, Robert C. ;

Landi, Stefano ;

Lu, Lingeng ;

Malecka-Panas, Ewa ;

Mambrini, Andrea ;

Mohelnikova-Duchonova, Beatrice ;

Neoptolemos, John P. ;

Oberg, Ann L. ;

Orlow, Irene ;

Pasquali, Claudio ;

Pezzilli, Raffaele ;

Rizzato, Cosmeri .

NATURE GENETICS, 2015, 47 (08) :911-+

← 1 2 3 4 5 →

共 48 条

[1] Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2 [J].

Ahmed, Shahana ;

Thomas, Gilles ;

Ghoussaini, Maya ;

Healey, Catherine S. ;

Humphreys, Manjeet K. ;

Platte, Radka ;

Morrison, Jonathan ;

Maranian, Melanie ;

Pooley, Karen A. ;

Luben, Robert ;

Eccles, Diana ;

Evans, D. Gareth ;

Fletcher, Olivia ;

Johnson, Nichola ;

Silva, Isabel dos Santos ;

Peto, Julian ;

Stratton, Michael R. ;

Rahman, Nazneen ;

Jacobs, Kevin ;

Prentice, Ross ;

Anderson, Garnet L. ;

Rajkovic, Aleksandar ;

Curb, J. David ;

Ziegler, Regina G. ;

Berg, Christine D. ;

Buys, Saundra S. ;

McCarty, Catherine A. ;

Feigelson, Heather Spencer ;

Calle, Eugenia E. ;

Thun, Michael J. ;

Diver, W. Ryan ;

Bojesen, Stig ;

Nordestgaard, Borge G. ;

Flyger, Henrik ;

Doerk, Thilo ;

Schuermann, Peter ;

Hillemanns, Peter ;

Karstens, Johann H. ;

Bogdanova, Natalia V. ;

Antonenkova, Natalia N. ;

Zalutsky, Iosif V. ;

Bermisheva, Marina ;

Fedorova, Sardana ;

Khusnutdinova, Elza ;

Kang, Daehee ;

Yoo, Keun-Young ;

Noh, Dong Young ;

Ahn, Sei-Hyun ;

Devilee, Peter ;

van Asperen, Christi J. .

NATURE GENETICS, 2009, 41 (05) :585-590

[2] A Genome-wide Association Study of Early-Onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age [J].

Ahsan, Habibul ;

Halpern, Jerry ;

Kibriya, Muhammad G. ;

Pierce, Brandon L. ;

Tong, Lin ;

Gamazon, Eric ;

McGuire, Valerie ;

Felberg, Anna ;

Shi, Jianxin ;

Jasmine, Farzana ;

Roy, Shantanu ;

Brutus, Rachelle ;

Argos, Maria ;

Melkonian, Stephanie ;

Chang-Claude, Jenny ;

Andrulis, Irene ;

Hopper, John L. ;

John, Esther M. ;

Malone, Kathi ;

Ursin, Giske ;

Gammon, Marilie D. ;

Thomas, Duncan C. ;

Seminara, Daniela ;

Casey, Graham ;

Knight, Julia A. ;

Southey, Melissa C. ;

Giles, Graham G. ;

Santella, Regina M. ;

Lee, Eunjung ;

Conti, David ;

Duggan, David ;

Gallinger, Steve ;

Haile, Robert ;

Jenkins, Mark ;

Lindor, Noralane M. ;

Newcomb, Polly ;

Michailidou, Kyriaki ;

Apicella, Carmel ;

Park, Daniel J. ;

Peto, Julian ;

Fletcher, Olivia ;

Silva, Isabel dos Santos ;

Lathrop, Mark ;

Hunter, David J. ;

Chanock, Stephen J. ;

Meindl, Alfons ;

Schmutzler, Rita K. ;

Mueller-Myhsok, Bertram ;

Lochmann, Magdalena ;

Beckmann, Lars .

CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 2014, 23 (04) :658-669

[3] An integrated map of genetic variation from 1,092 human genomes [J].

Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Schmidt, Jeanette P. ;

Sherry, Stephen T. ;

Wang, Jun ;

Wilson, Richard K. ;

Gibbs, Richard A. ;

Dinh, Huyen ;

Kovar, Christie ;

Lee, Sandra ;

Lewis, Lora ;

Muzny, Donna ;

Reid, Jeff ;

Wang, Min ;

Wang, Jun ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Li, Zhuo ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

Su, Zhe ;

Tai, Shuaishuai ;

Tang, Meifang .

NATURE, 2012, 491 (7422) :56-65

[4] Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers [J].

Antoniou, Antonis C. ;

Kuchenbaecker, Karoline B. ;

Soucy, Penny ;

Beesley, Jonathan ;

Chen, Xiaoqing ;

McGuffog, Lesley ;

Lee, Andrew ;

Barrowdale, Daniel ;

Healey, Sue ;

Sinilnikova, Olga M. ;

Caligo, Maria A. ;

Loman, Niklas ;

Harbst, Katja ;

Lindblom, Annika ;

Arver, Brita ;

Rosenquist, Richard ;

Karlsson, Per ;

Nathanson, Kate ;

Domchek, Susan ;

Rebbeck, Tim ;

Jakubowska, Anna ;

Lubinski, Jan ;

Jaworska, Katarzyna ;

Durda, Katarzyna ;

Zlowowcka-Perlowska, Elzbieta ;

Osorio, Ana ;

Duran, Mercedes ;

Andres, Raquel ;

Benitez, Javier ;

Hamann, Ute ;

Hogervorst, Frans B. ;

van Os, Theo A. ;

Verhoef, Senno ;

Meijers-Heijboer, Hanne E. J. ;

Wijnen, Juul ;

Garcia, Encarna B. Gomez ;

Ligtenberg, Marjolijn J. ;

Kriege, Mieke ;

Collee, Margriet ;

Ausems, Margreet G. E. M. ;

Oosterwijk, Jan C. ;

Peock, Susan ;

Frost, Debra ;

Ellis, Steve D. ;

Platte, Radka ;

Fineberg, Elena ;

Evans, D. Gareth ;

Lalloo, Fiona ;

Jacobs, Chris ;

Eeles, Ros .

BREAST CANCER RESEARCH, 2012, 14 (01)

[5] A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population [J].

Antoniou, Antonis C. ;

Wang, Xianshu ;

Fredericksen, Zachary S. ;

McGuffog, Lesley ;

Tarrell, Robert ;

Sinilnikova, Olga M. ;

Healey, Sue ;

Morrison, Jonathan ;

Kartsonaki, Christiana ;

Lesnick, Timothy ;

Ghoussaini, Maya ;

Barrowdale, Daniel ;

Peock, Susan ;

Cook, Margaret ;

Oliver, Clare ;

Frost, Debra ;

Eccles, Diana ;

Evans, D. Gareth ;

Eeles, Ros ;

Izatt, Louise ;

Chu, Carol ;

Douglas, Fiona ;

Paterson, Joan ;

Stoppa-Lyonnet, Dominique ;

Houdayer, Claude ;

Mazoyer, Sylvie ;

Giraud, Sophie ;

Lasset, Christine ;

Remenieras, Audrey ;

Caron, Olivier ;

Hardouin, Agnes ;

Berthet, Pascaline ;

Hogervorst, Frans B. L. ;

Rookus, Matti A. ;

Jager, Agnes ;

van den Ouweland, Ans ;

Hoogerbrugge, Nicoline ;

van der Luijt, Rob B. ;

Meijers-Heijboer, Hanne ;

Garcia, Encarna B. Gomez ;

Devilee, Peter ;

Vreeswijk, Maaike P. G. ;

Lubinski, Jan ;

Jakubowska, Anna ;

Gronwald, Jacek ;

Huzarski, Tomasz ;

Byrski, Tomasz ;

Gorski, Bohdan ;

Cybulski, Cezary ;

Spurdle, Amanda B. .

NATURE GENETICS, 2010, 42 (10) :885-+

[6] GenABEL: an R library for genome-wide association analysis [J].

Aulchenko, Yurii S. ;

Ripke, Stephan ;

Isaacs, Aaron ;

Van Duijn, Cornelia M. .

BIOINFORMATICS, 2007, 23 (10) :1294-1296

[7] Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer [J].

Bojesen, Stig E. ;

Pooley, Karen A. ;

Johnatty, Sharon E. ;

Beesley, Jonathan ;

Michailidou, Kyriaki ;

Tyrer, Jonathan P. ;

Edwards, Stacey L. ;

Pickett, Hilda A. ;

Shen, Howard C. ;

Smart, Chanel E. ;

Hillman, Kristine M. ;

Mai, Phuong L. ;

Lawrenson, Kate ;

Stutz, Michael D. ;

Lu, Yi ;

Karevan, Rod ;

Woods, Nicholas ;

Johnston, Rebecca L. ;

French, Juliet D. ;

Chen, Xiaoqing ;

Weischer, Maren ;

Nielsen, Sune F. ;

Maranian, Melanie J. ;

Ghoussaini, Maya ;

Ahmed, Shahana ;

Baynes, Caroline ;

Bolla, Manjeet K. ;

Wang, Qin ;

Dennis, Joe ;

McGuffog, Lesley ;

Barrowdale, Daniel ;

Lee, Andrew ;

Healey, Sue ;

Lush, Michael ;

Tessier, Daniel C. ;

Vincent, Daniel ;

Bacot, Francis ;

Vergote, Ignace ;

Lambrechts, Sandrina ;

Despierre, Evelyn ;

Risch, Harvey A. ;

Gonzalez-Neira, Anna ;

Rossing, Mary Anne ;

Pita, Guillermo ;

Doherty, Jennifer A. ;

Alvarez, Nuria ;

Larson, Melissa C. ;

Fridley, Brooke L. ;

Schoof, Nils ;

Chang-Claude, Jenny .

NATURE GENETICS, 2013, 45 (04) :371-384

[8] Defining a common region of deletion at 13q21 in human cancers [J].

Chen, CS ;

Brabham, WW ;

Stultz, BG ;

Frierson, HF ;

Barrett, JC ;

Sawyers, CL ;

Isaacs, JT ;

Dong, JT .

GENES CHROMOSOMES & CANCER, 2001, 31 (04) :333-344

[9] An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers:: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2(CIMBA) [J].

Chenevix-Trench, Georgia ;

Milne, Roger L. ;

Antoniou, Antonis C. ;

Couch, Fergus J. ;

Easton, Douglas F. ;

Goldgar, David E. .

BREAST CANCER RESEARCH, 2007, 9 (02)

[10] Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer [J].

Childs, Erica J. ;

Mocci, Evelina ;

Campa, Daniele ;

Bracci, Paige M. ;

Gallinger, Steven ;

Goggins, Michael ;

Li, Donghui ;

Neale, Rachel E. ;

Olson, Sara H. ;

Scelo, Ghislaine ;

Amundadottir, Laufey T. ;

Bamlet, William R. ;

Bijlsma, Maarten F. ;

Blackford, Amanda ;

Borges, Michael ;

Brennan, Paul ;

Brenner, Hermann ;

Bueno-de-Mesquita, H. Bas ;

Canzian, Federico ;

Capurso, Gabriele ;

Cavestro, Giulia M. ;

Chaffee, Kari G. ;

Chanock, Stephen J. ;

Cleary, Sean P. ;

Cotterchio, Michelle ;

Foretova, Lenka ;

Fuchs, Charles ;

Funel, Niccola ;

Gazouli, Maria ;

Hassan, Manal ;

Herman, Joseph M. ;

Holcatova, Ivana ;

Holly, Elizabeth A. ;

Hoover, Robert N. ;

Hung, Rayjean J. ;

Janout, Vladimir ;

Key, Timothy J. ;

Kupcinskas, Juozas ;

Kurtz, Robert C. ;

Landi, Stefano ;

Lu, Lingeng ;

Malecka-Panas, Ewa ;

Mambrini, Andrea ;

Mohelnikova-Duchonova, Beatrice ;

Neoptolemos, John P. ;

Oberg, Ann L. ;

Orlow, Irene ;

Pasquali, Claudio ;

Pezzilli, Raffaele ;

Rizzato, Cosmeri .

NATURE GENETICS, 2015, 47 (08) :911-+

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