Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

被引：92

作者：

Gaudet, Mia M. ^{[1
]}

Kuchenbaecker, Karoline B. ^{[2
]}

Vijai, Joseph ^{[3
]}

Klein, Robert J. ^{[4
]}

Kirchhoff, Tomas ^{[5
]}

McGuffog, Lesley ^{[2
]}

Barrowdale, Daniel ^{[2
]}

Dunning, Alison M. ^{[6
]}

Lee, Andrew ^{[2
]}

Dennis, Joe ^{[2
]}

Healey, Sue ^{[7
]}

Dicks, Ed ^{[2
]}

Soucy, Penny ^{[8
,9
]}

Sinilnikova, Olga M. ^{[10
,11
]}

Pankratz, Vernon S. ^{[12
]}

Wang, Xianshu ^{[13
]}

Eldridge, Ronald C. ^{[14
]}

Tessier, Daniel C. ^{[15
,16
]}

Vincent, Daniel ^{[15
,16
]}

Bacot, Francois ^{[15
,16
]}

Hogervorst, Frans B. L. ^{[17
]}

Peock, Susan ^{[2
]}

Stoppa-Lyonnet, Dominique ^{[18
,19
,20
]}

Peterlongo, Paolo ^{[22
,23
]}

Schmutzler, Rita K. ^{[24
]}

Nathanson, Katherine L. ^{[25
,26
]}

Piedmonte, Marion ^{[27
]}

Singer, Christian F. ^{[28
,29
]}

Thomassen, Mads ^{[30
]}

Hansen, Thomas V. O. ^{[32
]}

Neuhausen, Susan L. ^{[33
]}

Blanco, Ignacio ^{[34
]}

Greene, Mark H. ^{[35
]}

Garber, Judith ^{[36
]}

Weitzel, Jeffrey N. ^{[37
]}

Andrulis, Irene L. ^{[38
,39
]}

Goldgar, David E. ^{[40
]}

D'Andrea, Emma ^{[41
,42
]}

Caldes, Trinidad ^{[43
]}

Nevanlinna, Heli ^{[44
,45
]}

Osorio, Ana ^{[46
,47
]}

van Rensburg, Elizabeth J. ^{[48
]}

Arason, Adalgeir ^{[49
,50
]}

Rennert, Gad ^{[51
,52
,53
]}

van den Ouweland, Ans M. W. ^{[54
]}

van der Hout, Annemarie H. ^{[55
]}

Kets, Carolien M. ^{[56
]}

Aalfs, Cora M. ^{[57
]}

Wijnen, Juul T. ^{[58
,59
]}

Ausems, Margreet G. E. M. ^{[60
]}

机构：

[1] Amer Canc Soc, Epidemiol Res Program, Atlanta, GA 30329 USA

[2] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge, England

[3] Mem Sloan Kettering Canc Ctr, Clin Genet Serv, New York, NY 10021 USA

[4] Mem Sloan Kettering Canc Ctr, Program Canc Biol & Genet, New York, NY 10021 USA

[5] NYU, Dept Environm Med, Div Epidemiol, Sch Med, New York, NY 10016 USA

[6] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Oncol, Cambridge, England

[7] Queensland Inst Med Res, Genet & Populat Hlth Div, Brisbane, Qld 4006, Australia

[8] Ctr Hosp Univ Quebec, Canc Genom Lab, Quebec City, PQ, Canada

[9] Univ Laval, Quebec City, PQ, Canada

[10] Hosp Civils Lyon, Unite Mixte Genet Constitut Canc Frequents, Ctr Leon Berard, Lyon, France

[11] Univ Lyon 1, INSERM,U1052, CNRS UMR5286, Ctr Rech Cancerol Lyon, F-69365 Lyon, France

[12] Mayo Clin, Dept Hlth Sci, Rochester, MN USA

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

[14] Emory Univ, Dept Epidemiol, Rollins Sch Publ Hlth, Atlanta, GA 30322 USA

[15] Ctr Innovat Genome Quebec, Montreal, PQ, Canada

[16] McGill Univ, Montreal, PQ, Canada

[17] Netherlands Canc Inst, Family Canc Clin, Amsterdam, Netherlands

[18] Inst Curie, Dept Tumour Biol, Paris, France

[19] Inst Curie, INSERM U830, Paris, France

[20] Univ Paris 05, Sorbonne Paris Cite, Paris, France

[21] Peter MacCallum Canc Ctr, Kathleen Cuningham Consortium Res Familial Breast, Melbourne, Vic, Australia

[22] Fdn IRCCS Ist Nazl Tumori, Unit Mol Bases Genet Risk & Genet Testing, Dept Prevent & Predict Med, Milan, Italy

[23] Fdn Ist FIRC Oncol Mol, IFOM, Milan, Italy

[24] Univ Hosp Cologne, Cologne, Germany

[25] Univ Penn, Sch Med, Abramson Canc Ctr, Philadelphia, PA 19104 USA

[26] Univ Penn, Sch Med, Dept Med, Philadelphia, PA 19104 USA

[27] Roswell Pk Canc Inst, Gynecol Oncol Grp, Stat & Data Ctr, Buffalo, NY 14263 USA

[28] Med Univ Vienna, Dept Obstet & Gyncol, Vienna, Austria

[29] Med Univ Vienna, Ctr Comprehens Canc, Vienna, Austria

[30] Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense, Denmark

[31] Mt Sinai Hosp, Samuel Lunenfeld Res Inst, Toronto, ON M5G 1X5, Canada

[32] Copenhagen Univ Hosp, Ctr Genom Med, Rigshosp, Copenhagen, Denmark

[33] City Hope Natl Med Ctr, Dept Populat Sci, Beckman Res Inst, Duarte, CA USA

[34] IDIBELL Catalan Inst Oncol, Genet Counseling Unit, Hereditary Canc Program, Barcelona, Spain

[35] NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Rockville, MD USA

[36] Dana Farber Partners CancerCare, Dept Med Oncol, Boston, MA USA

[37] City Hope Natl Med Ctr, Clin Canc Genet, City Hope Clin Canc Genet Community Res Network, Duarte, CA USA

[38] Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A1, Canada

[39] Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON M5S 1A1, Canada

[40] Univ Utah, Sch Med, Dept Dermatol, Salt Lake City, UT USA

[41] Univ Padua, Dept Surg Oncol & Gastroenterol, Padua, Italy

[42] Ist Oncolog Veneto IOV IRCCS, Immunol & Mol Oncol Unit, Padua, Italy

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

[44] Univ Helsinki, Dept Obstet & Gynecol, Helsinki, Finland

[45] Univ Helsinki, Cent Hosp, Helsinki, Finland

[46] Spanish Natl Canc Ctr CNIO, Human Genet Grp, Madrid, Spain

[47] Biomed Network Rare Dis CIBERER, Madrid, Spain

[48] Univ Pretoria, Dept Genet, ZA-0002 Pretoria, South Africa

[49] Landspitali Univ Hosp, Dept Pathol, Reykjavik, Iceland

[50] Univ Iceland, BMC, Fac Med, Reykjavik, Iceland

来源：

PLOS GENETICS | 2013年 / 9卷 / 03期

基金：

澳大利亚国家健康与医学研究理事会; 加拿大健康研究院; 美国国家卫生研究院; 英国医学研究理事会; 芬兰科学院;

关键词：

BRCA2 MUTATION CARRIERS; GENOME-WIDE ASSOCIATION; COMMON VARIANTS; SUSCEPTIBILITY ALLELES; ZNF365; SUBTYPES;

D O I：

10.1371/journal.pgen.1003173

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through population-based genome-wide association studies (GWAS). To comprehensively identify breast cancer risk modifying loci for BRCA2 mutation carriers, we conducted a deep replication of an ongoing GWAS discovery study. Using the ranked P-values of the breast cancer associations with the imputed genotype of 1.4 M SNPs, 19,029 SNPs were selected and designed for inclusion on a custom Illumina array that included a total of 211,155 SNPs as part of a multi-consortial project. DNA samples from 3,881 breast cancer affected and 4,330 unaffected BRCA2 mutation carriers from 47 studies belonging to the Consortium of Investigators of Modifiers of BRCA1/2 were genotyped and available for analysis. We replicated previously reported breast cancer susceptibility alleles in these BRCA2 mutation carriers and for several regions (including FGFR2, MAP3K1, CDKN2A/B, and PTHLH) identified SNPs that have stronger evidence of association than those previously published. We also identified a novel susceptibility allele at 6p24 that was inversely associated with risk in BRCA2 mutation carriers (rs9348512; per allele HR = 0.85, 95% CI 0.80-0.90, P = 3.9 x 10(-8)). This SNP was not associated with breast cancer risk either in the general population or in BRCA1 mutation carriers. The locus lies within a region containing TFAP2A, which encodes a transcriptional activation protein that interacts with several tumor suppressor genes. This report identifies the first breast cancer risk locus specific to a BRCA2 mutation background. This comprehensive update of novel and previously reported breast cancer susceptibility loci contributes to the establishment of a panel of SNPs that modify breast cancer risk in BRCA2 mutation carriers. This panel may have clinical utility for women with BRCA2 mutations weighing options for medical prevention of breast cancer.

引用

页数：15

共 35 条

[1] A map of human genome variation from population-scale sequencing
Altshuler, David
Durbin, Richard M.
Abecasis, Goncalo R.
Bentley, David R.
Chakravarti, Aravinda
Clark, Andrew G.
Collins, Francis S.
De la Vega, Francisco M.
Donnelly, Peter
Egholm, Michael
Flicek, Paul
Gabriel, Stacey B.
Gibbs, Richard A.
Knoppers, Bartha M.
Lander, Eric S.
Lehrach, Hans
Mardis, Elaine R.
McVean, Gil A.
Nickerson, DebbieA.
Peltonen, Leena
Schafer, Alan J.
Sherry, Stephen T.
Wang, Jun
Wilson, Richard K.
Gibbs, Richard A.
Deiros, David
Metzker, Mike
Muzny, Donna
Reid, Jeff
Wheeler, David
Wang, Jun
Li, Jingxiang
Jian, Min
Li, Guoqing
Li, Ruiqiang
Liang, Huiqing
Tian, Geng
Wang, Bo
Wang, Jian
Wang, Wei
Yang, Huanming
Zhang, Xiuqing
Zheng, Huisong
Lander, Eric S.
Altshuler, David L.
Ambrogio, Lauren
Bloom, Toby
Cibulskis, Kristian
Fennell, Tim J.
Gabriel, Stacey B.
[J]. NATURE, 2010, 467 (7319) : 1061 - 1073
[2] The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions
Antoniou, A. C.
Cunningham, A. P.
Peto, J.
Evans, D. G.
Lalloo, F.
Narod, S. A.
Risch, H. A.
Eyfjord, J. E.
Hopper, J. L.
Southey, M. C.
Olsson, H.
Johannsson, O.
Borg, A.
Passini, B.
Radice, P.
Manoukian, S.
Eccles, D. M.
Tang, N.
Olah, E.
Anton-Culver, H.
Warner, E.
Lubinski, J.
Gronwald, J.
Gorski, B.
Tryggvadottir, L.
Syrjakoski, K.
Kallioniemi, O-P
Eerola, H.
Nevanlinna, H.
Pharoah, P. D. P.
Easton, D. F.
[J]. BRITISH JOURNAL OF CANCER, 2008, 98 (08) : 1457 - 1466
[3] A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes
Antoniou, AC
Goldgar, DE
Andrieu, N
Chang-Claude, J
Brohet, R
Rookus, MA
Easton, DF
[J]. GENETIC EPIDEMIOLOGY, 2005, 29 (01) : 1 - 11
[4] Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
Antoniou, Antonis C.
Spurdle, Amanda B.
Sinilnikova, Olga M.
Healey, Sue
Pooley, Karen A.
Schmutzler, Rita K.
Versmold, Beatrix
Engel, Christoph
Meindl, Alfons
Arnold, Norbert
Hofmann, Wera
Sutter, Christian
Niederacher, Dieter
Deissler, Helmut
Caldes, Trinidad
Kampjarvi, Kati
Nevanlinna, Heli
Simard, Jacques
Beesley, Jonathan
Chen, Xiaoqing
Neuhausen, Susan L.
Rebbeck, Timothy R.
Wagner, Theresa
Lynch, Henry T.
Isaacs, Claudine
Weitzel, Jeffrey
Ganz, Patricia A.
Daly, Mary B.
Tomlinson, Gail
Olopade, Olufunmilayo I.
Bium, Joanne L.
Couch, Fergus J.
Peterlongo, Paolo
Manoukian, Siranoush
Barile, Monica
Radice, Paolo
Szabo, Csilla I.
Pereira, Lutecia H. Mateus
Greene, Mark H.
Rennert, Gad
Leibkowicz, Flavio
Barnett-Griness, Ofra
Andrulis, Irene L.
Ozcelik, Hilmi
Gerdes, Anne-Marie
Caligo, Maria A.
Laitman, Yael
Kaufman, Bella
Milgrom, Roni
Friedman, Eitan
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (04) : 937 - 948
[5] RAD51 135G→C modifies breast cancer risk among BRCA2 mutation carriers:: Results from a combined analysis of 19 studies
Antoniou, Antonis C.
Sinilnikova, Olga M.
Simard, Jacques
Leone, Melanie
Dumont, Martine
Neuhausen, Susan L.
Struewing, Jeffery P.
Stoppa-Lyonnet, Dominique
Barjhoux, Laure
Hughes, David J.
Coupier, Isabelle
Belotti, Muriel
Lasset, Christine
Rebbeck, Timothy R.
Wagner, Theresa
Lynch, Henry T.
Domchek, Susan M.
Nathanson, Katherine L.
Garber, Judy E.
Weitzel, Jeffrey
Narod, Steven A.
Tomlinson, Gail
Olopade, Olufunmilayo I.
Godwin, Andrew
Isaacs, Claudine
Jakubowska, Anna
Lubinski, Jan
Gronwald, Jacek
Gorski, Bohdan
Byrski, Tomasz
Huzarski, Tomasz
Peock, Susan
Cook, Margaret
Baynes, Caroline
Murray, Alexandra
Rogers, Mark
Daly, Peter A.
Dorkins, Huw
Schmutzler, Rita K.
Versmold, Beatrix
Engel, Christoph
Meindl, Alfons
Arnold, Norbert
Niederacher, Dieter
Deissler, Helmut
Spurdle, Amanda B.
Chen, Xiaoqing
Waddell, Nicola
Cloonan, Nicole
Kirchhoff, Tomas
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (06) : 1186 - 1200
[6] Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
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
[J]. BREAST CANCER RESEARCH, 2012, 14 (01)
[7] Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
Antoniou, Antonis C.
Kartsonaki, Christiana
Sinilnikova, Olga M.
Soucy, Penny
McGuffog, Lesley
Healey, Sue
Lee, Andrew
Peterlongo, Paolo
Manoukian, Siranoush
Peissel, Bernard
Zaffaroni, Daniela
Cattaneo, Elisa
Barile, Monica
Pensotti, Valeria
Pasini, Barbara
Dolcetti, Riccardo
Giannini, Giuseppe
Putignano, Anna Laura
Varesco, Liliana
Radice, Paolo
Mai, Phuong L.
Greene, Mark H.
Andrulis, Irene L.
Glendon, Gord
Ozcelik, Hilmi
Thomassen, Mads
Gerdes, Anne-Marie
Kruse, Torben A.
Jensen, Uffe Birk
Crueger, Dorthe G.
Caligo, Maria A.
Laitman, Yael
Milgrom, Roni
Kaufman, Bella
Paluch-Shimon, Shani
Friedman, Eitan
Loman, Niklas
Harbst, Katja
Lindblom, Annika
Arver, Brita
Ehrencrona, Hans
Melin, Beatrice
Nathanson, Katherine L.
Domchek, Susan M.
Rebbeck, Timothy
Jakubowska, Ania
Lubinski, Jan
Gronwald, Jacek
Huzarski, Tomasz
Byrski, Tomasz
[J]. HUMAN MOLECULAR GENETICS, 2011, 20 (16) : 3304 - 3321
[8] Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction
Antoniou, Antonis C.
Beesley, Jonathan
McGuffog, Lesley
Sinilnikova, Olga M.
Healey, Sue
Neuhausen, Susan L.
Ding, Yuan Chun
Rebbeck, Timothy R.
Weitzel, Jeffrey N.
Lynch, Henry T.
Isaacs, Claudine
Ganz, Patricia A.
Tomlinson, Gail
Olopade, Olufunmilayo I.
Couch, Fergus J.
Wang, Xianshu
Lindor, Noralane M.
Pankratz, Vernon S.
Radice, Paolo
Manoukian, Siranoush
Peissel, Bernard
Zaffaroni, Daniela
Barile, Monica
Viel, Alessandra
Allavena, Anna
Dall'Olio, Valentina
Peterlongo, Paolo
Szabo, Csilla I.
Zikan, Michal
Claes, Kathleen
Poppe, Bruce
Foretova, Lenka
Mai, Phuong L.
Greene, Mark H.
Rennert, Gad
Lejbkowicz, Flavio
Glendon, Gord
Ozcelik, Hilmi
Andrulis, Irene L.
Thomassen, Mads
Gerdes, Anne-Marie
Sunde, Lone
Cruger, Dorthe
Jensen, Uffe Birk
Caligo, Maria
Friedman, Eitan
Kaufman, Bella
Laitman, Yael
Milgrom, Roni
Dubrovsky, Maya
[J]. CANCER RESEARCH, 2010, 70 (23) : 9742 - 9754
[9] 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
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.
[J]. NATURE GENETICS, 2010, 42 (10) : 885 - +
[10] Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
Antoniou, Antonis C.
Sinilnikova, Olga M.
McGuffog, Lesley
Healey, Sue
Nevanlinna, Heli
Heikkinen, Tuomas
Simard, Jacques
Spurdle, Amanda B.
Beesley, Jonathan
Chen, Xiaoqing
Neuhausen, Susan L.
Ding, Yuan C.
Couch, Fergus J.
Wang, Xianshu
Fredericksen, Zachary
Peterlongo, Paolo
Peissel, Bernard
Bonanni, Bernardo
Viel, Alessandra
Bernard, Loris
Radice, Paolo
Szabo, Csilla I.
Foretova, Lenka
Zikan, Michal
Claes, Kathleen
Greene, Mark H.
Mai, Phuong L.
Rennert, Gad
Lejbkowicz, Flavio
Andrulis, Irene L.
Ozcelik, Hilmi
Glendon, Gord
Gerdes, Anne-Marie
Thomassen, Mads
Sunde, Lone
Caligo, Maria A.
Laitman, Yael
Kontorovich, Tair
Cohen, Shimrit
Kaufman, Bella
Dagan, Efrat
Baruch, Ruth Gershoni
Friedman, Eitan
Harbst, Katja
Barbany-Bustinza, Gisela
Rantala, Johanna
Ehrencrona, Hans
Karlsson, Per
Domchek, Susan M.
Nathanson, Katherine L.
[J]. HUMAN MOLECULAR GENETICS, 2009, 18 (22) : 4442 - 4456

← 1 2 3 4 →

共 35 条

[1] A map of human genome variation from population-scale sequencing
Altshuler, David
Durbin, Richard M.
Abecasis, Goncalo R.
Bentley, David R.
Chakravarti, Aravinda
Clark, Andrew G.
Collins, Francis S.
De la Vega, Francisco M.
Donnelly, Peter
Egholm, Michael
Flicek, Paul
Gabriel, Stacey B.
Gibbs, Richard A.
Knoppers, Bartha M.
Lander, Eric S.
Lehrach, Hans
Mardis, Elaine R.
McVean, Gil A.
Nickerson, DebbieA.
Peltonen, Leena
Schafer, Alan J.
Sherry, Stephen T.
Wang, Jun
Wilson, Richard K.
Gibbs, Richard A.
Deiros, David
Metzker, Mike
Muzny, Donna
Reid, Jeff
Wheeler, David
Wang, Jun
Li, Jingxiang
Jian, Min
Li, Guoqing
Li, Ruiqiang
Liang, Huiqing
Tian, Geng
Wang, Bo
Wang, Jian
Wang, Wei
Yang, Huanming
Zhang, Xiuqing
Zheng, Huisong
Lander, Eric S.
Altshuler, David L.
Ambrogio, Lauren
Bloom, Toby
Cibulskis, Kristian
Fennell, Tim J.
Gabriel, Stacey B.
[J]. NATURE, 2010, 467 (7319) : 1061 - 1073
[2] The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions
Antoniou, A. C.
Cunningham, A. P.
Peto, J.
Evans, D. G.
Lalloo, F.
Narod, S. A.
Risch, H. A.
Eyfjord, J. E.
Hopper, J. L.
Southey, M. C.
Olsson, H.
Johannsson, O.
Borg, A.
Passini, B.
Radice, P.
Manoukian, S.
Eccles, D. M.
Tang, N.
Olah, E.
Anton-Culver, H.
Warner, E.
Lubinski, J.
Gronwald, J.
Gorski, B.
Tryggvadottir, L.
Syrjakoski, K.
Kallioniemi, O-P
Eerola, H.
Nevanlinna, H.
Pharoah, P. D. P.
Easton, D. F.
[J]. BRITISH JOURNAL OF CANCER, 2008, 98 (08) : 1457 - 1466
[3] A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes
Antoniou, AC
Goldgar, DE
Andrieu, N
Chang-Claude, J
Brohet, R
Rookus, MA
Easton, DF
[J]. GENETIC EPIDEMIOLOGY, 2005, 29 (01) : 1 - 11
[4] Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
Antoniou, Antonis C.
Spurdle, Amanda B.
Sinilnikova, Olga M.
Healey, Sue
Pooley, Karen A.
Schmutzler, Rita K.
Versmold, Beatrix
Engel, Christoph
Meindl, Alfons
Arnold, Norbert
Hofmann, Wera
Sutter, Christian
Niederacher, Dieter
Deissler, Helmut
Caldes, Trinidad
Kampjarvi, Kati
Nevanlinna, Heli
Simard, Jacques
Beesley, Jonathan
Chen, Xiaoqing
Neuhausen, Susan L.
Rebbeck, Timothy R.
Wagner, Theresa
Lynch, Henry T.
Isaacs, Claudine
Weitzel, Jeffrey
Ganz, Patricia A.
Daly, Mary B.
Tomlinson, Gail
Olopade, Olufunmilayo I.
Bium, Joanne L.
Couch, Fergus J.
Peterlongo, Paolo
Manoukian, Siranoush
Barile, Monica
Radice, Paolo
Szabo, Csilla I.
Pereira, Lutecia H. Mateus
Greene, Mark H.
Rennert, Gad
Leibkowicz, Flavio
Barnett-Griness, Ofra
Andrulis, Irene L.
Ozcelik, Hilmi
Gerdes, Anne-Marie
Caligo, Maria A.
Laitman, Yael
Kaufman, Bella
Milgrom, Roni
Friedman, Eitan
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (04) : 937 - 948
[5] RAD51 135G→C modifies breast cancer risk among BRCA2 mutation carriers:: Results from a combined analysis of 19 studies
Antoniou, Antonis C.
Sinilnikova, Olga M.
Simard, Jacques
Leone, Melanie
Dumont, Martine
Neuhausen, Susan L.
Struewing, Jeffery P.
Stoppa-Lyonnet, Dominique
Barjhoux, Laure
Hughes, David J.
Coupier, Isabelle
Belotti, Muriel
Lasset, Christine
Rebbeck, Timothy R.
Wagner, Theresa
Lynch, Henry T.
Domchek, Susan M.
Nathanson, Katherine L.
Garber, Judy E.
Weitzel, Jeffrey
Narod, Steven A.
Tomlinson, Gail
Olopade, Olufunmilayo I.
Godwin, Andrew
Isaacs, Claudine
Jakubowska, Anna
Lubinski, Jan
Gronwald, Jacek
Gorski, Bohdan
Byrski, Tomasz
Huzarski, Tomasz
Peock, Susan
Cook, Margaret
Baynes, Caroline
Murray, Alexandra
Rogers, Mark
Daly, Peter A.
Dorkins, Huw
Schmutzler, Rita K.
Versmold, Beatrix
Engel, Christoph
Meindl, Alfons
Arnold, Norbert
Niederacher, Dieter
Deissler, Helmut
Spurdle, Amanda B.
Chen, Xiaoqing
Waddell, Nicola
Cloonan, Nicole
Kirchhoff, Tomas
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (06) : 1186 - 1200
[6] Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
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
[J]. BREAST CANCER RESEARCH, 2012, 14 (01)
[7] Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
Antoniou, Antonis C.
Kartsonaki, Christiana
Sinilnikova, Olga M.
Soucy, Penny
McGuffog, Lesley
Healey, Sue
Lee, Andrew
Peterlongo, Paolo
Manoukian, Siranoush
Peissel, Bernard
Zaffaroni, Daniela
Cattaneo, Elisa
Barile, Monica
Pensotti, Valeria
Pasini, Barbara
Dolcetti, Riccardo
Giannini, Giuseppe
Putignano, Anna Laura
Varesco, Liliana
Radice, Paolo
Mai, Phuong L.
Greene, Mark H.
Andrulis, Irene L.
Glendon, Gord
Ozcelik, Hilmi
Thomassen, Mads
Gerdes, Anne-Marie
Kruse, Torben A.
Jensen, Uffe Birk
Crueger, Dorthe G.
Caligo, Maria A.
Laitman, Yael
Milgrom, Roni
Kaufman, Bella
Paluch-Shimon, Shani
Friedman, Eitan
Loman, Niklas
Harbst, Katja
Lindblom, Annika
Arver, Brita
Ehrencrona, Hans
Melin, Beatrice
Nathanson, Katherine L.
Domchek, Susan M.
Rebbeck, Timothy
Jakubowska, Ania
Lubinski, Jan
Gronwald, Jacek
Huzarski, Tomasz
Byrski, Tomasz
[J]. HUMAN MOLECULAR GENETICS, 2011, 20 (16) : 3304 - 3321
[8] Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction
Antoniou, Antonis C.
Beesley, Jonathan
McGuffog, Lesley
Sinilnikova, Olga M.
Healey, Sue
Neuhausen, Susan L.
Ding, Yuan Chun
Rebbeck, Timothy R.
Weitzel, Jeffrey N.
Lynch, Henry T.
Isaacs, Claudine
Ganz, Patricia A.
Tomlinson, Gail
Olopade, Olufunmilayo I.
Couch, Fergus J.
Wang, Xianshu
Lindor, Noralane M.
Pankratz, Vernon S.
Radice, Paolo
Manoukian, Siranoush
Peissel, Bernard
Zaffaroni, Daniela
Barile, Monica
Viel, Alessandra
Allavena, Anna
Dall'Olio, Valentina
Peterlongo, Paolo
Szabo, Csilla I.
Zikan, Michal
Claes, Kathleen
Poppe, Bruce
Foretova, Lenka
Mai, Phuong L.
Greene, Mark H.
Rennert, Gad
Lejbkowicz, Flavio
Glendon, Gord
Ozcelik, Hilmi
Andrulis, Irene L.
Thomassen, Mads
Gerdes, Anne-Marie
Sunde, Lone
Cruger, Dorthe
Jensen, Uffe Birk
Caligo, Maria
Friedman, Eitan
Kaufman, Bella
Laitman, Yael
Milgrom, Roni
Dubrovsky, Maya
[J]. CANCER RESEARCH, 2010, 70 (23) : 9742 - 9754
[9] 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
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.
[J]. NATURE GENETICS, 2010, 42 (10) : 885 - +
[10] Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
Antoniou, Antonis C.
Sinilnikova, Olga M.
McGuffog, Lesley
Healey, Sue
Nevanlinna, Heli
Heikkinen, Tuomas
Simard, Jacques
Spurdle, Amanda B.
Beesley, Jonathan
Chen, Xiaoqing
Neuhausen, Susan L.
Ding, Yuan C.
Couch, Fergus J.
Wang, Xianshu
Fredericksen, Zachary
Peterlongo, Paolo
Peissel, Bernard
Bonanni, Bernardo
Viel, Alessandra
Bernard, Loris
Radice, Paolo
Szabo, Csilla I.
Foretova, Lenka
Zikan, Michal
Claes, Kathleen
Greene, Mark H.
Mai, Phuong L.
Rennert, Gad
Lejbkowicz, Flavio
Andrulis, Irene L.
Ozcelik, Hilmi
Glendon, Gord
Gerdes, Anne-Marie
Thomassen, Mads
Sunde, Lone
Caligo, Maria A.
Laitman, Yael
Kontorovich, Tair
Cohen, Shimrit
Kaufman, Bella
Dagan, Efrat
Baruch, Ruth Gershoni
Friedman, Eitan
Harbst, Katja
Barbany-Bustinza, Gisela
Rantala, Johanna
Ehrencrona, Hans
Karlsson, Per
Domchek, Susan M.
Nathanson, Katherine L.
[J]. HUMAN MOLECULAR GENETICS, 2009, 18 (22) : 4442 - 4456

← 1 2 3 4 →