Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

被引：145

作者：

Antoniou, Antonis C. ^{[1
]}

Beesley, Jonathan ^{[2
]}

McGuffog, Lesley ^{[1
]}

Sinilnikova, Olga M. ^{[3
]}

Healey, Sue ^{[2
]}

Neuhausen, Susan L. ^{[4
]}

Ding, Yuan Chun ^{[4
]}

Rebbeck, Timothy R. ^{[5
,6
]}

Weitzel, Jeffrey N. ^{[7
,9
]}

Lynch, Henry T. ^{[8
]}

Isaacs, Claudine

Ganz, Patricia A. ^{[10
]}

Tomlinson, Gail ^{[11
]}

Olopade, Olufunmilayo I. ^{[12
]}

Couch, Fergus J. ^{[13
]}

Wang, Xianshu ^{[13
]}

Lindor, Noralane M. ^{[14
]}

Pankratz, Vernon S. ^{[15
]}

Radice, Paolo ^{[16
,17
]}

Manoukian, Siranoush ^{[18
]}

Peissel, Bernard ^{[18
]}

Zaffaroni, Daniela ^{[18
]}

Barile, Monica ^{[19
]}

Viel, Alessandra ^{[20
]}

Allavena, Anna ^{[21
]}

Dall'Olio, Valentina ^{[22
]}

Peterlongo, Paolo ^{[16
,17
]}

Szabo, Csilla I. ^{[23
]}

Zikan, Michal ^{[24
]}

Claes, Kathleen ^{[25
]}

Poppe, Bruce ^{[25
]}

Foretova, Lenka ^{[26
]}

Mai, Phuong L. ^{[27
]}

Greene, Mark H. ^{[27
]}

Rennert, Gad ^{[28
,29
]}

Lejbkowicz, Flavio ^{[28
,29
]}

Glendon, Gord ^{[30
]}

Ozcelik, Hilmi ^{[31
,32
]}

Andrulis, Irene L. ^{[30
,31
,32
,33
]}

Thomassen, Mads ^{[34
]}

Gerdes, Anne-Marie ^{[35
]}

Sunde, Lone ^{[36
]}

Cruger, Dorthe ^{[37
]}

Jensen, Uffe Birk ^{[38
]}

Caligo, Maria ^{[39
,40
]}

Friedman, Eitan ^{[41
]}

Kaufman, Bella ^{[42
]}

Laitman, Yael ^{[41
]}

Milgrom, Roni ^{[41
]}

Dubrovsky, Maya ^{[41
]}

机构：

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

[2] Queensland Inst Med Res, Brisbane, Qld, Australia

[3] Univ Lyon 1, Ctr Leon Berard, Unite Mixte Genet Constitut Canc Frequents, Ctr Hosp, F-69365 Lyon, France

[4] Beckman Res Inst City Hope, Dept Populat Sci, Duarte, CA USA

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

[6] Univ Penn, Sch Med, Ctr Clin Epidemiol & Biostat, Philadelphia, PA 19104 USA

[7] City Hope Natl Med Ctr, Duarte, CA 91010 USA

[8] Creighton Univ, Omaha, NE 68178 USA

[9] Georgetown Univ, Lombardi Comprehens Canc Ctr, Washington, DC USA

[10] Univ Calif Los Angeles, Jonsson Comprehens Canc Ctr, Los Angeles, CA 90024 USA

[11] Univ Texas Hlth Sci Ctr San Antonio, San Antonio, TX 78229 USA

[12] Univ Chicago, Med Ctr, Chicago, IL 60637 USA

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

[14] Mayo Clin, Dept Med Genet, Rochester, MN USA

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

[16] Fdn IRCCS Ist Nazl Tumori INT, Unit Genet Susceptibil Canc, Dept Expt Oncol & Mol Med, Milan, Italy

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

[18] Fdn IRCCS Ist Nazl Tumori INT, Unit Med Genet, Dept Prevent & Predict Med, Milan, Italy

[19] IEO, Div Canc Prevent & Genet, Milan, Italy

[20] IRCCS, CRO, Div Expt Oncol 1, Aviano, PN, Italy

[21] Univ Turin, Dept Genet Biol & Biochem, Turin, Italy

[22] Cogentech, Consortium Genom Technol, Milan, Italy

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

[24] Charles Univ Prague, Fac Med 1, Dept Biochem & Expt Oncol, Prague, Czech Republic

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

[26] Masaryk Mem Canc Inst, Dept Canc Epidemiol & Genet, Brno, Czech Republic

[27] US Natl Canc Inst, Clin Genet Branch, Rockville, MD USA

[28] Technion Israel Inst Technol, Carmel Med Ctr, Haifa, Israel

[29] Technion Israel Inst Technol, Bruce Rappaport Fac Med, IL-31096 Haifa, Israel

[30] OCGN, Toronto, ON, Canada

[31] Mt Sinai Hosp, Fred A Litwin Ctr Canc Genet, Samuel Lunenfeld Res Inst, New York, NY 10029 USA

[32] Univ Toronto, Dept Lab Med & Pathol, Toronto, ON, Canada

[33] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada

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

[35] Rigshosp, Dept Clin Genet, Odense, Denmark

[36] Aalborg Hosp, Dept Clin Genet, Aalborg, Denmark

[37] Vejle Hosp, Dept Clin Genet, Velje, Denmark

[38] Aarhus Univ Hosp, Dept Clin Genet, DK-8000 Aarhus, Denmark

[39] Univ Pisa, Div Surg Mol & Ultrastruct Pathol, Dept Oncol, Pisa, Italy

[40] Pisa Univ Hosp, Pisa, Italy

[41] Sheba Med Ctr, Susanne Levy Gertner Oncogenet Unit, Tel Hashomer, Israel

[42] Sheba Med Ctr, Inst Oncol, Tel Hashomer, Israel

[43] Lund Univ, Dept Oncol, Lund, Sweden

[44] Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden

[45] Linkoping Univ, Dept Oncol, Linkoping, Sweden

[46] Umea Univ, Dept Radiat Sci, Umea, Sweden

[47] Univ Penn, Philadelphia, PA 19104 USA

[48] Pomeranian Med Univ, Int Hereditary Canc Ctr, Dept Genet & Pathol, Szczecin, Poland

[49] Spanish Natl Canc Res Ctr, Human Genet Grp, Human Canc Genet Programme, Madrid, Spain

[50] Hosp Santa Creu & Sant Pau, Genet Serv, Barcelona, Spain

来源：

CANCER RESEARCH | 2010年 / 70卷 / 23期

关键词：

GENOME-WIDE ASSOCIATION; ESTROGEN-RECEPTOR; LOCI; VARIANTS;

D O I：

10.1158/0008-5472.CAN-10-1907

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR - 1.10, 95% CI: 1.03-1.18, P - 0.006 and HR - 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P 7 = 10 x (11) - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42%

引用

页码：9742 / 9754

页数：13

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