Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

被引：85

作者：

Antoniou, Antonis C. ^{[1
]}

Sinilnikova, Olga M. ^{[2
]}

McGuffog, Lesley ^{[1
]}

Healey, Sue ^{[3
]}

Nevanlinna, Heli ^{[4
]}

Heikkinen, Tuomas ^{[4
]}

Simard, Jacques ^{[5
,6
]}

Spurdle, Amanda B. ^{[3
]}

Beesley, Jonathan ^{[3
]}

Chen, Xiaoqing ^{[3
]}

Neuhausen, Susan L. ^{[8
]}

Ding, Yuan C. ^{[8
]}

Couch, Fergus J. ^{[9
]}

Wang, Xianshu ^{[9
]}

Fredericksen, Zachary ^{[9
]}

Peterlongo, Paolo ^{[10
,11
]}

Peissel, Bernard ^{[10
]}

Bonanni, Bernardo ^{[12
]}

Viel, Alessandra ^{[13
]}

Bernard, Loris ^{[12
,14
]}

Radice, Paolo ^{[10
,11
]}

Szabo, Csilla I. ^{[15
]}

Foretova, Lenka ^{[16
]}

Zikan, Michal ^{[17
]}

Claes, Kathleen ^{[18
]}

Greene, Mark H. ^{[19
]}

Mai, Phuong L. ^{[19
]}

Rennert, Gad ^{[20
,21
,22
]}

Lejbkowicz, Flavio ^{[20
,21
,22
]}

Andrulis, Irene L. ^{[23
,24
,25
]}

Ozcelik, Hilmi

Glendon, Gord ^{[23
]}

Gerdes, Anne-Marie ^{[26
]}

Thomassen, Mads ^{[26
]}

Sunde, Lone ^{[27
]}

Caligo, Maria A. ^{[28
,29
]}

Laitman, Yael ^{[30
]}

Kontorovich, Tair ^{[30
]}

Cohen, Shimrit ^{[30
]}

Kaufman, Bella ^{[31
,32
]}

Dagan, Efrat ^{[33
]}

Baruch, Ruth Gershoni ^{[33
]}

Friedman, Eitan ^{[30
,32
]}

Harbst, Katja ^{[34
]}

Barbany-Bustinza, Gisela ^{[35
]}

Rantala, Johanna ^{[35
]}

Ehrencrona, Hans ^{[36
]}

Karlsson, Per ^{[37
]}

Domchek, Susan M. ^{[38
]}

Nathanson, Katherine L. ^{[38
]}

机构：

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

[2] Univ Lyon, CNRS, Hosp Civils Lyon,Ctr Leon Berard,UMR5201, Unite Mixte Genet Constitut Canc Frequents, Lyon, France

[3] Queensland Inst Med Res, Brisbane, Qld 4029, Australia

[4] Univ Helsinki, Cent Hosp, Dept Obstet & Gynecol, FIN-00290 Helsinki, Finland

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

[6] Univ Quebec, Ctr Hosp, Canada Res Chair Oncogenet, Canc Genom Lab, Quebec City, PQ, Canada

[7] Peter MacCallum Canc Inst, Melbourne, Vic 3002, Australia

[8] Univ Calif Irvine, Dept Epidemiol, Irvine, CA USA

[9] Mayo Clin, Rochester, MN USA

[10] Fdn IRCCS Ist Nazl Tumori, Milan, Italy

[11] Fdn Ist FIRC Oncol Molecolare, Milan, Italy

[12] Ist Europeo Oncol, Milan, Italy

[13] IRCCS, Ctr Riferimento Oncol, Aviano, Italy

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

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

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

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

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

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

[20] CHS Natl Canc Control Ctr, Haifa, Israel

[21] Carmel Hosp, Dept Community Med & Epidemiol, Haifa, Israel

[22] B Rappaport Fac Med, Haifa, Israel

[23] Canc Care Ontario, Ontario Canc Genet Network, Toronto, ON M5G 2L7, Canada

[24] Mt Sinai Hosp, Fred A Litwin Ctr Canc Genet, Samuel Lunenfeld Res Inst, Toronto, ON, Canada

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

[26] Odense Univ Hosp, Dept Biochem Pharmacol & Genet, DK-5000 Odense, Denmark

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

[28] Univ Pisa, Div Surg Mol & Ultrastructural Pathol, Dept Oncol, Pisa, Italy

[29] Pisa Univ Hosp, Pisa, Italy

[30] Chaim Sheba Med Ctr, Susanne Levy Gertner Oncogenet Unit, IL-52621 Tel Hashomer, Israel

[31] Chaim Sheba Med Ctr, Inst Oncol, IL-52621 Tel Hashomer, Israel

[32] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel

[33] Rambam Med Ctr, Genet Inst, Haifa, Israel

[34] Lund Univ, Dept Oncol, S-22100 Lund, Sweden

[35] Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden

[36] Uppsala Univ, Dept Genet & Pathol, Uppsala, Sweden

[37] Sahlgrenska Univ, Dept Oncol, Gothenburg, Sweden

[38] Univ Penn, Philadelphia, PA 19104 USA

[39] Ctr Invest Biomed Red Enfermedades Raras CIBERERE, Inst Salud Carlos III, Madrid, Spain

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

[41] Catalan Inst Oncol ICO, Canc Genet Counseling Program, Barcelona, Spain

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

[43] Deutsch Krebsforschungszentrum, Neuenheimer Feld 580 69120, D-6900 Heidelberg, Germany

[44] Netherlands Canc Inst, Dept Pathol, Family Canc Clin, NL-1066 CX Amsterdam, Netherlands

[45] Netherlands Canc Inst, Dept Epidemiol, Amsterdam, Netherlands

[46] Erasmus Univ, Dept Clin Genet, Rotterdam Family Canc Clin, Med Ctr, NL-3000 DR Rotterdam, Netherlands

[47] Dept Genet Epidemiol, Leiden, Netherlands

[48] Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Leiden, Netherlands

[49] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands

[50] Univ Utrecht, Med Ctr, Dept Clin Mol Genet, NL-3508 TC Utrecht, Netherlands

来源：

HUMAN MOLECULAR GENETICS | 2009年 / 18卷 / 22期

关键词：

GENOME-WIDE ASSOCIATION; ESTROGEN-RECEPTOR; OVARIAN-CANCER; SUSCEPTIBILITY; GENE; POPULATION; EXPRESSION; ALLELES;

D O I：

10.1093/hmg/ddp372

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Genome-wide association studies of breast cancer have identified multiple single nucleotide polymorphisms (SNPs) that are associated with increased breast cancer risks in the general population. In a previous study, we demonstrated that the minor alleles at three of these SNPs, in FGFR2, TNRC9 and MAP3K1, also confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. Three additional SNPs rs3817198 at LSP1, rs13387042 at 2q35 and rs13281615 at 8q24 have since been reported to be associated with breast cancer in the general population, and in this study we evaluated their association with breast cancer risk in 9442 BRCA1 and 5665 BRCA2 mutation carriers from 33 study centres. The minor allele of rs3817198 was associated with increased breast cancer risk only for BRCA2 mutation carriers [hazard ratio (HR) = 1.16, 95% CI: 1.07-1.25, P-trend = 2.8 x 10(-4)]. The best fit for the association of SNP rs13387042 at 2q35 with breast cancer risk was a dominant model for both BRCA1 and BRCA2 mutation carriers (BRCA1: HR = 1.14, 95% CI: 1.04-1.25, P = 0.0047; BRCA2: HR = 1.18 95% CI: 1.04-1.33, P = 0.0079). SNP rs13281615 at 8q24 was not associated with breast cancer for either BRCA1 or BRCA2 mutation carriers, but the estimated association for BRCA2 mutation carriers (per-allele HR = 1.06, 95% CI: 0.98-1.14) was consistent with odds ratio estimates derived from population-based case-control studies. The LSP1 and 2q35 SNPs appear to interact multiplicatively on breast cancer risk for BRCA2 mutation carriers. There was no evidence that the associations vary by mutation type depending on whether the mutated protein is predicted to be stable or not.

引用

页码：4442 / 4456

页数：15

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