A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers

被引：18

作者：

Ding, Yuan C. ^{[1
,70
]}

McGuffog, Lesley ^{[2
]}

Healey, Sue ^{[5
]}

Friedman, Eitan ^{[6
,7
,8
]}

Laitman, Yael ^{[6
,7
,8
]}

Shani-Paluch-Shimon ^{[6
,7
,8
]}

Kaufman, Bella ^{[6
,7
,8
]}

Liljegren, Annelie ^{[9
]}

Lindblom, Annika ^{[10
]}

Olsson, Hakan ^{[11
]}

Kristoffersson, Ulf ^{[12
]}

Stenmark-Askmalm, Marie ^{[13
]}

Melin, Beatrice ^{[14
]}

Domchek, Susan M. ^{[15
]}

Nathanson, Katherine L. ^{[15
]}

Rebbeck, Timothy R. ^{[15
]}

Jakubowska, Anna ^{[17
]}

Lubinski, Jan ^{[17
]}

Jaworska, Katarzyna ^{[17
]}

Durda, Katarzyna ^{[17
]}

Gronwald, Jacek ^{[17
]}

Huzarski, Tomasz ^{[17
]}

Cybulski, Cezary ^{[17
]}

Byrski, Tomasz ^{[17
]}

Osorio, Ana ^{[18
,19
,20
]}

Ramony Cajal, Teresa ^{[21
]}

Stavropoulou, Alexandra V. ^{[24
]}

Benitez, Javier ^{[18
,19
,20
]}

Hamann, Ute ^{[25
]}

Rookus, Matti ^{[26
]}

Aalfs, Cora M. ^{[27
]}

de Lange, Judith L. ^{[26
]}

Meijers-Heijboer, Hanne E. J. ^{[28
]}

Oosterwijk, Jan C. ^{[131
]}

van Asperen, Christi J. ^{[132
]}

Garcia, Encarna B. Gomez ^{[133
,134
]}

Hoogerbrugge, Nicoline ^{[135
]}

Jager, Agnes ^{[136
]}

van der Luijt, Rob B. ^{[137
]}

Easton, Douglas F. ^{[3
]}

Peock, Susan ^{[3
]}

Frost, Debra ^{[3
]}

Ellis, Steve D. ^{[3
]}

Platte, Radka ^{[3
]}

Fineberg, Elena ^{[3
]}

Evans, D. Gareth ^{[29
]}

Lalloo, Fiona ^{[29
]}

Izatt, Louise ^{[30
]}

Eeles, Ros ^{[31
,32
]}

Adlard, Julian ^{[33
]}

机构：

[1] Beckman Res Inst City Hope, Dept Populat Sci, 1500 East Duarte Rd, Duarte, CA 91010 USA

[2] Univ Cambridge Worts Causeway, Strangeways Res Lab, Dept Publ Hlth & Primary Care, Cambridge, England

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

[4] Univ Cambridge, Dept Med Genet, Cambridge, England

[5] Royal Brisbane Hosp, Queensland Inst Med Res, Genet & Populat Hlth Div, Brisbane, Qld 4029, Australia

[6] Chaim Sheba Med Ctr, Oncogenet Unit, IL-52621 Tel Hashomer, Israel

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

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

[9] Karolinska Univ Hosp, Dept Oncol, Stockholm, Sweden

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

[11] Univ Lund Hosp, Dept Oncol, S-22185 Lund, Sweden

[12] Univ Lund Hosp, Dept Clin Genet, S-22185 Lund, Sweden

[13] Linkoping Univ, Dept Clin & Expt Med, Div Clin Genet, Linkoping, Sweden

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

[15] Univ Penn, Abramson Canc Ctr, Philadelphia, PA 19104 USA

[16] Fox Chase Canc Ctr, Philadelphia, PA 19111 USA

[17] Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland

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

[19] Spanish Natl Canc Res Ctr, Human Canc Genet Programme, Genotyping Unit, Madrid, Spain

[20] Spanish Network Rare Dis CIBERER, Barcelona, Spain

[21] Hosp Santa Creu & Sant Pau, Oncol Serv, Barcelona, Spain

[22] Inst Catala Oncol, Lab Recerca Translac, Hereditary Canc Program, Mol Diagnost Unit, Barcelona, Spain

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

[24] Natl Ctr Sci Res Demokritos, IRRP, Mol Diagnost Lab, Athens, Greece

[25] Deutsch Krebsforschungszentrum DKFZ, Heidelberg, Germany

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

[27] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands

[28] Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Amsterdam, Netherlands

[29] Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Manchester, Lancs, England

[30] Guys & St Thomas NHS Fdn Trust, London, England

[31] Inst Canc Res, Oncogenet Team, London SW36JB, England

[32] Royal Marsden NHS Fdn Trust, London, England

[33] Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England

[34] Yorkhill Hosp, Ferguson Smith Ctr Clin Genet, Glasgow, Lanark, Scotland

[35] Univ Hosp Southampton NHS Fdn Trust, Wessex Clin Genet Serv, Southampton, Hants, England

[36] Birmingham Womens Hosp Healthcare NHS Trust, W Midlands Reg Genet Serv, Birmingham, W Midlands, England

[37] Sheffield Childrens Hosp, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England

[38] Royal Devon & Exeter Hosp, Dept Clin Genet, Exeter EX2 5DW, Devon, England

[39] Univ Kansas, Med Ctr, Dept Pathol & Lab Med, Kansas City, KS 66103 USA

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

[41] Inst Curie, Unite INSERM U830, Paris, France

[42] Univ Paris 05, Fac Med, Paris, France

[43] CHU Grenoble, Dept Genet, F-38043 Grenoble, France

[44] Univ Grenoble, Inst Albert Bonniot, Grenoble, France

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

[46] Ctr Hosp Univ Lyon, Ctr Leon Berard, Unite Mixte Genet Constitut Canc Frequents, Lyon, France

[47] CHU Besancon, Serv Genet Biol Histol Biol Dev & Reprod, F-25030 Besancon, France

[48] Nancy Univ, Ctr Hosp Reg & Univ, Med Genet Lab, Vandoeuvre Les Nancy, France

[49] Ctr Francois Baclesse, F-14021 Caen, France

[50] Univ Utah, Huntsman Canc Inst, Dept Oncol Sci, Salt Lake City, UT USA

来源：

CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION | 2012年 / 21卷 / 08期

基金：

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

关键词：

AMINO-ACID POLYMORPHISM; GROWTH-FACTOR-I; GENETIC-VARIATION; INSULIN; RECEPTOR; EXPRESSION; IGF; PROTEINS; FAMILY; AXIS;

D O I：

10.1158/1055-9965.EPI-12-0229

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Background: We previously reported significant associations between genetic variants in insulin receptor substrate 1 (IRS1) and breast cancer risk in women carrying BRCA1 mutations. The objectives of this study were to investigate whether the IRS1 variants modified ovarian cancer risk and were associated with breast cancer risk in a larger cohort of BRCA1 and BRCA2 mutation carriers. Methods: IRS1 rs1801123, rs1330645, and rs1801278 were genotyped in samples from 36 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Data were analyzed by a retrospective cohort approach modeling the associations with breast and ovarian cancer risks simultaneously. Analyses were stratified by BRCA1 and BRCA2 status and mutation class in BRCA1 carriers. Results: Rs1801278 (Gly972Arg) was associated with ovarian cancer risk for both BRCA1 (HR, 1.43; 95% confidence interval (CI), 1.06-1.92; P = 0.019) and BRCA2 mutation carriers (HR, 2.21; 95% CI, 1.39-3.52, P = 0.0008). For BRCA1 mutation carriers, the breast cancer risk was higher in carriers with class II mutations than class I mutations (class II HR, 1.86; 95% CI, 1.28-2.70; class I HR, 0.86; 95%CI, 0.69-1.09; P-difference, 0.0006). Rs13306465 was associated with ovarian cancer risk in BRCA1 class II mutation carriers (HR, 2.42; P = 0.03). Conclusion: The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insulin signaling, modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers and breast cancer risk in BRCA1 class II mutation carriers. Impact: These findings may prove useful for risk prediction for breast and ovarian cancers in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev; 21(8); 1362-70. (C)2012 AACR.

引用

页码：1362 / 1370

页数：9

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