Interactions Between Genetic Variants and Breast Cancer Risk Factors in the Breast and Prostate Cancer Cohort Consortium

被引：144

作者：

Campa, Daniele ^{[1
]}

Kaaks, Rudolf ^{[2
]}

Le Marchand, Loic ^{[3
]}

Haiman, Christopher A. ^{[4
]}

Travis, Ruth C. ^{[5
]}

Berg, Christine D. ^{[6
]}

Buring, Julie E. ^{[7
,8
,9
]}

Chanock, Stephen J. ^{[6
]}

Diver, W. Ryan ^{[10
]}

Dostal, Lucie ^{[2
]}

Fournier, Agnes ^{[11
,12
]}

Hankinson, Susan E. ^{[8
,9
]}

Henderson, Brian E. ^{[4
]}

Hoover, Robert N. ^{[6
]}

Isaacs, Claudine ^{[13
]}

Johansson, Mattias ^{[14
,15
]}

Kolonel, Laurence N. ^{[3
]}

Kraft, Peter ^{[7
]}

Lee, I-Min ^{[8
,9
]}

McCarty, Catherine A. ^{[16
]}

Overvad, Kim ^{[17
]}

Panico, Salvatore ^{[18
]}

Peeters, Petra H. M. ^{[19
]}

Riboli, Elio ^{[20
]}

Jose Sanchez, Maria ^{[21
,22
]}

Schumacher, Fredrick R. ^{[4
]}

Skeie, Guri ^{[23
]}

Stram, Daniel O. ^{[4
]}

Thun, Michael J. ^{[10
]}

Trichopoulos, Dimitrios ^{[7
,24
]}

Zhang, Shumin ^{[8
,9
]}

Ziegler, Regina G. ^{[6
]}

Hunter, David J. ^{[7
]}

Lindstroem, Sara ^{[7
]}

Canzian, Federico ^{[1
]}

机构：

[1] Deutsch Krebsforschungszentrum, Genom Epidemiol Grp, German Canc Res Ctr, D-69120 Heidelberg, Germany

[2] Deutsch Krebsforschungszentrum, Div Canc Epidemiol, German Canc Res Ctr, D-69120 Heidelberg, Germany

[3] Univ Hawaii, Canc Res Ctr, Honolulu, HI 96813 USA

[4] Univ So Calif, Los Angeles, CA USA

[5] Univ Oxford, Canc Epidemiol Unit, Oxford, England

[6] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA

[7] Harvard Univ, Sch Publ Hlth, Boston, MA 02115 USA

[8] Harvard Univ, Sch Med, Boston, MA 02115 USA

[9] Brigham & Womens Hosp, Boston, MA 02115 USA

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

[11] Ctr Res Epidemiol & Populat Hlth, INSERM, Nutr Hormones & Womens Hlth Team, U1018, Villejuif, France

[12] Paris S Univ, UMRS 1018, Villejuif, France

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

[14] Int Agcy Res Canc, F-69372 Lyon, France

[15] Umea Univ, Dept Surg & Perioperat Sci Urol & Androl, Umea, Sweden

[16] Marshfield Clin Fdn Med Res & Educ, Ctr Human Genet, Marshfield, WI 54449 USA

[17] Aarhus Univ Hosp, Dept Clin Epidemiol, Aalborg, Denmark

[18] Univ Naples Federico II, Dept Clin & Expt Med, Naples, Italy

[19] Univ Med Ctr, Julius Ctr, Utrecht, Netherlands

[20] Univ London Imperial Coll Sci Technol & Med, London, England

[21] Andalusian Sch Publ Hlth, Granada, Spain

[22] Consorcio Invest Biomed Red Epidemiol & Salud Pub, Granada, Spain

[23] Univ Tromso, Dept Community Med, Tromso, Norway

[24] Acad Athens, Bur Epidemiol Res, Athens, Greece

来源：

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE | 2011年 / 103卷 / 16期

基金：

美国国家卫生研究院;

关键词：

GENOME-WIDE ASSOCIATION; CONFER SUSCEPTIBILITY; COMMON VARIANTS; FGFR2; GENE; AMERICAN; VALIDITY; ALLELES; VALIDATION; PREVENTION; WEIGHT;

D O I：

10.1093/jnci/djr265

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 [肿瘤学];

摘要：

Background Recently, several genome-wide association studies have identified various genetic susceptibility loci for breast cancer. Relatively little is known about the possible interactions between these loci and the established risk factors for breast cancer. Methods To assess interactions between single-nucleotide polymorphisms (SNPs) and established risk factors, we prospectively collected DNA samples and questionnaire data from 8576 breast cancer case subjects and 11 892 control subjects nested within the National Cancer Institute's Breast and Prostate Cancer Cohort Consortium (BPC3). We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk. We performed likelihood ratio test to assess interactions between 17 SNPs and nine established risk factors (age at menarche, parity, age at menopause, use of hormone replacement therapy, family history, height, body mass index, smoking status, and alcohol consumption), and a correction for multiple testing of 153 tests (adjusted P value threshold = .05/153 = 3 x 10(-4)) was done. Casecase comparisons were performed for possible differential associations of polymorphisms by subgroups of tumor stage, estrogen and progesterone receptor status, and age at diagnosis. All statistical tests were two-sided. Results We confirmed the association of 14 SNPs with breast cancer risk (P-trend = 2.57 x 10(-3) -3.96 x 10(-19)). Three SNPs (LSP1-rs3817198, COL1A1-rs2075555, and RNF146-rs2180341) did not show association with breast cancer risk. After accounting for multiple testing, no statistically significant interactions were detected between the 17 SNPs and the nine risk factors. We also confirmed that SNPs in FGFR2 and TNRC9 were associated with greater risk of estrogen receptor-positive than estrogen receptor-negative breast cancer (P-heterogeneity = .0016 for FGFR2-rs2981582 and P-heterogeneity = .0053 for TNRC9-rs3803662). SNP 5p12-rs10941679 was statistically significantly associated with greater risk of progesterone receptor-positive than progesterone receptor-negative breast cancer (P-heterogeneity = .0028). Conclusion This study does not support the hypothesis that known common breast cancer susceptibility loci strongly modify the associations between established risk factors and breast cancer.

引用

页码：1252 / 1263

页数：12

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