Genetic Variants at Chromosomes 2q35, 5p12, 6q25.1, 10q26.13, and 16q12.1 Influence the Risk of Breast Cancer in Men

被引：34

作者：

Orr, Nick ^{[1
]}

Cooke, Rosie ^{[2
]}

Jones, Michael ^{[2
]}

Fletcher, Olivia ^{[1
]}

Dudbridge, Frank ^{[3
]}

Chilcott-Burns, Sarah ^{[1
]}

Tomczyk, Katarzyna ^{[1
]}

Broderick, Peter ^{[4
]}

Houlston, Richard ^{[4
]}

Ashworth, Alan ^{[1
]}

Swerdlow, Anthony ^{[2
]}

机构：

[1] Inst Canc Res, Breakthrough Breast Canc Res Ctr, London SW3 6JB, England

[2] Inst Canc Res, Epidemiol Sect, Sutton, Surrey, England

[3] London Sch Hyg & Trop Med, Dept Noncommunicable Dis Epidemiol, London WC1, England

[4] Inst Canc Res, Sect Canc Genet, Sutton, Surrey, England

来源：

PLOS GENETICS | 2011年 / 7卷 / 09期

关键词：

GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; ESTROGEN-RECEPTOR; MUTATION CARRIERS; EPIDEMIOLOGY; ALLELES; BRCA1;

D O I：

10.1371/journal.pgen.1002290

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Male breast cancer accounts for approximately 1% of all breast cancer. To date, risk factors for male breast cancer are poorly defined, but certain risk factors and genetic features appear common to both male and female breast cancer. Genome-wide association studies (GWAS) have recently identified common single nucleotide polymorphisms (SNPs) that influence female breast cancer risk; 12 of these have been independently replicated. To examine if these variants contribute to male breast cancer risk, we genotyped 433 male breast cancer cases and 1,569 controls. Five SNPs showed a statistically significant association with male breast cancer: rs13387042 (2q35) (odds ratio (OR) = 1.30, p = 7.98x10(-4)), rs10941679 (5p12) (OR = 1.26, p = 0.007), rs9383938 (6q25.1) (OR = 1.39, p = 0.004), rs2981579 (FGFR2) (OR = 1.18, p = 0.03), and rs3803662 (TOX3) (OR = 1.48, p = 4.04x10(-6)). Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs-rs13387042 (2q35), rs3803662 (TOX3), and rs6504950 (COX11)-showed significant differences in ORs (p < 0.05) between sexes. Breast cancer is a heterogeneous disease; the relative risks associated with loci identified to date show subtype and, based on these data, gender specificity. Additional studies of well-defined patient subgroups could provide further insight into the biological basis of breast cancer development.

引用

页数：4

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