Abstract
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 = 7.98×10−4), 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 = 4.04×10−6). 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.
Highlights
Breast cancer does not exclusively affect females
The CHEK2 1100delC variant has been found to give a 10-fold risk of male breast cancer independent of BRCA1 or BRCA2 [6]. Mutations in these genes are rare in the general population and it is likely that much of the genetic contribution to female breast cancer risk can be attributed to the co-inheritance of multiple low risk common variants [7]
457 cases of male breast cancer were recruited in a populationbased case-control study of the genetic, environmental and behavioral causes of male breast cancer being conducted in England and Wales
Summary
Breast cancer does not exclusively affect females. Around 300 men in the UK and 1,900 men in the US are diagnosed with the disease each year [1]. The CHEK2 1100delC variant has been found to give a 10-fold risk of male breast cancer independent of BRCA1 or BRCA2 [6]. Mutations in these genes are rare in the general population and it is likely that much of the genetic contribution to female breast cancer risk can be attributed to the co-inheritance of multiple low risk common variants [7]. Recent genome-wide association studies (GWAS) have shown associations between single nucleotide polymorphisms (SNPs) mapping to a dozen or more loci and female breast cancer risk in European populations, each conferring odds ratios (ORs) of 1.04–1.43 [8,9,10,11,12,13,14]. To explore the possibility that the same risk variants influence male breast cancer risk, we conducted a case-control study of male breast cancer, genotyping 12 SNPs annotating the loci that have the strongest and most consistent associations with female breast cancer
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
