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- Title
Genetic variants associated with breast size also influence breast cancer risk.
- Authors
Eriksson, Nicholas; Benton, Geoffrey M.; Do, Chuong B.; Kiefer, Amy K.; Mountain, Joanna L.; Hinds, David A.; Francke, Uta; Tung, Joyce Y.
- Abstract
Background: While some factors of breast morphology, such as density, are directly implicated in breast cancer, the relationship between breast size and cancer is less clear. Breast size is moderately heritable, yet the genetic variants leading to differences in breast size have not been identified.Methods: To investigate the genetic factors underlying breast size, we conducted a genome-wide association study(GWAS) of self-reported bra cup size, controlling for age, genetic ancestry, breast surgeries, pregnancy history and bra brand size, in a cohort of 16,175 women of European ancestry.Results: We identified seven single-nucleotide polymorphisms (SNPs) significantly associated with breast size(p < 5 · 10-8): rs7816345 near ZNF703, rs4849887 and (independently) rs17625845 flanking INHBB, rs12173570 near ESR1, rs7089814 in ZNF365, rs12371778 near PTHLH, and rs62314947 near AREG. Two of these seven SNPs are in linkagedisequilibrium (LD) with SNPs associated with breast cancer (those near ESR1 and PTHLH), and a third (ZNF365) is near,but not in LD with, a breast cancer SNP. The other three loci (ZNF703, INHBB, and AREG) have strong links to breast cancer, estrogen regulation, and breast development.Conclusions: These results provide insight into the genetic factors underlying normal breast development and show that some of these factors are shared with breast cancer. While these results do not directly support any possibleepidemiological relationships between breast size and cancer, this study may contribute to a better understanding of the subtle interactions between breast morphology and breast cancer risk.
- Subjects
HUMAN genetic variation; BREAST cancer; BIOLOGICAL variation; GENETIC polymorphisms; GENETIC research
- Publication
BMC Medical Genetics, 2012, Vol 13, Issue 1, p53
- ISSN
1471-2350
- Publication type
Article
- DOI
10.1186/1471-2350-13-53