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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 band 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 linkage disequilibrium (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 possible epidemiological 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.
How do breast sizes typically vary across races, ethnicities, cultures, and/or nations? - Quora
DNA Methylation Patterns in Normal Tissue Correlate more Strongly with Breast Cancer Status than Copy-Number Variants - ScienceDirect
Stereotypical and Actual Associations of Breast Size with Mating-Relevant Traits
Evaluation of SNPs associated with mammographic density in European women with mammographic density in Asian women from South-East Asia
Medicina, Free Full-Text
IJERPH, Free Full-Text
The genetic interplay between body mass index, breast size and breast cancer risk: a Mendelian randomization analysis. - Abstract - Europe PMC
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Breast Cancer Risk Gene Discovery: Opportunities and Challenges
Why have some women evolved to have very large breasts, such as in the 'F' and 'G' cup size, while other women have barely anything in an 'A' or less size?
Deciphering how early life adiposity influences breast cancer risk using Mendelian randomization
Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs
Frontiers Look how far we have come: BREAST cancer detection education on the international stage
