Genetic variants associated with breast size also influence breast

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.

Genome-wide association study of treatment-related toxicity two years following radiotherapy for breast cancer - ScienceDirect

Epigenetics - Wikipedia

Evaluation of SNPs associated with mammographic density in European women with mammographic density in Asian women from South-East Asia

Discovery and Characterization of Cancer Genetic Susceptibility Alleles

From genetic variation to precision medicine, Cambridge Prisms: Precision Medicine

PDF) Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes, and glucose homeostasis

Breast cancer: Why we need to understand breast cancer risk

Cancers, Free Full-Text

Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size. - Abstract - Europe PMC

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Frontiers Rates of Variants of Uncertain Significance Among Patients With Breast Cancer Undergoing Genetic Testing: Regional Perspectives

Breast Augmentation B To C Cup - Dr Mark Duncan-Smith

Human milk variation is shaped by maternal genetics and impacts the infant gut microbiome