5 (588) In stock
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.
2012 in science - Wikipedia
How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?, BMC Medical Genomics
ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome in: Endocrine Connections Volume 8 Issue 11 (2019)
The genetic ancestry of African, Latino, and European Americans across the United States
BREAST CANCER RISK: 12 COMMON MISCONCEPTIONS AND CONTROVERSIES
Cancers, Free Full-Text
BRCA2 Variants of Uncertain Significance
The genetic ancestry of African, Latino, and European Americans across the United States
A network analysis to identify mediators of germline-driven differences in breast cancer prognosis
Why are breasts different sizes?
知乎日报- 知乎
Frontiers Diet and Transgenerational Epigenetic Inheritance of Breast Cancer: The Role of the Paternal Germline
Stereotypical and Actual Associations of Breast Size with Mating-Relevant Traits
2012 in science - Wikipedia
BRCA1/2 variants of unknown significance in hereditary breast and ovarian cancer (HBOC) syndrome: Looking for the hidden meaning - ScienceDirect
