Association between genetic polymorphisms and endometrial cancer risk: a systematic review

Single nucleotide polymorphisms (SNPs) are differences in single building blocks of DNA between individuals. Hundreds of SNPs have been shown to influence susceptibility to disease and response to treatment. In this paper, we systematically reviewed the literature to identify SNPs that contribute to endometrial cancer risk. We report 24 SNPs of highest significance, and no indication of an association for a widely studied MDM2 SNP (rs2279744). We combined these 24 SNPs to generate a theoretical polygenic risk score for endometrial cancer and found that the predicted risk of a woman in the top 1% of the distribution was nearly 3.2 times higher than that of an average scoring woman. A polygenic risk score could allow personalized risk prediction models to be developed for targeted screening and prevention strategies for women at greatest risk of endometrial cancer. (By Dr. Emma Crosbie, https://jmg.bmj.com/content/early/2020/01/12/jmedgenet-2019-106529 )

(Visited 102 times, 1 visits today)