Endometrial Cancer Study Identifies 24 Variants Linked to Disease Predisposition

Researchers at the University of Manchester and the University of Cambridge in the UK have identified 24 genetic variants significantly associated with predisposition to endometrial cancer.

In a study published on Monday in the Journal of Medical Genetics, the researchers reported that they identified SNPs in HNF1B, KLF, EIF2AK, CYP19A1, SOX4, and MYC, which are all genes involved in cell survival, estrogen metabolism, and transcriptional control. Nineteen of the variants were reported with genome-wide significance and the other five were reported with suggestive significance. “Because many of the studies carried out to date have been of variable quality, we felt it was important to understand more fully genetic predispositions to endometrial cancer,” University of Manchester Professor Emma Crosbie, the paper’s senior author, said in a statement. “Our work, we hope, will facilitate personalized risk assessment so that prevention and screening could be targeted more efficiently.” The researchers undertook a systematic review of the literature to provide an overview of the relationship between SNPs and endometrial cancer risk. They searched the MEDLINE, Embase, and Cumulative Index to Nursing and Allied Health Literature (CINAHL) databases for endometrial cancer studies published from 2007 to 2019. After various screening efforts, they were left with 149 articles.

https://jmg.bmj.com/content/early/2020/01/12/jmedgenet-2019-106529