Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosis.

ABSTRACT:

Background

Endometriosis is a common, chronic disease among fertile-aged women. Disease course may be highly invasive, requiring extensive surgery. The etiology of endometriosis remains elusive, though a high level of heritability is well established. Several low-penetrance predisposing loci have been identified, but high-risk susceptibility remains undetermined. Endometriosis is known to increase the risk of epithelial ovarian cancers, especially of endometrioid and clear cell types. Here, we have analyzed a Finnish family where four women have been diagnosed with surgically verified, severely symptomatic endometriosis and two of the patients also with high-grade serous carcinoma.

Results

Whole-exome sequencing revealed three rare candidate predisposing variants segregating

SUBMITTER: Nousiainen S 

PROVIDER: S-EPMC10546785 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature