Rare germline genetic variation in PAX8 transcription factor binding sites and susceptibility to epithelial ovarian cancer.

ABSTRACT: Common genetic variation throughout the genome and rare coding variants identified to date explain about half of the inherited genetic component of epithelial ovarian cancer risk. It is likely that rare variation in the noncoding genome will explain some of the unexplained heritability, but identifying such variants is challenging. The primary problem is a lack of statistical power to identify individual risk variants by association, as power is a function of sample size, effect size, and allele frequency. Power can be increased by using burden tests, which test for the association of carriers of any variant in a specified genomic region. This has the effect of increasing the putative effect allele frequency. PAX8 is a transcription factor that plays a critical role in tumor progression, m

SUBMITTER: Ezquina SAM 

PROVIDER: S-EPMC11978604 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature