Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma.

ABSTRACT:

Background

Familial clustering of melanoma suggests a shared genetic predisposition among family members, but only 10%-40% of familial cases carry a pathogenic variant in a known high-risk melanoma susceptibility gene. We investigated whether a melanoma-specific Polygenic Risk Score (PRS) is associated with melanoma risk in patients with genetically unexplained familial melanoma.

Methods

Dutch familial melanoma cases (n=418) were genotyped for 46 SNPs previously identified as independently associated with melanoma risk. The 46-SNP PRS was calculated and standardised to 3423 healthy controls (sPRS) and the association between PRS and melanoma risk was modelled using logistic regression. Within the case series, possible differences were further explored by investigating the PR

SUBMITTER: Potjer TP 

PROVIDER: S-EPMC8551976 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature