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

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... Mehr ...

Verfasser: Potjer, TP
van der Grinten, TWJ
Lakeman, IMM
Bollen, SH
Rodríguez-Girondo, M
Iles, MM
Barrett, JH
Kiemeney, LA
Gruis, NA
van Asperen, CJ
van der Stoep, N
Dokumenttyp: Artikel
Erscheinungsdatum: 2021
Verlag/Hrsg.: BMJ
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-26635828
Datenquelle: BASE; Originalkatalog
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Link(s) : https://eprints.whiterose.ac.uk/166730/