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 (s... Mehr ...

Verfasser: Potjer, Thomas P
van der Grinten, Tara W J
Lakeman, Inge M M
Bollen, Sander H
Rodríguez-Girondo, Mar
Iles, Mark M
Barrett, Jennifer H
Kiemeney, Lambertus A
Gruis, Nelleke A
van Asperen, Christi J
van der Stoep, Nienke
Dokumenttyp: Artikel
Erscheinungsdatum: 2020
Reihe/Periodikum: Journal of Medical Genetics ; volume 58, issue 11, page 760-766 ; ISSN 0022-2593 1468-6244
Verlag/Hrsg.: BMJ
Schlagwörter: Genetics (clinical) / Genetics
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-27044084
Datenquelle: BASE; Originalkatalog
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Link(s) : http://dx.doi.org/10.1136/jmedgenet-2020-107251