Article
Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma.
Journal of medical genetics - 1 Nov 2021
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
Abstract excerpt
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...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Female
- Genetic Predisposition to Disease
- Humans
- Male
- Melanoma
- Microphthalmia-Associated Transcription Factor