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Approved Research

A contemporary assessment of high-penetrance melanoma genes

Principal Investigator: Dr Peter Kanetsky
Approved Research ID: 52303
Approval date: August 7th 2020

Lay summary

Our current understanding of spectrum of disease outcomes associated with inherited genetic variation in major genes, including ACD, CDKN2A, CDK4, MITF, POT1, SLC45A2, TERF2IP, and TERT, that result in familial melanoma is limited.  We plan to use genotype and whole-exome sequencing data available in the UKBB resource to agnostically determine associations with other (non-melanoma) cancers and non-cancer phenotypes through linkage to cancer registry, hospital, and primary care files.  Results will be combined with those arising from parallel analyses in an independent large US data resource to identify top ranking genetically-associated cancers and non-cancer conditions.  Findings will be used to inform follow up of melanoma-prone families across the globe.