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Article

Population-based analysis of POT1 variants in a cutaneous melanoma case–control cohort

20 Dec 2022

Abstract excerpt

Pathogenic germline variants in the protection of telomeres 1 gene (POT1) have been associated with predisposition to a range of tumour types, including melanoma, glioma, leukaemia and cardiac angiosarcoma. We sequenced all coding exons of the POT1 gene in 2928 European-descent melanoma cases and 3298 controls, identifying 43 protein-changing genetic variants. We performed POT1-telomere binding assays for all...

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Identifiers

PMID: 36539277
DOI: 10.1136/jmg-2022-108776

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