Article

Population-based analysis of<i>POT1</i>variants in a cutaneous melanoma case-control cohort

2022-05-19

Abstract excerpt

Pathogenic germline variants in the protection of telomeres 1 gene ( POT1 ) have been associated with predisposition to a range of tumor types, including melanoma, glioma, leukemia and cardioangiosarcoma. We sequenced all coding exons of the POT1 gene in 2,929 European-descent melanoma cases and 3,298 controls, identifying 43 protein-changing genetic variants. We performed POT1-telomere binding assays for all miss...

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Literature Corpus work: fd312fa9-562c-5397-becc-0a6d00b39b67
DOI: 10.1101/2022.05.16.22274971

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