EGAS00001006870-sc-2023-01-03T15:04:47Z - samples

ABSTRACT: 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 functional studies on each of these variants and explored their possible contribution to disease risk.

PROVIDER: EGAD00001009848 | EGA |

REPOSITORIES: EGA