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Population-based analysis of POT1 variants in a cutaneous melanoma case–control cohort
Article describes how 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 cardiac angiosarcoma. The authors sequenced all coding exons of the POT1 gene in 2928 European-descent melanoma cases and 3298 controls, identifying 43 protein-changing genetic variants.
Date:
December 20, 2022
Creator:
Simonin-Wilmer, Irving; Ossio, Raul; Leddin, Emmett M.; Harland, Mark; Pooley, Karen A.; Martil de la Garza, Mauricio Gerardo et al.
System:
The UNT Digital Library