Article
Germline POT1 Variants: A Critical Perspective on POT1 Tumor Predisposition Syndrome
16 Jan 2024
Abstract excerpt
The Protection of Telomere 1 (POT1) gene was identified as a melanoma predisposition candidate nearly 10 years ago. Thereafter, various cancers have been proposed as associated with germline POT1 variants in the context of the so-called POT1 Predisposition Tumor Syndrome (POT1–TPD). While the key role, and related risks, of the alterations in POT1 in melanoma are established, the correlation between germline POT1...
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