A new POT1 germline mutation —expanding the spectrum of POT1 -associated cancers

We present a large family with several family members affected with primary melanomas and dysplastic nevi as well as thyroid cancer and other malignant tumors. Clinical work-up did not reveal a mutation in any of the genes usually considered with evaluation for predisposition to melanoma (BRCA1/2, CDKN2A, CDK4, PTEN, TP53). Whole exome sequencing of five affected family members showed a new variant inPOT1. POT1 is associated with the telomere shelterin complex that regulates telomere protection and telomerase access. Germline mutations inPOT1 were recently shown to be associated with hereditary predisposition to melanoma. Our findings support a role ofPOT1 germline mutations in cancer predisposition beyond melanoma development, suggesting a broader phenotype of thePOT1-associated tumor predisposition syndrome that might also include thyroid cancer as well as possibly other malignant tumors.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research