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鈥...
Germline POT1 Variants: A Critical Perspective on POT1 Tumor Predisposition Syndrome The Protection of Telomere 1 (POT1) gene was identified as a melanoma predisposition candidate nearly 10 years ago. Thereafter, various cancers have been p... V Andreotti,I Vanni,L Pastorino,... - 《Genes》 ...
Tumor Necrosis Factor Ligand Superfamily LigandSynonymsSize (aa)Receptor(s) TNFSF1 Lymphotoxin-α, LTA, TNFβ 205 As homotrimer: TNFRSF1A, TNFRSF1B and TNFRSF14; as heterotrimer with LTB, TNFRSF3 TNFSF2 TNFα , Cachectin 233 TNFRSF1A, TNFRSF1B TNFSF3 TNF-C, lymphotoxin β 244 LT...
Germline mutations in POT1 were recently shown to be associated with hereditary predisposition to melanoma. Our findings support a role of POT1 germline mutations in cancer predisposition beyond melanoma development, suggesting a broader phenotype of the POT1-associated tumor predisposition syndrome that ...