Melanoma
Gene: POT1
Tumor predisposition syndrome-3 (TPDS3) is characterised by an increased risk for the development of various types of benign and malignant neoplasms throughout life, with age-dependent penetrance (e.g. neoplasms involving epithelial, mesenchymal, and neuronal tissues, as well as clonal hematopoietic syndromes, including lymphoid and myeloid cancers).
Cutaneous melanoma is the most commonly reported malignancy in individuals with POT1-Tumor predisposition syndrome (increased risk for various benign and malignant neoplasms throughout life, with age-dependent penetrance - neoplasms involving epithelial, mesenchymal, and neuronal tissues, as well as clonal hematopoietic syndromes, including lymphoid and myeloid cancers). Multiple unrelated families reported with melanoma and POT1 variant.
Sources: Expert Review, LiteratureCreated: 12 Sep 2024, 3:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Melanoma, MONDO:0005105; Tumor predisposition syndrome 3, MONDO:0014368; Melanoma, cutaneous malignant, MIM#606478
Publications
Gene: pot1 has been classified as Green List (High Evidence).
Publications for gene: POT1 were set to PMID: 24686849, 30586141, 24686846, 38724174
Gene: pot1 has been classified as Green List (High Evidence).
Gene: pot1 has been classified as Amber List (Moderate Evidence).
Gene: pot1 has been classified as Green List (High Evidence).
gene: POT1 was added gene: POT1 was added to Melanoma. Sources: Expert Review,Literature Mode of inheritance for gene: POT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POT1 were set to PMID: 24686849, 30586141, 24686846, 38724174 Phenotypes for gene: POT1 were set to Melanoma, MONDO:0005105; Tumor predisposition syndrome 3, MONDO:0014368; Melanoma, cutaneous malignant, MIM#606478 Review for gene: POT1 was set to GREEN