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Dyskeratosis congenita and the related telomere biology disorders are inherited conditions in which the protective ends of chromosomes are too short, causing bone marrow failure and a raised risk of leukaemia and of mouth and throat cancers. Regular blood counts, marrow checks and yearly mouth and throat examinations from age ten are recommended.
At least 18 genes with various inheritance: DKC1 (X-linked), RTEL1, TERT, TERC and TINF2 are the commoner ones. The classic triad is nail dystrophy, reticulated skin pigmentation and oral leukoplakia. About half develop severe bone marrow failure by 40; risk of MDS/AML and of head and neck squamous cell, anogenital and skin cancer starts in the late teens, with a cumulative incidence of solid tumours of 20 to 30% by 50, higher after transplant. Lymphocyte telomere length by flow-FISH helps diagnosis.
AACR 2024: for those with typical features, high-risk genes or very short telomeres, blood counts at least every six months and annual marrow examination to consider; an ear, nose and throat examination for premalignant lesions annually from age ten; dental review every six months. Less intensive care is reasonable for children with heterozygous variants in adult-onset genes.
In plain words · TERT (Telomerase reverse transcriptase) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Myeloproliferative neoplasms, Leukaemia, Lung cancer and 5 more.
Showing the target this term concerns: TERT.
Shares Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS), Hereditary cancer syndromes, Allogeneic stem cell transplantation, Myelodysplastic syndromes / neoplasms (MDS) and the tag hereditary.
Shares Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS), Hereditary cancer syndromes, Allogeneic stem cell transplantation, Myelodysplastic syndromes / neoplasms (MDS) and the tag hereditary.
Shares Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS), Hereditary cancer syndromes, Allogeneic stem cell transplantation, Myelodysplastic syndromes / neoplasms (MDS) and the tag hereditary.
Shares Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS), Hereditary cancer syndromes, Allogeneic stem cell transplantation, Myelodysplastic syndromes / neoplasms (MDS) and the tag hereditary.
Shares Hereditary cancer syndromes, Allogeneic stem cell transplantation, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing, Acute myeloid leukaemia and the tag hereditary.
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