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Fanconi anaemia is a rare inherited condition in which DNA repair fails, so the bone marrow usually stops working in childhood and the risk of leukaemia and of mouth and throat cancers is very high. Regular blood and marrow checks guide the timing of a stem cell transplant, and mouth checks start at age ten.
Mostly autosomal recessive (FA-B is X-linked, FA-R dominant); 21 genes in the FA-BRCA interstrand cross-link repair pathway, FANCA in 60 to 70%, FANCC 10 to 14%, FANCG 8 to 10%. Diagnosis by chromosome breakage with diepoxybutane or mitomycin C plus sequencing. Over 95% develop bone marrow failure; by 50 the cumulative incidence of MDS, leukaemia and solid tumours is about 50%, 10% and 20 to 30%, with head and neck squamous cell carcinoma the main solid tumour. FANCD1/BRCA2 and FANCN/PALB2 carry early brain tumours and Wilms tumour.
AACR 2024: blood count every three to six months and bone marrow at least annually from diagnosis (from after the third birthday in FA-A, FA-C and FA-G), with somatic gene panels; head and neck examination every six months from age ten; no alcohol or tobacco. Haematopoietic cell transplantation is the curative treatment for severe marrow failure, with its timing and conditioning set by FA specialists, and lifelong follow-up for second cancers. The Fanconi Anemia Research Fund publishes clinical care guidelines.
In plain words · FANCA (Fanconi anaemia group A protein) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Skin cancer, Ovarian cancer and 5 more.
Showing the target this term concerns: FANCA.
Shares Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS), Allogeneic stem cell transplantation, Hereditary cancer syndromes, Myelodysplastic syndromes / neoplasms (MDS) and the tag hereditary.
Shares Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS), Allogeneic stem cell transplantation, Hereditary cancer syndromes, Myelodysplastic syndromes / neoplasms (MDS) and the tag hereditary.
Shares Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS), Allogeneic stem cell transplantation, Hereditary cancer syndromes, Myelodysplastic syndromes / neoplasms (MDS) and the tag hereditary.
Shares Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS), Allogeneic stem cell transplantation, Hereditary cancer syndromes, Myelodysplastic syndromes / neoplasms (MDS) and the tag hereditary.
Shares Allogeneic stem cell transplantation, Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing, Acute myeloid leukaemia 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.
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