{"entity":{"id":"fanconi-anaemia","kind":"term","name":"Fanconi anaemia","aka":["Fanconi anemia","FA"],"tldr":"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.","summary":"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.\n\nAACR 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.","asOf":"2026-11-04","wikipedia":"https://en.wikipedia.org/wiki/Fanconi_anemia","links":[{"label":"Nakano, Clin Cancer Res 2024: cancer screening in children with genomic instability disorders (AACR update)","url":"https://doi.org/10.1158/1078-0432.ccr-24-1098"},{"label":"Maese, Clin Cancer Res 2024: surveillance for children with predisposition to haematopoietic malignancy (AACR update)","url":"https://doi.org/10.1158/1078-0432.ccr-24-0685"},{"label":"Orphanet ORPHA:84","url":"https://www.orpha.net/en/disease/detail/84"},{"label":"NHS England National Genomic Test Directory, rare and inherited disease, version 9 (spreadsheet)","url":"https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-and-inherited-disease-national-genomics-test-directory-v9.xlsx"}],"tags":["gap-fill","hereditary"],"related":[],"cancers":["mds","aml","head-and-neck"],"sections":[],"technologies":["allogeneic-hsct","germline-testing"],"targets":["fanca","fancc","fancg","brca","palb2"],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["hereditary-cancer-syndromes"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["NHS England genomic test directory: R229 (confirmed Fanconi anaemia or Bloom syndrome) and R260 (chromosome breakage testing). Orphanet ORPHA:84."],"category":"Genomics & genetics"},"route":"/terms/fanconi-anaemia/","neighbours":{"cancer":[{"id":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"},{"id":"head-and-neck","kind":"cancer","name":"Head and neck squamous cell carcinoma","route":"/cancers/head-and-neck/"},{"id":"mds","kind":"cancer","name":"Myelodysplastic syndromes / neoplasms (MDS)","route":"/cancers/mds/"}],"technology":[{"id":"allogeneic-hsct","kind":"technology","name":"Allogeneic stem cell transplantation","route":"/technologies/allogeneic-hsct/"},{"id":"germline-testing","kind":"technology","name":"Germline (hereditary) testing","route":"/technologies/germline-testing/"}],"target":[{"id":"brca","kind":"target","name":"BRCA1 / BRCA2 (HRD)","route":"/targets/brca/"},{"id":"fanca","kind":"target","name":"FANCA","route":"/targets/fanca/"},{"id":"fancc","kind":"target","name":"FANCC","route":"/targets/fancc/"},{"id":"fancg","kind":"target","name":"FANCG","route":"/targets/fancg/"},{"id":"palb2","kind":"target","name":"PALB2","route":"/targets/palb2/"}],"term":[{"id":"germline-myeloid-predisposition","kind":"term","name":"Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS)","route":"/terms/germline-myeloid-predisposition/"},{"id":"hereditary-cancer-syndromes","kind":"term","name":"Hereditary cancer syndromes","route":"/terms/hereditary-cancer-syndromes/"}]}}