{"entity":{"id":"bloom-syndrome","kind":"term","name":"Bloom syndrome","aka":["BLM syndrome"],"tldr":"Bloom syndrome is a rare inherited condition, caused by two faulty copies of the BLM gene, that causes small stature, a sun-sensitive facial rash and a high risk of many cancers from childhood. Colonoscopy from age 10 to 12, sun protection and care at a specialist centre are recommended, and cancer treatment has to be adapted.","summary":"Autosomal recessive, biallelic variants in the RecQ helicase gene BLM; increased sister chromatid exchange is characteristic. An Ashkenazi Jewish founder variant is known. Cumulative incidence of any cancer is 52% by 30 and 82.5% by 40; haematological cancers (ALL, AML, lymphoma) are about a third, gastrointestinal tumours second, and oropharyngeal, breast, skin cancer and Wilms tumour also occur.\n\nAACR 2024: at least annual clinical assessment and education about leukaemia and Wilms tumour symptoms; routine whole-body MRI and Wilms tumour ultrasound are no longer recommended; colonoscopy from 10 to 12, because some develop polyps before cancer and the youngest colorectal cancer was at 16; dose-reduced, alkylator-sparing chemotherapy; avoiding radiation; sun protection and an annual skin check.","asOf":"2026-11-04","wikipedia":"https://en.wikipedia.org/wiki/Bloom_syndrome","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":"Orphanet ORPHA:125","url":"https://www.orpha.net/en/disease/detail/125"},{"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":["colorectal","all-leukemia","aml"],"sections":[],"technologies":["germline-testing"],"targets":["blm"],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["colonoscopy","hereditary-cancer-syndromes"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["NHS England genomic test directory: R229, confirmed Fanconi anaemia or Bloom syndrome. Orphanet ORPHA:125."],"category":"Genomics & genetics"},"route":"/terms/bloom-syndrome/","neighbours":{"cancer":[{"id":"all-leukemia","kind":"cancer","name":"Acute lymphoblastic leukaemia","route":"/cancers/all-leukemia/"},{"id":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"}],"technology":[{"id":"germline-testing","kind":"technology","name":"Germline (hereditary) testing","route":"/technologies/germline-testing/"}],"target":[{"id":"blm","kind":"target","name":"BLM","route":"/targets/blm/"}],"term":[{"id":"colonoscopy","kind":"term","name":"Colonoscopy","route":"/terms/colonoscopy/"},{"id":"hereditary-cancer-syndromes","kind":"term","name":"Hereditary cancer syndromes","route":"/terms/hereditary-cancer-syndromes/"},{"id":"germline-all-predisposition","kind":"term","name":"Inherited susceptibility to acute lymphoblastic leukaemia (PAX5, ETV6, IKZF1)","route":"/terms/germline-all-predisposition/"}],"drug":[{"id":"helix-hereditary-cancer","kind":"drug","name":"Helix Hereditary Comprehensive Cancer Panel","route":"/drugs/helix-hereditary-cancer/"},{"id":"invitae-multi-cancer-panel","kind":"drug","name":"Invitae Multi-Cancer Panel","route":"/drugs/invitae-multi-cancer-panel/"}]}}