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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.
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.
AACR 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.
In plain words · BLM (RecQ-like DNA helicase BLM) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Leukaemia, Colorectal cancer, Breast cancer and 4 more.
Showing the target this term concerns: BLM.
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Shares Colonoscopy, Hereditary cancer syndromes, Germline (hereditary) testing, Colorectal cancer and the tag hereditary.
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