BLM keimlinienbiallelic pathogene Varianten
Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.
| ID | BIO-BLM-GERMLINE |
|---|---|
| Art | Biomarker |
| Aliase | BLM keimbahnpathogene Variante (biallelic)BLM germline біалельні патогенні варіанти |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Erkrankungen | DIS-CRC |
| Quellen | SRC-NCCN-PEDIATRIC-SARCOMA |
Biomarker-Fakten
| Biomarker-Typ | gene_mutation |
|---|---|
| Angaben zur Mutation | {"functional_impact": "loss_of_function", "gene": "BLM", "gene_hugo_id": "HGNC:1058", "variant_type": "missense_or_truncating"} |
| Verwandte Biomarker | None declared |
Anmerkungen
BLM germline biallelic — drives Bloom syndrome (autosomal recessive). RecQ helicase deficiency → genomic instability with elevated sister-chromatid exchanges (diagnostic). Broad cancer susceptibility: leukemias / lymphomas (childhood), CRC, breast, skin, head/neck, others. Non-cancer: short stature, photosensitive facial erythema, immunodeficiency, diabetes. Common in Ashkenazi-Jewish ancestry (founder variant blmAsh). Heterozygotes may have modestly elevated CRC risk. STUB pending two-Co-Lead signoff.
Verwendet von
Therapeutische Relevanz
BMA-BLM-GERMLINE-BLOOM-BROAD- BLM keimlinie biallelic pathogene Varianten verursachen Bloom-Syndrom — autosomal-rezessive dis...