ATM germline pathogenic variant
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-ATM-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | ATM germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025 SRC-NCCN-PANCREATIC-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "ATM", "gene_hugo_id": "HGNC:795", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
ATM germline — moderate-penetrance breast cancer risk (~20-30% lifetime), pancreatic ductal adenocarcinoma elevated ~5-9x, prostate cancer elevated. Biallelic = ataxia-telangiectasia (autosomal recessive). PROfound cohort A (with BRCA1/2) showed PARPi benefit in mCRPC. NCCN: enhanced breast screening + pancreatic surveillance if family history. STUB pending two-Co-Lead signoff. Standalone entry complements composite BIO-ATM-CHEK2-CDK12-GERMLINE.
Used By
No reverse references found in the YAML corpus.