CHEK2 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-CHEK2-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | CHEK2 germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "CHEK2", "gene_hugo_id": "HGNC:16627", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
CHEK2 germline — moderate-penetrance breast cancer risk (~2-3x baseline; lifetime ~20-25% in c.1100delC carriers). Less clear ovarian / colorectal signal. PARPi response weaker than BRCA/ATM. NCCN: enhanced breast screening (annual MRI from 40); no prophylactic mastectomy default. STUB pending two-Co-Lead signoff. Standalone entry complements composite BIO-ATM-CHEK2-CDK12-GERMLINE.
Used By
Biomarker
BIO-TP53-CHEK2-COMPOSITE- TP53 + CHEK2 composite germline risk panel