Germline ATM / CHEK2 / CDK12 pathogenic variant (HRR/DDR composite)

Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.

ID	`BIO-ATM-CHEK2-CDK12-GERMLINE`
Type	Biomarker
Aliases	Germline ATM, CHEK2, or CDK12 mutationgATMgCDK12gCHEK2non-BRCA HRR germlineЗародкові патогенні варіанти ATM / CHEK2 / CDK12 (DDR-композит)
Status	reviewed 2026-04-29 \| pending_clinical_signoff
Diseases	None declared
Sources	`SRC-CIVIC` `SRC-NCCN-BREAST-2025` `SRC-NCCN-PANCREATIC-2025` `SRC-NCCN-PROSTATE-2025` `SRC-PROFOUND-DEBONO-2020`

Biomarker Facts

Biomarker type	gene_mutation
Mutation details	{"functional_impact": "DNA damage response / HRR pathway compromise", "gene": "ATM, CHEK2, CDK12", "inheritance": "germline", "variant_type": "loss-of-function (frameshift, nonsense, splice, deletions); CHEK2 c.1100delC most common founder allele"}
Measurement	MethodGermline multi-gene hereditary-cancer NGS panel on whole blood or saliva. CHEK2 c.1100delC requires explicit panel coverage (some panels miss it). Unitscategorical: pathogenic \| likely_pathogenic \| VUS \| benign \| absent
Related biomarkers	`BIO-BRCA-GERMLINE` `BIO-BRCA1-BRCA2-GERMLINE` `BIO-BRCA-SOMATIC` `BIO-PALB2-GERMLINE`

Notes

Authored as composite (vs three separate biomarkers) per chunk schema-readout: NCCN orders these on the same hereditary panel and reports them together; 1:1:1 split would create three near-identical files. If downstream rules need gene-specific behavior (likely for CDK12, whose biology diverges), split this entry then — the composite is a v0.1 grouping, not a permanent decision. Track the split in roadmap if/when MDT requests it.

Used By

Biomarker

BIO-BRCA-SOMATIC - Somatic BRCA1/BRCA2 pathogenic variant
BIO-PALB2-GERMLINE - Germline PALB2 pathogenic variant

Red flag

RF-PAN-ATM-CHEK2-CDK12-PARPI-CANDIDATE - Germline pathogenic variant in ATM, CHEK2, or CDK12 (composite HRR-pathway RF). Disease-s...