ATM germline pathogenic confers ~2× lifetime breast-cancer risk; no PARPi indication (TBC...
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BMA-ATM-GERMLINE-BREAST |
|---|---|
| Type | Actionability |
| Status | reviewed 2026-04-27 | pending_clinical_signoff | actionability review required |
| Diseases | DIS-BREAST |
| Sources | SRC-CIVIC SRC-ESMO-BREAST-METASTATIC-2024 SRC-NCCN-BREAST-2025 |
Actionability Facts
| Biomarker | BIO-HRR-PANEL |
|---|---|
| Variant | ATM germline pathogenic |
| Disease | DIS-BREAST |
| ESCAT tier | IIA |
| Recommended combinations | standard breast therapy by HR/HER2, enhanced screening (annual MRI) |
| Contraindicated monotherapy | PARPi monotherapy (limited activity in ATM-only) |
| Evidence summary | ATM germline pathogenic confers ~2× lifetime breast-cancer risk; no PARPi indication (TBCRC-048 ATM cohort showed minimal activity). Standard breast- cancer therapy by ER/HER2 status. ESCAT IIA (predisposition) / OncoKB Level 3A. Avoid radiotherapy in homozygous/biallelic ATM (radiosensitivity). |
Notes
Heterozygous ATM is the typical breast-cancer scenario; homozygous = ataxia- telangiectasia (avoid ionizing radiation, including diagnostic CT when possible). Cascade testing mandatory.
Used By
No reverse references found in the YAML corpus.