TP53 + CHEK2 composite germline risk panel
Vue déterministe de l'entité source de la LJAM. L'autorité clinique demeure avec les ID de la source cités et l'état d'approbation de l ́examinateur.
| ID | BIO-TP53-CHEK2-COMPOSITE |
|---|---|
| Type | Biomarqueur |
| Alias | Composé de l'EFT-CHEK2TP53 + panneau germinatif composite CHEK2TP53 + CHEK2 — композитна панель ризику зародкової лініїPanneau germinatif de la voie p53 |
| État | reviewed 2026-05-18 | pending_clinical_signoff |
| Maladies | Aucune déclaration |
| Sources | SRC-NCCN-BREAST-2025 SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025 |
Données biomarqueurs
| Type de biomarqueur | composite_score |
|---|---|
| Détails de la mutation | {"functional_impact": "loss_of_function (p53-pathway disruption)", "gene": "TP53, CHEK2", "variant_type": "germline pathogenic variants in either or both genes"} |
| Biomarqueurs connexes | BIO-TP53-GERMLINE BIO-CHEK2-GERMLINE |
Notes
Composite-panel concept used for risk-stratification when a multi-gene germline panel returns pathogenic variants in BOTH TP53 (Li-Fraumeni syndrome) and CHEK2 (moderate-risk breast/CRC predisposition), or to reflect joint p53-pathway disruption risk modeling. TP53 dominates the composite — Li-Fraumeni penetrance is high (lifetime cancer risk ~70-90% by age 70, with sarcoma, breast, brain, adrenocortical, leukemia spectrum), so management follows TP53 protocol (Toronto / Chompret / modified-Chompret criteria; annual whole-body MRI + breast MRI from age 20-25; AVOID ionizing radiation as therapeutic adjuvant whenever oncologically feasible). CHEK2 (1100delC most common pathogenic variant; carrier frequency ~1% European populations) confers moderate breast cancer risk (~2-3x baseline, lifetime ~28-37%) and modest CRC risk. Co-occurrence is rare but described — surveillance follows the HIGHER-risk gene (TP53 dominates). Counseling note: many panels also return CHEK2 variants of uncertain significance; clinical action requires ACMG/AMP-classified pathogenic or likely-pathogenic call. Composite entry exists to support panel-result aggregation in algorithm logic (not a single-variant lo...
Utilisé par
No reverse references found in the YAML corpus.