TP53 + painel de risco de germina composta CHEK2
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| ID | BIO-TP53-CHEK2-COMPOSITE |
|---|---|
| Tipo | Biomarcador |
| Alegais | LFS-CHEK2 compostoTP53 + painel germinal composto CHEK2TP53 + CHEK2 — композитна панель ризику зародкової лініїpainel germinativo de trajeto p53 |
| Estado | reviewed 2026-05-18 | pending_clinical_signoff |
| Doenças | Nenhuma declaração |
| Fontes | SRC-NCCN-BREAST-2025 SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025 |
Fatos de biomarcadores
| Tipo de biomarcador | composite_score |
|---|---|
| Detalhes da mutação | {"functional_impact": "loss_of_function (p53-pathway disruption)", "gene": "TP53, CHEK2", "variant_type": "germline pathogenic variants in either or both genes"} |
| Biomarcadores relacionados | BIO-TP53-GERMLINE BIO-CHEK2-GERMLINE |
Notas
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...
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