Onco Wiki / Bandera roja

Variante monoallénica patogénica / patogénica probable confirmada en CHEK2. La mayoría de comm...

Vista determinista de la entidad fuente YAML. La autoridad clínica sigue con los ID de fuente citados y estado de firma del revisor.

IDRF-CHEK2-CONFIRMED-CARRIER
TipoSeñal de alerta
Situaciónreviewed 2026-05-19 | pending_clinical_signoff
EnfermedadesDIS-BREAST DIS-CRC DIS-PROSTATE
FuentesSRC-NCCN-BREAST-2025 SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025 SRC-NCCN-GENETIC-FAMILIAL-CRC-2025

Origen de la bandera roja

DefiniciónConfirmed germline pathogenic / likely-pathogenic monoallelic variant in CHEK2. Most common population variant is c.1100delC truncating loss-of-function (~1.5% European population frequency); other pathogenic variants include c.444+1G>A (splice), p.Ile157Thr (missense with modest effect), and large deletions. Heterozygous CHEK2 carriers have moderate-penetrance breast cancer risk (RR ~2.0-3.0; lifetime ~20-30% for truncating variants, lower for missense), modest CRC risk (RR ~1.5-2.0; lifetime ~5-10% over baseline), prostate cancer (RR ~2-3 with high-grade enrichment for c.1100delC), thyroid cancer (smaller signal). Most common moderate-penetrance variant in multi- gene panels among European-ancestry cohorts. Patient has confirmed positive germline test; no current personal cancer diagnosis in the carrier being assessed. Prevention-persona RedFlag (§20, v0.3 moderate-penetrance breast g...
Dirección clínicainvestigación
Categoríaotros

Lógica de activación

{
  "any_of": [
    {
      "finding": "germline_chek2_pathogenic_variant_confirmed",
      "value": true
    },
    {
      "finding": "germline_chek2_1100delc_confirmed",
      "value": true
    },
    {
      "finding": "germline_chek2_likely_pathogenic_variant",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notas

Prevention-persona RedFlag for CHEK2 heterozygous carriers. Risk estimates vary substantially by variant: truncating > splice > missense. Engine routes to enhanced breast surveillance (annual mammography from age 40 + MRI consideration), modestly tightened CRC screening (colonoscopy from age 40 with q5y interval per NCCN), and prostate awareness from age 40-45 for males with c.1100delC. STUB pending two-Co-Lead signoff per CHARTER §6.1 dev-mode.

Utilizado por

Indicación

Señal de alerta