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Patrón pedigree familiar sugestivo de la línea germinativa CHEK2 estado portador heterozigoto en un asy...

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-FAMILY-HISTORY-SUSPICION
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

DefiniciónFamily pedigree pattern suggestive of germline CHEK2 heterozygous carrier state in an asymptomatic individual who has NOT yet had multi-gene panel testing. CHEK2 c.1100delC is one of the most common moderate-penetrance variants in European-ancestry populations (~1.5% carrier frequency). Triggers include any of (a) first- or second-degree relative with a confirmed CHEK2 pathogenic / likely- pathogenic variant (most commonly c.1100delC); (b) family-history cluster of breast cancer (moderate-penetrance ~RR 2-3) plus colorectal cancer in close relatives — a recognized CHEK2 multi- cancer signature; (c) family history of multiple high-grade prostate cancers (CHEK2 c.1100delC has documented high-grade / metastatic prostate enrichment); (d) Slavic/Baltic/Polish/Ashkenazi ancestry combined with personal or family history of breast, colorectal, prostate, or thyroid cancer — CHEK2 c.1100delC has...
Dirección clínicainvestigación
Categoríaotros

Lógica de activación

{
  "any_of": [
    {
      "finding": "family_chek2_known_pathogenic_variant",
      "value": true
    },
    {
      "finding": "family_breast_and_colorectal_cluster",
      "value": true
    },
    {
      "finding": "family_high_grade_prostate_multiple",
      "value": true
    },
    {
      "finding": "family_slavic_baltic_polish_ashkenazi_with_breast_or_crc_or_prostate",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notas

v0.3 Wave M suspicion variant — pre-testing family-history- suspicion counterpart to RF-CHEK2-CONFIRMED-CARRIER. Fires when family pedigree pattern suggests CHEK2 carrier state but germline panel testing has not yet been completed. Standard pathway = referral for genetic counseling + multi-gene panel testing covering BRCA1/2 + relevant moderate-penetrance genes (CHEK2 is on every HBOC panel; if CRC family history dominates, an expanded CRC-inclusive panel covering Lynch + APC + MUTYH should be ordered). If panel returns positive for CHEK2, the patient transitions to the RF-CHEK2-CONFIRMED-CARRIER pathway with variant-specific surveillance (truncating > splice > missense risk tiers). Distinct trigger findings from the confirmed- carrier RF (carrier RF fires on `germline_chek2_pathogenic_ variant_confirmed` / `germline_chek2_1100delc_confirmed`; suspicion RF fires on family-history-based findings only). STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode.

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