Family pedigree pattern suggestive of germline CHEK2 heterozygous carrier state in an asy...

Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.

ID	`RF-CHEK2-FAMILY-HISTORY-SUSPICION`
Тип	Тривожна ознака
Статус	переглянуто 2026-05-19 \| очікує клінічного підпису
Хвороби	`DIS-BREAST` `DIS-CRC` `DIS-PROSTATE`
Джерела	`SRC-NCCN-BREAST-2025` `SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025` `SRC-NCCN-GENETIC-FAMILIAL-CRC-2025`

Походження тривожної ознаки

Визначення	Family 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...
Клінічний напрям	investigate
Категорія	other

Логіка спрацьовування

{
  "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"
}

Нотатки

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.

Де використовується

Indications

IND-CHEK2-SUSPICION-PREVENTION-EMPIRICAL-SURVEILLANCE - IND-CHEK2-SUSPICION-PREVENTION-EMPIRICAL-SURVEILLANCE
IND-CHEK2-SUSPICION-PREVENTION-TESTING - IND-CHEK2-SUSPICION-PREVENTION-TESTING