Family pedigree pattern suggestive of germline ATM heterozygous carrier state in an asymp...

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

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

Походження тривожної ознаки

Визначення	Family pedigree pattern suggestive of germline ATM heterozygous carrier state in an asymptomatic individual who has NOT yet had multi-gene panel testing. Triggers include any of (a) first- or second-degree relative with a confirmed ATM pathogenic / likely- pathogenic variant; (b) family-history clustering of breast cancer AND pancreatic adenocarcinoma in close relatives (multi-cancer ATM-spectrum signal) — e.g., FDR with breast cancer + FDR/SDR with PDAC; (c) family history of pancreatic adenocarcinoma in ≥2 first/ second-degree relatives (ATM is the most common moderate-penetrance gene identified in familial PDAC kindreds); (d) presence of a sibling, parent, or child with confirmed homozygous Ataxia- Telangiectasia phenotype (implies both parents are obligate ATM heterozygotes; the at-risk individual has 50% prior probability of being a carrier and elevated cancer risk independent of t...
Клінічний напрям	investigate
Категорія	other

Логіка спрацьовування

{
  "any_of": [
    {
      "finding": "family_atm_known_pathogenic_variant",
      "value": true
    },
    {
      "finding": "family_breast_and_pancreatic_cluster",
      "value": true
    },
    {
      "finding": "family_pancreatic_two_or_more_first_or_second_degree",
      "value": true
    },
    {
      "finding": "family_homozygous_ataxia_telangiectasia_relative",
      "value": true
    }
  ],
  "type": "lab_value"
}

Нотатки

v0.3 Wave M suspicion variant — pre-testing family-history-suspicion counterpart to RF-ATM-CONFIRMED-CARRIER. Fires when family pedigree pattern suggests ATM carrier state but germline panel testing has not yet been completed. Standard pathway = referral for genetic counseling + multi-gene HBOC/PDAC-inclusive panel (covering BRCA1/2, PALB2, ATM, CHEK2, RAD51C/D, BRIP1 minimum; pancreatic-extended panels add CDKN2A, STK11, MLH1/MSH2/MSH6/PMS2). If panel returns positive for ATM, the patient transitions to the RF-ATM-CONFIRMED-CARRIER pathway (IND-ATM-CARRIER-PREVENTION- SURVEILLANCE for standard track). If panel returns negative for ATM but family history remains, empirical surveillance based on family-history alone is offered as the aggressive-track alternative. Distinct trigger findings from the confirmed-carrier RF (carrier RF fires on `germline_atm_pathogenic_variant_confirmed` / `germline_atm_likely_pathogenic_variant`; suspicion RF fires on family-history-based findings only) — engine cleanly routes one or the other based on testing status. STUB pending two-Clinical-Co- Lead signoff per CHARTER §6.1 dev-mode. Sources cite NCCN Genetic/ Familial High-Risk: Breast, Ovarian, and...

Де використовується

Indications

IND-ATM-SUSPICION-PREVENTION-EMPIRICAL-SURVEILLANCE - IND-ATM-SUSPICION-PREVENTION-EMPIRICAL-SURVEILLANCE
IND-ATM-SUSPICION-PREVENTION-TESTING - IND-ATM-SUSPICION-PREVENTION-TESTING