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Patrón pedigree familiar sugestivo de la línea germinal ATM estado portador heterozigotos en un asin...

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

IDRF-ATM-FAMILY-HISTORY-SUSPICION
TipoSeñal de alerta
Situaciónreviewed 2026-05-19 | pending_clinical_signoff
EnfermedadesDIS-BREAST DIS-PDAC DIS-PROSTATE
FuentesSRC-NCCN-BREAST-2025 SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025

Origen de la bandera roja

DefiniciónFamily 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...
Dirección clínicainvestigación
Categoríaotros

Lógica de activación

{
  "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"
}

Notas

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...

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