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Padrão pedigree familiar sugestivo de germe PALB2 estado heterozigota portador em um...

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IDRF-PALB2-FAMILY-HISTORY-SUSPICION
TipoSinal de alerta
Estadoreviewed 2026-05-19 | pending_clinical_signoff
DoençasDIS-BREAST DIS-OVARIAN DIS-PDAC
FontesSRC-NCCN-BREAST-2025 SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025

Origem da bandeira vermelha

DefiniçãoFamily pedigree pattern suggestive of germline PALB2 heterozygous carrier state in an asymptomatic individual who has NOT yet had multi-gene panel testing. PALB2 functions in the same homologous- recombination repair pathway as BRCA1/BRCA2, and carriers approach BRCA2 breast-cancer penetrance (lifetime ~33-58%). Triggers include any of (a) first- or second-degree relative with a confirmed PALB2 pathogenic / likely-pathogenic variant; (b) family-history pattern resembling BRCA-style HBOC but with negative BRCA1/2 testing in affected relative (PALB2 is the most common moderate-penetrance finding in BRCA-negative BRCA-like pedigrees); (c) family history of pancreatic adenocarcinoma in ≥2 first/second-degree relatives combined with breast cancer in a close relative — PALB2 is the second most-common gene (after BRCA2) identified in familial PDAC-breast kindreds; (d) early-onset (<50y) breast...
Direcção clínicainvestigar
CategoriaOutros

Lógica de Desencadeamento

{
  "any_of": [
    {
      "finding": "family_palb2_known_pathogenic_variant",
      "value": true
    },
    {
      "finding": "family_brca_like_pedigree_brca_negative",
      "value": true
    },
    {
      "finding": "family_breast_and_pancreatic_cluster",
      "value": true
    },
    {
      "finding": "family_early_onset_breast_brca_negative",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notas

v0.3 Wave M suspicion variant — pre-testing family-history- suspicion counterpart to RF-PALB2-CONFIRMED-CARRIER. Fires when family pedigree pattern suggests PALB2 carrier state but germline panel testing has not yet been completed. Standard pathway = referral for genetic counseling + multi-gene HBOC/PDAC-inclusive panel. If panel returns positive for PALB2, the patient transitions to the RF-PALB2-CONFIRMED-CARRIER pathway (IND-PALB2-CARRIER- PREVENTION-SURVEILLANCE for standard track — BRCA-style management given near-BRCA2 penetrance: annual breast MRI + mammography from age 30, pancreatic surveillance for FDR-of-PDAC carriers, RRSO discussion deferred to BRCA-style threshold given lower ovarian penetrance). Distinct trigger findings from the confirmed-carrier RF (carrier RF fires on `germline_palb2_pathogenic_variant_ confirmed`; suspicion RF fires on family-history-based findings only). STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode. Sources cite NCCN Genetic/Familial High-Risk: Breast, Ovarian, and Pancreatic v2.2025 PALB2 testing criteria + Yang et al. JCO 2020 lifetime risk estimates.

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