Onco Wiki / Bandera roja

Germline PALB2 variante patógena — el compañero de reclutamiento de BRCA2; LOF biallélico produce...

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

IDRF-PAN-PALB2-PARPI-CANDIDATE
TipoSeñal de alerta
Situaciónreviewed 2026-04-29 | pending_clinical_signoff
EnfermedadesDIS-BREAST DIS-PDAC DIS-PROSTATE
FuentesSRC-NCCN-BREAST-2025 SRC-NCCN-PANCREATIC-2025 SRC-NCCN-PROSTATE-2025 SRC-PROFOUND-DEBONO-2020

Origen de la bandera roja

DefiniciónGermline PALB2 pathogenic variant — BRCA2's recruitment partner; biallelic LOF produces an HRR-deficient phenotype. Pan-tumor PARPi candidate signal weaker than gBRCA1/2 but emerging. Disease applicability: breast (lifetime risk ~35-55%, NCCN high-penetrance — PARPi off-label / investigational), PDAC (~3-5x baseline risk, POLO label is gBRCA-only but PALB2 frequently grouped clinically), prostate mCRPC (cohort-B in PROfound HRR-non-BRCA/ATM — smaller absolute olaparib benefit but PARPi remains an option per NCCN 2025). Genetic counseling + cascade testing of first-degree relatives required.
Dirección clínicaintensificar
Categoríahigh-risk-biology

Lógica de activación

{
  "any_of": [
    {
      "finding": "palb2_germline",
      "value": "pathogenic"
    },
    {
      "finding": "palb2_status",
      "value": "pathogenic"
    },
    {
      "finding": "germline_palb2",
      "value": "pathogenic"
    },
    {
      "finding": "palb2_pathogenic",
      "value": true
    }
  ],
  "type": "biomarker"
}

Notas

References BIO-PALB2-GERMLINE. Surveillance recommendations: enhanced breast screening (annual MRI from age 30), pancreatic surveillance per CAPS consortium when family history present. RF distinct from RF-BREAST-BRCA-GERMLINE-ACTIONABLE (BRCA-specific) and RF-PROSTATE-HIGH-RISK-BIOLOGY (which captures HRR pathway broadly via hrr_pathway_mutation key but does not key on palb2_germline directly). No NCCN hereditary-cancer panel source exists in KB — using disease-specific NCCN sources instead; flagged in commit body.

Utilizado por

Indicación