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Variante monoallélique pathogène/pathogène probable confirmée dans PALB2 (hétérozyg...

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IDRF-PALB2-CONFIRMED-CARRIER
TypeSignal d’alerte
Étatreviewed 2026-05-19 | pending_clinical_signoff
MaladiesDIS-BREAST DIS-OVARIAN DIS-PDAC
SourcesSRC-NCCN-BREAST-2025 SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025

Origine du drapeau rouge

DéfinitionConfirmed germline pathogenic / likely-pathogenic monoallelic variant in PALB2 (heterozygous; biallelic PALB2 is the autosomal-recessive Fanconi anemia complementation group N, distinct from the cancer- predisposition carrier state covered here). PALB2 functions in the same homologous-recombination repair pathway as BRCA1/BRCA2; carriers have moderate-to-high-penetrance breast cancer risk (lifetime ~33-58% per Yang et al. JCO 2020 — comparable to BRCA2), pancreatic adenocarcinoma (lifetime ~2-3% baseline, ~5-15% in PALB2-FDR-of- PDAC cohorts), and ovarian cancer (modest increase, ~5% lifetime). Common multi-gene panel finding among unselected breast cancer cohorts (~0.5-1%). Patient has confirmed positive germline test; no current personal cancer diagnosis in the carrier being assessed. Prevention-persona RedFlag (§20, v0.3 moderate-penetrance breast/ pancreatic gene expansion).
Direction cliniqueenquêter
Catégorieautres

Logique de déclenchement

{
  "any_of": [
    {
      "finding": "germline_palb2_pathogenic_variant_confirmed",
      "value": true
    },
    {
      "finding": "germline_palb2_likely_pathogenic_variant",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notes

Prevention-persona RedFlag for PALB2 heterozygous carriers. PALB2 approaches BRCA2 breast-cancer penetrance and warrants BRCA-style surveillance with annual breast MRI + mammography from age 30, plus pancreatic surveillance (EUS or MRI alternating annually from age 50, or 10 years before earliest PDAC in family) for FDR-of-PDAC carriers per CAPS consortium 2022. RRSO discussion deferred to BRCA-style threshold given lower ovarian penetrance. STUB pending two-Co-Lead signoff per CHARTER §6.1 dev-mode.

Utilisé par

Indication

Signal d’alerte