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Variante monoallélique pathogène/pathogène probable confirmée dans le système ATM (heterozygou...

Vue déterministe de l'entité source de la LJAM. L'autorité clinique demeure avec les ID de la source cités et l'état d'approbation de l ́examinateur.

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

Origine du drapeau rouge

DéfinitionConfirmed germline pathogenic / likely-pathogenic monoallelic variant in ATM (heterozygous; biallelic ATM is the autosomal-recessive Ataxia-Telangiectasia phenotype, distinct from the cancer-predisposition carrier state covered here). Heterozygous ATM carriers have moderate- penetrance breast cancer risk (RR ~2.0-2.4; lifetime breast cancer risk ~20-30%), pancreatic adenocarcinoma (RR ~5-10, lifetime ~5-9%), prostate cancer (RR ~2-3 with high-grade enrichment), and possibly gastric + colorectal modest signals. Specific variants — c.7271T>G (p.Val2424Gly) + truncating loss-of-function — confer higher breast cancer risk than missense variants of uncertain significance. Common multi-gene panel finding (~1% population carrier frequency). Patient has confirmed positive germline test; no current personal cancer diagnosis in the carrier being assessed. Prevention-persona RedFlag (§20, v0.3 mod...
Direction cliniqueenquêter
Catégorieautres

Logique de déclenchement

{
  "any_of": [
    {
      "finding": "germline_atm_pathogenic_variant_confirmed",
      "value": true
    },
    {
      "finding": "germline_atm_likely_pathogenic_variant",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notes

Prevention-persona RedFlag for ATM heterozygous carriers. Distinction from biallelic A-T phenotype is critical: heterozygotes have cancer predisposition only (no neurologic phenotype). Engine routes to enhanced breast surveillance + pancreatic surveillance for FDR-of- PDAC carriers per CAPS consortium 2022; prostate awareness for males. STUB pending two-Co-Lead signoff per CHARTER §6.1 dev-mode.

Utilisé par

Indication

Signal d’alerte