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Patient has a confirmed germline TP53 pathogenic variant (positive germline test, distinc...

Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.

IDRF-LI-FRAUMENI-CONFIRMED-CARRIER
TypeRed flag
Statusreviewed 2026-05-18 | pending_clinical_signoff
DiseasesDIS-ADRENOCORTICAL-CARCINOMA DIS-AML DIS-BREAST DIS-LEIOMYOSARCOMA DIS-OSTEOSARCOMA
SourcesSRC-ASCO-ACMG-LYNCH-2014 SRC-NCCN-BCELL-2025

Red Flag Origin

DefinitionPatient has a confirmed germline TP53 pathogenic variant (positive germline test, distinct from pedigree-suspicion phase). Toronto Protocol whole-body MRI-based surveillance applies. Confirmed-carrier RedFlag (ยง20, v0.2-B follow-on to RF-LI-FRAUMENI-FAMILY-HISTORY-SUSPICION).
Clinical directioninvestigate
Categoryother

Trigger Logic

{
  "any_of": [
    {
      "finding": "germline_tp53_pathogenic_variant_confirmed",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notes

Prevention-persona confirmed-carrier RedFlag for Li-Fraumeni syndrome. Engine routes to PreventionPlan recommending Toronto Protocol whole-body MRI + brain MRI + colonoscopy from 25 + breast MRI from 20-25 (women) + AVOID radiation. STUB pending two-Clinical-Co-Lead signoff.

Used By

Algorithms

Indications

Red flag