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Family pedigree or personal history meeting criteria suggestive of Li-Fraumeni Syndrome (...

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

IDRF-LI-FRAUMENI-FAMILY-HISTORY-SUSPICION
TypeRed flag
Statusreviewed 2026-05-18 | pending_clinical_signoff
DiseasesDIS-AML DIS-BREAST DIS-GBM DIS-SOFT-TISSUE-SARCOMA
SourcesSRC-NCCN-AML-2025 SRC-NCCN-BREAST-2025 SRC-NCCN-CNS-2025 SRC-NCCN-SARCOMA

Red Flag Origin

DefinitionFamily pedigree or personal history meeting criteria suggestive of Li-Fraumeni Syndrome (LFS; germline TP53 pathogenic variant), one of the most penetrant hereditary cancer syndromes known: any of (a) first- or second-degree relative with a confirmed TP53 pathogenic variant; (b) Chompret criteria met — proband with an LFS-spectrum tumor (soft-tissue sarcoma, osteosarcoma, premenopausal breast cancer, CNS tumor, adrenocortical carcinoma, leukemia, or lung bronchoalveolar carcinoma) before age 46 AND ≥1 first/second-degree relative with LFS-spectrum tumor (other than breast if proband had breast cancer) before age 56 or with multiple primaries at any age; OR proband with multiple primary tumors (≥2, with first before age 46); OR proband with adrenocortical carcinoma, choroid plexus carcinoma, embryonal anaplastic subtype rhabdomyosarcoma, regardless of family history; (c) classic Li-Fraum...
Clinical directioninvestigate
Categoryother

Trigger Logic

{
  "any_of": [
    {
      "finding": "family_tp53_known_pathogenic_variant",
      "value": true
    },
    {
      "finding": "family_chompret_criteria_met",
      "value": true
    },
    {
      "finding": "family_classic_lfs_criteria_met",
      "value": true
    },
    {
      "finding": "family_multiple_lfs_spectrum_cancers_in_proband",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notes

v0.2-B hereditary pilot — Li-Fraumeni Syndrome (LFS). Fires on pedigree-based suspicion of LFS in an asymptomatic individual (no current cancer diagnosis). Engine routes to PreventionPlan recommending: (a) genetic counseling + germline TP53 testing via IND-LI-FRAUMENI-SUSPICION-PREVENTION-GENETIC-COUNSELING (standard) (b) empirical Toronto-protocol-style enhanced surveillance for patients declining testing via IND-LI-FRAUMENI-SUSPICION-PREVENTION-ENHANCED-SURVEILLANCE (surveillance / alternative, resource-intensive — explicit patient-autonomy framing per CHARTER §11). Trigger criteria correspond to (1) Chompret criteria for TP53 testing (revised 2015), (2) classic Li-Fraumeni criteria (Li & Fraumeni 1988 / Birch et al. 1994), and (3) NCCN Genetic/Familial High-Risk: Breast, Ovarian and Pancreatic v2.2025 LFS section testing criteria. Simplified for v0.2-B pilot; production version may add quantitative scoring (LFS Mutation Probability Score). STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode exemption. Source-set TODO: NCCN Genetic/Familial High-Risk: Breast/Ovarian/Pancreatic, dedicated TP53/LFS testing guidance from Mai et al. NCI consortium, Bougeard et al. re...

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Red flag