A first-degree relative of the patient (parent, sibling, or child) has a documented posit...

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

ID	`RF-CASCADE-LFS-FDR-POSITIVE`
Type	Red flag
Status	reviewed 2026-05-19 \| pending_clinical_signoff
Diseases	`DIS-AML` `DIS-BREAST` `DIS-GBM` `DIS-SOFT-TISSUE-SARCOMA`
Sources	`SRC-ASCO-ACMG-LYNCH-2014` `SRC-NCCN-BREAST-2025` `SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025`

Red Flag Origin

Definition	A first-degree relative of the patient (parent, sibling, or child) has a documented positive germline test result for TP53 (Li-Fraumeni Syndrome — one of the most penetrant hereditary cancer syndromes known). The patient themself has NOT yet been germline-tested and has no current personal cancer diagnosis. Per autosomal-dominant inheritance, the patient carries a 50% prior probability of also being a TP53 carrier — combined with the ~70-90% lifetime cancer risk of confirmed TP53 carriers and the radiation-avoidance implications of confirmed carrier status — this is one of the highest-stakes cascade-testing scenarios in clinical oncology prevention. Distinct from RF-LI-FRAUMENI-FAMILY-HISTORY-SUSPICION (fires on Chompret / classic LFS pedigree criteria before any relative has tested positive). Prevention-persona RedFlag (§20, v0.2-B cascade-testing pilot 2026-05-19).
Clinical direction	investigate
Category	other

Trigger Logic

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

Notes

v0.2-B cascade-testing pilot (2026-05-19). Fires when a first-degree relative (FDR — parent, sibling, child) of an asymptomatic patient has a confirmed positive germline test for TP53 (Li-Fraumeni Syndrome). Engine routes to PreventionPlan recommending: (a) IND-CASCADE-LFS-FDR-POSITIVE-TESTING (standard) — cascade site-specific (familial-variant) TP53 testing for the patient + intensive pre/post-test genetic counseling addressing the substantial psychological burden of LFS (lifetime cancer risk approaches 100%; pediatric onset possible). De novo TP53 mutations occur — multi-gene panel expansion is appropriate if site-specific testing is negative and clinical suspicion persists. (b) IND-CASCADE-LFS-FDR-POSITIVE-SURVEILLANCE (alternative) — empirical Toronto-protocol surveillance (annual whole-body MRI + brain MRI + breast MRI from age 20-25 in women + colonoscopy q2-5y from age 25 + dermatology + RADIATION AVOIDANCE for diagnostics) for patients who decline cascade germline testing. **50% prior probability** in autosomal-dominant inheritance (one parent heterozygous) — combined with the extreme penetrance of TP53 pathogenic variants — makes this the highest-priority cascade scenari...

Used By

Indications

IND-CASCADE-LFS-FDR-POSITIVE-SURVEILLANCE - IND-CASCADE-LFS-FDR-POSITIVE-SURVEILLANCE
IND-CASCADE-LFS-FDR-POSITIVE-TESTING - IND-CASCADE-LFS-FDR-POSITIVE-TESTING