Family pedigree suggestive of BAP1 tumor predisposition syndrome — confirmed germline BAP...
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | RF-BAP1-FAMILY-HISTORY-SUSPICION |
|---|---|
| Type | Red flag |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | DIS-MESOTHELIOMA DIS-RCC |
| Sources | SRC-ASCO-ACMG-LYNCH-2014 SRC-NCCN-BCELL-2025 |
Red Flag Origin
| Definition | Family pedigree suggestive of BAP1 tumor predisposition syndrome — confirmed germline BAP1 pathogenic variant in family OR cluster of characteristic BAP1-spectrum tumors (uveal melanoma + cutaneous melanoma + mesothelioma + clear-cell RCC ± atypical Spitz tumors). Prevention-persona RedFlag (§20 v0.2-B). |
|---|---|
| Clinical direction | investigate |
| Category | other |
Trigger Logic
{
"any_of": [
{
"finding": "family_bap1_known_pathogenic_variant",
"value": true
},
{
"finding": "family_uveal_melanoma_first_or_second_degree",
"value": true
},
{
"finding": "family_bap1_spectrum_cluster",
"value": "true (мезотеліома + меланома + RCC у родині)"
}
],
"type": "lab_value"
}
Notes
Prevention-persona RedFlag for BAP1 syndrome family history. STUB pending two-Co-Lead signoff.
Used By
Indications
IND-BAP1-SUSPICION-PREVENTION-ENHANCED-SURVEILLANCE- IND-BAP1-SUSPICION-PREVENTION-ENHANCED-SURVEILLANCEIND-BAP1-SUSPICION-PREVENTION-GENETIC-COUNSELING- IND-BAP1-SUSPICION-PREVENTION-GENETIC-COUNSELING
Red flag
RF-BAP1-CONFIRMED-CARRIER- Confirmed germline pathogenic / likely-pathogenic variant in the BAP1 gene — BAP1 tumor p...