BRCA1/BRCA2 germline pathogenic variant
Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.
| ID | BIO-BRCA1-BRCA2-GERMLINE |
|---|---|
| Тип | Біомаркер |
| Синоніми | Germline BRCA1/BRCA2 mutationgBRCA1gBRCA2Зародкова патогенна варіація BRCA1/BRCA2 |
| Статус | переглянуто 2026-04-26 |
| Хвороби | Не вказано |
| Джерела | SRC-NCCN-PANCREATIC-2025 |
Дані про біомаркер
| Тип біомаркера | gene_mutation |
|---|---|
| Деталі мутації | {"functional_impact": "loss of homologous recombination repair", "gene": "BRCA1, BRCA2", "inheritance": "germline", "variant_type": "loss-of-function (frameshift, nonsense, splice, large deletions)"} |
| Вимірювання | MethodGermline NGS panel (multi-gene HRD panel preferred over BRCA1/2 only) on blood or saliva Unitscategorical: pathogenic | likely_pathogenic | VUS | benign | absent |
| Пов’язані біомаркери | Не вказано |
Де використовується
Indications
IND-BREAST-BRCA-MET-TALAZOPARIB- IND-BREAST-BRCA-MET-TALAZOPARIBIND-BREAST-TNBC-2L-BRCA-OLAPARIB- IND-BREAST-TNBC-2L-BRCA-OLAPARIBIND-BREAST-TNBC-2L-BRCA-TALAZOPARIB- IND-BREAST-TNBC-2L-BRCA-TALAZOPARIBIND-OVARIAN-MAINT-PARPI-BRCAM-OLAPARIB- IND-OVARIAN-MAINT-PARPI-BRCAM-OLAPARIBIND-PDAC-MAINTENANCE-OLAPARIB-BRCA- IND-PDAC-MAINTENANCE-OLAPARIB-BRCA
Questionnaires
QUEST-BREAST-1L-STUB- Invasive breast cancer — first lineQUEST-OVARIAN-1L-STUB- Ovarian carcinoma — first lineQUEST-PDAC-1L-STUB- Pancreatic ductal adenocarcinoma — first line
Біомаркер
BIO-ATM-CHEK2-CDK12-GERMLINE- Germline ATM / CHEK2 / CDK12 pathogenic variant (HRR/DDR composite)BIO-BRCA-SOMATIC- Somatic BRCA1/BRCA2 pathogenic variantBIO-CDH1-GERMLINE- Germline CDH1 pathogenic variantBIO-HRD-ASSAY-DISTINCTION- HRD assay distinction (Myriad myChoice CDx vs FoundationOne CDx)BIO-HRD-STATUS- Homologous recombination deficiency (HRD) statusBIO-PALB2-GERMLINE- Germline PALB2 pathogenic variant
Клінічна застосовність
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