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Somatische BRCA1/BRCA2-pathogene Variante

Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.

IDBIO-BRCA-SOMATIC
ArtBiomarker
Aliase
Somatische BRCA1/BRCA2-Mutation (nur Tumor)sBRCA1sBRCA2Tumor BRCAСоматичний патогенний варіант BRCA1/BRCA2
Statusreviewed 2026-04-29 | pending_clinical_signoff
ErkrankungenDIS-BREAST DIS-OVARIAN DIS-PDAC DIS-PROSTATE
QuellenSRC-CIVIC SRC-NCCN-OVARIAN-2025 SRC-NCCN-PANCREATIC-2025 SRC-NCCN-PROSTATE-2025 SRC-PROFOUND-DEBONO-2020

Biomarker-Fakten

Biomarker-Typgene_mutation
Angaben zur Mutation{"functional_impact": "loss of homologous recombination repair", "gene": "BRCA1, BRCA2", "inheritance": "somatic", "variant_type": "loss-of-function (frameshift, nonsense, splice, large deletions)"}
Messung
VerfahrenTumor-NGS (FFPE) — gepaarte Keimlinie NGS stark bevorzugt, somatische gegenüber Keimlinie zu unterscheiden; Tumor-nur Anrufe erfordern orthogonale Keimlinie Testung zur Bestätigung.
Einheitencategorical: pathogenic | likely_pathogenic | VUS | benign | absent
Verwandte BiomarkerBIO-BRCA-GERMLINE BIO-BRCA1-BRCA2-GERMLINE BIO-PALB2-GERMLINE BIO-ATM-CHEK2-CDK12-GERMLINE

Anmerkungen

Distinct entity from BIO-BRCA-GERMLINE: same HRR-deficient phenotype but absent the inherited-cancer-risk implication and (in some labels) reduced PARPi access. Confirmation of somatic vs germline status requires paired germline testing — tumor-only NGS reports a "BRCA" call that may in fact be germline in ~40% of cases (per ASCO/CAP germline-implications guidance).

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