Annotation Detail
Information
- Associated Genes
- BRCA1
- Associated Variants
-
BRCA1 MUTATION
BRCA1 MUTATION - Associated Disease
- ovarian carcinoma
- Source Database
- DisGeNET
- Description
- Three DNA-based homologous recombination deficiency (HRD) scores (HRD-loss of heterozygosity score (LOH), HRD-telomeric allelic imbalance score (TAI), and HRD-large-scale state transition score (LST)) have been developed that are highly correlated with defects in BRCA1/2, and are associated with response to platinum therapy in triple negative breast and ovarian cancer.
- Pubmed
- 25475740
- Section of the abstract supporting the evidence
- INTRODUCTION
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree,GAD
- DisGENET score for the Gene Disease association
- 0.082367031978602
Drugs