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. 2021 Dec 20;22(24):13650. doi: 10.3390/ijms222413650

Figure 4.

Figure 4

HRD and BRCA1/2 mutation in HGSOC. Approximately 50% of HGSOCs have homologous recombination deficiency (HRD). Among genes, BRCA1/2 are the most common involved: about 14% of HGSOC patients were reported to have BRCA1/2 mutation detectable in a blood sample (germinal mutation, analysis of peripheral Lymphocytes). While a BRCA1/2 mutation found only in a tissue sample is present in about 20% of the affected women (somatic mutation). Other genes with a role in HRD are CDK12 (3% of cases), RAD51C (2%), EMSY (6%), and PTEN (7%).