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Table 2 Germline and somatic HRD mutations in ovarian cancer

From: Homologous recombination deficiency (HRD) testing in ovarian cancer clinical practice: a review of the literature

Study Included histologic subtypes Findings
TCGA [7] High grade serous ovarian cancer (316) Germline mutations (N = 316) BRCA1 – 9% BRCA2 – 8%
Somatic mutations (N = 216) BRCA1/2–3% EMSY – 8% PTEN – 7% RAD51C – 3% ATM/ATR – 2% Fanconi anemia genes – 5%
Hennessy et al. [25] Serous (186) Nonserous (13) Mixed (13) Unknown (22) Tumor sequencing (N = 235) BRCA1 – 13% BRCA2 – 5.5%
Germline testing from patients with tumors harboring BRCA1/2 mutations (N = 28) BRCA1/2 germline mutation – 61% BRCA1/2 somatic mutation – 39%
Pennington et al. [26] High grade serous (249) Low grade serous (9) Poorly-differntiated NOS (48) Clear cell (19) High-grade endometrioid (20) Low-grade endometrioid (6) Carcinosarcoma (12) Other (4) Germline mutations (N = 367) HRD genes – 24% (BRCA1 – 56%, BRCA2 – 19%, BARD1 – 2%, 4, BRIP1 – 4.5%, CHEK1 – 1%, CHEK2 – 3%, FAM175A – 2%, NBN – 1%, PALB2 – 2%, RAD51C – 3%, RAD51D – 4.5%)
Somatic Mutations (N = 367) HRD genes – 9% (BRCA1 – 54%, BRCA2 – 17%, ATM – 9%, BRIP1 – 6%, CHEK2 – 9%, MRE11A – 3%, RAD51C – 3%)
Cunningham et al. [27] High grade serous (735) High grade endometrioid (73) Low grade endometrioid (67) Clear cell (69) Low-grade serous (34) Mucinous (29) Other/Unknown (56) Germline mutations (N = 899) BRCA1 – 3.5% BRCA2 – 3% RAD51C – 3%
Somatic Mutations (N = 279) BRCA1 – 2% BRCA2 – 1.4%