Skip to main content

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%