Table 2 Germline and somatic HRD mutations in ovarian cancer

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%