Genetic Testing for Ovarian Cancer

SGO Clinical Practice Statement: Genetic Testing for Ovarian Cancer

October 2014

Women diagnosed with epithelial ovarian, tubal, and peritoneal cancers should receive genetic counseling and be offered genetic testing, even in the absence of a family history.

Germline BRCA1 and BRCA2 mutations account for approximately 15% of invasive ovarian carcinomas, and a somewhat higher proportion of fallopian tube or peritoneal carcinomas [1,2,3]. In contrast, borderline ovarian neoplasms are not associated with mutations in BRCA1 and BRCA2 [4]. BRCA1 and BRCA2 mutations lead to a 15-50% lifetime risk of ovarian carcinoma, with an increased risk and earlier onset associated with BRCA1 compared to BRCA2 mutations. A number of other genes have also been shown to cause hereditary ovarian carcinoma.

Nearly one-third of women with hereditary ovarian carcinoma have no close relatives with cancer, and 35% of women with hereditary ovarian carcinoma are older than 60 years at diagnosis. Therefore, all women diagnosed with ovarian, fallopian tube or peritoneal carcinoma, regardless of age or family history, should receive genetic counseling and be offered genetic testing. Careful pre- and post-test counseling is essential to understanding genetic testing options and results. Genetic counseling and testing can be conducted by genetic counselors, as well as other knowledgeable medical professionals.

Identification of hereditary cancer susceptibility allows for identification of cancer risk in other organs. Additionally, genetic results are valuable to inform other family members about their cancer risk, allowing personalized prevention to high risk individuals, including more intensive screening and risk-reducing surgery. Family members found not to carry the mutation may also receive reassurance and avoid unnecessary screening and interventions. New therapies such as PARP inhibitors are currently being tested for the treatment of ovarian carcinoma associated with mutations in BRCA1 and BRCA2 [5]. The Society of Gynecologic Oncology (SGO) encourages the medical community to offer genetic counseling and testing to all women with ovarian, fallopian tube and peritoneal carcinoma.


[1]        Pal T, Permuth-Wey J, Betts JA, Krischer JP, Fiorica J, Arango H, et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer 2005;104:2807–16.

[2]        Schrader KA, Hurlburt J, Kalloger WE, Hansford S, Young S, Huntsman DG, et al. Germline BRCA1 and BRCA2 mutations in ovarian cancer. Obstet Gyncol 2012;120:235-240.

[3]        Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci USA 2011;108:18032-18037.

[4]        Romero I, Sun CC, Wong, KK, Bast RC, Gershenson DM. Low grade serous carcinoma: new concepts and emerging therapies. Gynecol Oncol 2013;130:660-666.

[5]        Kaye SB, Lubinski J, Matulonis U, Ang JE, Gourley C, Karlan BY, et al. Phase II, open-label, randomized, multicenter study comparing the efficacy and safety of olaparib, a poly (ADP-ribose) polymerase inhibitor, and pegylated liposomal doxorubicin in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer. J Clin Oncol 2012; 30(4):372–9.