Current Guidance for Brca Mutation Testing in Ovarian Cancer Patients


      To describe current guidance on BRCA testing practices in patients with ovarian cancer (OC) in China, European countries, and US.


      Guideline databases like National Guideline Clearinghouse, Guidelines International Network, and National Institute for Health and Care Excellence were searched for guidelines in both ovarian and breast cancer. Additionally, relevant medical societies like United States Preventive Services Task Force, National Society of Genetic Counselors, American Society of Clinical Oncology, European Society for Medical Oncology, European Society of Human Genetics, Chinese Society of Clinical Oncology, Chinese Academy of Medical Sciences, and International Cancer Genome Consortium were considered. Guidelines were included if they contained recommendations for BRCA testing in OC or patient characteristics for BRCA mutation in OC, were published after 2003, were currently valid, and published in English, Chinese or German language.


      The search revealed a total of 22 guidelines. Ten breast cancer guidelines were excluded because they did not add any information beyond that found in guidelines for OC. Ten out of 12 guidelines recommend genetic testing for healthy individuals with familial history of ovarian or breast cancer and a personal history of breast cancer. Most guidelines differ in their description of selection criteria such as degree of relationship between affected individuals and counselee, age at diagnosis, and individual history of early onset cancer. Five out of 12 guidelines also recommend screening for patients of Jewish Ashkenazi or Icelandic descent.


      Current guidance recommends genetic testing primarily for healthy individuals; a few guidelines recommend testing in diagnosed ovarian cancer patients. Using current recommendations a substantial number of patients with OC due to an inherited BRCA mutation are missed. With options for treatment aimed at mutation carriers, identification of all OC patients with BRCA mutation will facilitate a personalized therapy and identify family members at risk of cancer.