Approximately 5–10% of breast and ovarian cancers are inherited, a condition known as hereditary breast and ovarian cancer (HBOC). Two genes, BRCA1 and BRCA2, are associated with the majority of HBOC cases. Information on the frequency of gBRCA1 and gBRCA2 (gBRCA1/2) mutations in Japanese patients with ovarian cancer is limited. In a recent study of 95 unselected Japanese ovarian cancer patients, 12 (12.6%) had gBRCA1/2 mutations. There is a need for further examination of the prevalence of gBRCA1/2 mutations in a large number of Japanese patients. The Japan CHARLOTTE study is the first epidemiological survey in a large number of Japanese ovarian cancer patients. The primary objective is to examine the frequency of gBRCA1/2 mutations among newly diagnosed ovarian cancer patients in Japan. The secondary objectives are to examine the frequency of gBRCA1/2 mutations in subpopulations (e.g. histological subtype, family history), and to evaluate patient satisfaction with the explanation of BRCA genetic testing.
Japanese women aged ≥20 years with newly diagnosed, histologically confirmed epithelial ovarian cancer, primary peritoneal cancer or fallopian tube cancer, who provide written consent for study participation within 60 days of diagnosis, are eligible. Patients who have an acute or chronic disease or mental illness that could affect the study results as judged by the attending physician will be excluded. The following data will be collected from the medical records: demographics, past medical history and medication use, reproductive history and menopausal status; diagnosis and treatment of the gynecological cancer including staging based on the FIGO stage; and CA-125 levels. A detailed family history of cancer will be obtained by interview at consultation and a blood sample will be taken for BRCA genetic testing. Pathological slides will be sent to a central laboratory to confirm the pathological diagnosis. A questionnaire will be administered to assess patient satisfaction with the explanation of BRCA genetic testing. It is anticipated that 600 patients will be enrolled, with the involvement of around 50 institutions.
Clinical trial identification
Legal entity responsible for the study
T. Sugiyama: Lecture\'s fee from Chugai Pharmaceutical Company. D. Aoki: Lecture\'s Fee from AstraZeneca K.K., Consulting fee/honorarium from AstraZeneca K.K. and FALCO biosystems Ltd. T. Enomoto: Lecture\'s Fee from AstraZeneca, Chugai, Mochida, and Taisho-Toyama. K. Fujikawa, T. Jinnai: Employee of AstraZeneca K.K. All other authors have declared no conflicts of interest.