November 29, 2017
Keio University School of Medicine
Tokushima University
A research group led by Senior Lecturer Akira Hirasawa of the Department of Obstetrics and Gynecology (Professor Daisuke Aoki) at the Keio University School of Medicine, in a joint study with Professor Issei Imoto of the Department of Human Genetics, Graduate School of Medical and Dental Sciences, Tokushima University, and Professor Hitoshi Tsuda of the Department of Basic Pathology, National Defense Medical College, has clarified the frequency and characteristics of hereditary cancer in Japanese patients with ovarian cancer. The number of ovarian cancer patients is increasing worldwide, but because early detection is difficult, identifying individuals at high risk and establishing preventive measures is expected to reduce the number of deaths.
In this study, for the first time in Japan, germline mutations in genes associated with hereditary ovarian cancer were systematically investigated in a total of 230 patients with ovarian, fallopian tube, and peritoneal cancer who had consented to have their blood stored for research use in the biobank of the Department of Obstetrics and Gynecology, Keio University School of Medicine. Mutations in 11 genes were found in 41 patients (17.8%). These included mutations in the causative genes for hereditary breast and ovarian cancer syndrome, BRCA1 (19 cases, 8.3%) and BRCA2 (8 cases, 3.5%), as well as in the causative genes for Lynch syndrome (6 cases, 2.6%), which predisposes individuals to colorectal cancer and other cancers.
Furthermore, individuals with these mutations were characterized by being diagnosed with ovarian cancer at a younger age, having blood relatives with ovarian cancer, and often having a type of ovarian cancer called high-grade serous carcinoma. By undergoing risk assessment through genetic counseling and genetic testing, people with these characteristics may be able to maintain their health by allowing their genetic risk to be considered in their own and their blood relatives' medical care and by taking preventive measures. Therefore, the results of this study are expected to pave the way for ovarian cancer prevention and treatment based on an individual's risk of onset, leading to a reduction in mortality from the disease.
The results of this research were published in the online edition of the scientific journal "Oncotarget" on November 28, 2017 (US Eastern Time).
Please see below for the full press release.