Reiko Yoshida

Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis

AbstractBreast cancer is a common cancer affecting a large number of patients. Notably, 5–10% of all breast cancer patients are genetically predisposed to cancers. Although the most common breast cancer susceptibility genes areBRCA1andBRCA2, which are also associated with the risk of developing ovarian and pancreatic cancer, advances in next-generation sequencing (NGS) analysis technology enabled the discovery of several non-BRCAgenes responsible for breast and ovarian cancers. Studies on hereditary breast and ovarian cancer (HBOC) involve not only determining the predisposition to developing cancer, but also considering the current treatment for breast cancer, prevention of next cancer, risk diagnosis, and adoption of protective measures for relatives. We present a comprehensive review of HBOC, which will be a useful resource in the clinical setting. Many hereditary tumors, including HBOC, are syndromes characterized by the development of different types of cancer in succession. Taking advantage of knowing predisposition of susceptibility to cancer, it is important to continue and update cancer management protocols, which includes the adoption of preventive measures, countermeasures, and treatments, to accurately assess and prevent the impact of cancer on the quality of life of the next generation of patients.

A Cohort Study of Hereditary Ovarian Cancer Risk Prediction Models and Pathogenesis Exploration

The aim of this project is to establish a bidirectional multicenter cohort of hereditary ovarian cancer and to describe the clinicopathologic features of hereditary ovarian cancer patients in our country. The risk prediction model of ovarian cancer for Chinese was established by following-up analysis of clinical and pathological information, genetic test results and detailed family history, to predict the risk of cancer in first-degree relatives of carriers of pathogenic/suspected pathogenic mutations, and to guide the intervention management of high-risk population of cancer. The study will identify novel tumor-causing mutations/predisposing genes by gene sequencing in a special family with hereditary tumor.