Clinical experience of an outpatient clinic specializing in hereditary breast and ovarian cancer (HBOC) and clinicopathological trends of patients with pathogenic variants in BRCA1/2

Abstract

　We established an outpatient clinic specializing in hereditary breast and ovarian cancer (HBOC) in April 2020 when the Japanese insurance began covering BRCA1/2 genetic testing for HBOC. In the HBOC outpatient clinic, patients undergo a detailed interview of family history and explanation of BRCA1/2 genetic testing provided by a panel of clinical experts, including a breast surgeon, a certified breast cancer nurse, and a genetic counselor, to support the patient in decision-making for BRCA1/2 genetic testing. Between May 2020 and December 2021, 166 patients visited the clinic and 20 patients (12.0%) were found to harbor pathogenic variants in BRCA1 or BRCA2. During this period, several issues, such as the establishment of an efficient system to reduce the workload of medical staff in future, have emerged. We will report the results of patients visiting the HBOC outpatient clinic and the clinical characteristics of patients with pathogenic variants in BRCA1/2 and discuss future prospect.