Current status and characteristics of BRCA examination at our hospital

Abstract

　Hereditary breast and ovarian cancer (HBOC) is an autosomal dominant form of cancer susceptibility syndrome, which is caused by germline pathological variants of BRCA1 or BRCA2 in the narrow sense of the term. The selection of patients for BRCA examination to confirm HBOC is based on the HBOC practice guidelines of the Japanese Organization for Comprehensive Treatment of Hereditary Breast and Ovarian Cancer and the testing criteria of the NCCN guidelines, which differ in some respects, and therefore, so do the test subjects. The criteria for testing are partially different between the two guidelines, so the target population for testing is also different. In this study, we examined the degree to which both testing criteria were met in 58 of 220 patients who were tested positive for BRCA between January 2019 and November 2022 at our hospital. The number of BRCA1/2-positive patients who did not meet the HBOC and NCCN guidelines did not differ significantly, but there were some patients who did not meet the criteria due to cancer or family history of cancer. We believe that the testing criteria should be reviewed in order to increase the number of BRCA-positive patients in the future.