Examination of detection rate of pathogenic variants in breast cancer cases that underwent BRCA genetic testing at our hospital

Abstract

　Criteria for insurance coverage for BRCA1/2 genetic testing for the purpose of diagnosing hereditary breast and ovarian cancer (HBOC) include breast cancer onset under the age of 45, triple negative (TN) breast cancer onset under the age of 60, two or more histories of primary breast cancer, family history of breast or ovarian cancer in a third-degree relative, male breast cancer, or past history of ovarian or peritoneal cancer. We retrospectively investigated the relationship between the above criteria for insurance coverage in 62 breast cancer cases for which BRCA1/2 genetic testing was performed at our hospital. Many cases had breast cancer onset under the age of 45 or family history of breast or ovarian cancer in a third-degree relative. The majority of cases met one or two criteria. The detection rate of pathogenic variants in groups met each criterion was all over 10%, and therefore the criteria for inclusion in Japanese insurance coverage were considered appropriate. The detection rate of pathogenic variants tended to increase as the number of applicable criteria increased. In conclusion, we should actively recommend BRCA1/2 genetic testing to patients met multiple criteria.