J.Jpn. Surg. Soc.. 122(3): 320-324, 2021

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CURRENT SITUATION AND CLINICAL PROBLEMS IN RISK-REDUCING MASTECTOMY FOR HEREDITARY BREAST AND OVARIAN CANCER SYNDROME IN JAPAN

In this review, we discuss the current situation and clinical problems in risk-reducing mastectomy (RRM) for hereditary breast and ovarian cancer (HBOC) syndrome in Japan. First, human resources in clinical genetic practice are too limited to provide efficient genetic counseling nationwide. It is an urgent task to develop a workforce pool in clinical genetics and cooperation among hospitals. The second problem is the limited national insurance coverage. For example, in unaffected BRCA1/2 mutation carriers, RRM is not covered by insurance. The third is treatment for occult cancers, with occurrence rates reported to be 5–7%. Careful interpretation of preoperative imaging and pathological evaluation are required for RRM patients. Fourth, we need to confirm the appropriate modalities for Japanese HBOC surveillance. Currently, annual breast magnetic resonance imaging (MRI) and mammography are recommended for HBOC surveillance based on non-Asian clinical data. Because the clinical benefits of MRI may depend on breast size and density, which differ among races, a validation study of surveillance modalities in Japan is needed. Finally, we need to prepare for gene mutations other than BRCA1/2, because the need for multigene panel tests is expanding and variable gene mutations could be detected through such testing. To avoid causing patients unnecessary anxiety, pre- and posttest genetic counseling is crucial for their support.

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