A BRCA2 mutation carrier diagnosed with breast cancer using ultrasonography during surveillance after genetic testing following the discovery of breast cancer in her identical twin sister

Abstract

In recent years, even in Japan, more people have been concerned with hereditary breast cancer, and those who have genetic counseling and want to have genetic tests, are increasing. Though some previous studies have shown which combination of examinations is effective for the early diagnosis of breast cancer for BRCA mutation carriers, the screening methods have not been established sufficiently in Japan. The patient in this report was tested and found to have the BRCA2 mutation after her identical twin sister was diagnosed with breast cancer. In our institute, BRCA mutation carriers have mammography and MRI once a year as some guidelines recommend, and also have ultrasonography every 6 months. We present the patient diagnosed with breast cancer through the surveillance for BRCA mutation carriers, showing previous data and our analysis.