2022 Volume 22 Issue 1 Pages 1-8
Recent improvements in genetic and genomic medicine have increased the chance of diagnosing hereditary breast and ovarian cancer (HBOC). We conducted an internet survey of 248 medical institutions in Japan with the aim of understanding the clinical management after HBOC diagnosis. Among 131 institutions that agreed to participate, 127 performed BRCA1/2 genetic testing and 107 undertook surveillance. Retention of BRCA1/2 pathological variants and the development of related cancers influenced the implementation of surveillance. The most frequently performed surveillance approaches were breast mammogram, breast ultrasound, transvaginal ultrasound, and ovarian tumor marker measurement. Some institutions performed male breast cancer screening, prostate specific antigen measurement, and pancreatic cancer screening. Genetic counseling was provided during follow-up at 59 institutions, but this was irregular at many. Issues in HBOC follow-up included internal and external medical collaborations, securing corresponding human resources, and financial support for patients.
