Problems and Solutions in Medical Genetics for Sharing Information among Relatives in Families with Hereditary Breast and Ovarian Cancer

Cases: The first case was that of a man in his 30s who visited us for genetic testing 3 years after his mother was diagnosed with HBOC. His visit coincided with his mother’s cancer recurrence. Genetic testing revealed that he had the same BRCA2 pathogenic variant as his mother. As a result, he was educated about male breast cancer and provided with information about prostate cancer surveillance. The second case was a man in his 40s who presented to our clinic a few weeks after his brother was diagnosed with HBOC. Genetic testing revealed the same BRCA2 pathogenic variant as his brother, and prostate cancer surveillance was initiated. However, communicating the genetic risk of cancer to his estranged daughters remained a challenge. Discussion: To support at-risk relatives, genetic information needs to be shared within the HBOC family. To achieve this, not only the proband have easy access to the genetics department and a proper understanding of the genetics aspect of HBOC, but also cancer care departments need to provide a follow-up system including genetic education and genetic information services. Also, family letters by nonphysician genetic specialists can be used to further facilitate genetic risk communication within families. Conclusion: Relatives of HBOC family members are increasingly being diagnosed with genetic testing before they develop cancer, leading to appropriate surveillance. However, the burden on the patient to share information among family members is significant, and each relative has a different perspective on genetic diseases. Future medical practice activities for nonphysician genetic specialists are expected.