In recent years, advances in personalized cancer care and the widespread use of next-generation sequencing have facilitated comprehensive genome profiling (CGP) for patients with advanced solid tumors. Secondary findings (SFs) of CGP include the determination of a certain frequency of important germline variants, such as genes responsible for hereditary tumors, which can be used for cancer risk prediction and patient and family surveillance. This information is essential to predict personal and/or familial hereditary cancer risk, and should be appropriately linked to surveillance and treatments. In this report, we examined how SFs from CGP are detected and disclosed at our hospital and the status of visits to the Genetics Outpatient Clinic.

　In April 2020, BRCA1/2 genetic testing in the diagnosis of hereditary breast and ovarian cancer (HBOC) was approved for funding by social insurance and is now utilized in treatment decisions such as determining surgical approaches for breast cancer patients. However, some breast cancer patients with suspected HBOC were diagnosed before April 2020. The present case was diagnosed with HBOC following the approval of BRCA1/2 genetic testing. She had completed breast-conserving surgery, postoperative chemotherapy, and radiation therapy before BRCA1/2 genetic testing. Here we report a case that required consideration regarding the management of an unaffected ipsilateral conserved breast and contralateral breast.

　It has been reported that approximately 4% of pancreatic cancer patients have germline BRCA2 pathogenic variants. If a blood relative of a patient carries the same variant, their risk of pancreatic cancer is increased, in addition to their increased risk of breast and ovarian cancer, and support of this individual becomes important. Among 72 pancreatic cancer patients who underwent precision medicine at our hospital, we review 5 cases with BRCA2 presumed germline pathogenic variant(PGPV)and germline finding in detail.

　In Japan, olaparib (Lynparza^®), a therapeutic drug against the BRCA gene in the germline was approved for patients with breast cancer in July 2018. BRACAnalysis CDx®is a companion diagnosis that has been initiated to determine the indication of olaparib. In this study, we report the challenges encountered by oncology certified nurse specialists in cancer nursing (hereinafter referred to OCNS) and the issues in and prospects for cancer genome medicine in a 482-bed general hospital with a history of HBOC genetic counseling in the process of implementing BRACAnalysis CDx^®.

　Uninformative negative results of genetic testing has been frequently experienced. Recent technological development and accumulation of knowledge of the molecular mechanisms of disease onset enables us to obtain the correct diagnosis for many cases in a retrospective manner. It is quite important to salvage the cases that may be diagnosed correctly with the new knowledge although sometimes there is no analytical technologies that can be easily performed for the genetic disorders of interest. In other words, filling the chronological or technical gaps between diagnosed and undiagnosed cases in genetic medicine is critical and we need to develop a method to fill the gap between those cases. In the present report, we introduce an example of Lynch syndrome pedigree with a deletion of the EPCAM gene. Careful, earnest, and supportive genetic counseling and development of tight relationship between a genetic counsellor and family members could fill the gaps in genetic diagnosis of a large pedigree even after the long period of time from uninformative negative results. We also discuss how the outcome of probands may affect the feeling of other family members for genetic testing.