BRACAnalysis and multigene panel testing needs hereditary cancer care

Abstract

Abstract National cancer center hospital east has been one of the leading institutions of the nationwide SCRUM Japan project. We have revealed tumor genome profiles for personalized medicine in many cancer types using next-generation sequencer. We collaborate with pharmaceutical companies to develop new anti-cancer agent with genome data, and this project accelerated our activity. At the same time, we have encountered several gene mutations associated with hereditary cancer. We have to understand somatic gene alterations in tumor tissue are expected to harbor not a small proportion of patients have germline mutation. Recently, BRACAnalysis became insured as CDx testing to determine germline BRCA1/2 gene status for olaparib use in daily practice. Patients as well as physicians have to understand test result meaning. Pathogenic gBRCA1/2 alteration observed in patients indicates potentially 50% of family member had the same mutation. We prepared training system for explaining BRCA genetic testing not only for breast cancer patient but ovarian, prostate and pancreas cancer patients. In addition, we may need to expand possible other familial cancer risk if BRACAnalysis showed no pathogenic alteration of BRCA genes in high risk patients such as young breast cancer patients or patients with family history. We are now encountering further issues for handling multi gene panel testing. Multi-gene panel testing may clarify the optimal treatment option according to tumor gene alteration. We will frequently encounter BRCA 1/2 variant and other gene mutation related with hereditary cancer, and we should prepare for adequate genetic counseling and management infrastructure including surveillance and risk reduction surgery for their family members.