Significance of the Multi-gene Panel myRisk in Japan

Abstract

Background/Aim: Hereditary tumors are estimated to account for approximately 5-10% of all tumors. In Europe and the United States, multi-gene panel testing (MGPT) is the standard method used for identifying potential causative genes. However, MGPT it is still not widely used in Japan. The aim of this study was to assess the risk of hereditary tumors in Japanese cancer patients using germline MGPT and provide an overview of MGPT in the Japanese medical system. Patients and Methods: We used the myRiskTM, a 35-gene panel that determines the risk for eight hereditary cancers: breast, ovarian, gastric, colorectal, prostate, pancreatic, malignant melanoma, and endometrial cancers. Results: From June 2019 to March 2020, 21 patients who were suspected to have hereditary tumors were included, based on their family or medical history. Pathogenic variants were found in 7 patients [BRCA1 (5), MSH6 (1), TP 53 (1)]. Conclusion: In this study, despite the small number of participants, we were able to show the significance of MGPT in Japan. Therefore, MGPT should be used for evaluating hereditary tumors in clinical practice.

Prophylactic Risk‐Reducing Mastectomy (PRRM): A Set Practice or Catch‐22 Situation in LMIC. A Single‐Centre Prospective Cohort Study

“…Interestingly, our cohort's families who underwent cascade testing had a 54.8% positive rate, which is comparable to the high rates from India: 74% [22]. Other studies have reported Asian ethnicity, along with the high cost of the genetic testing panel, late presentation, unavailability of genetic counsellors and inadequate access in LMICs to be responsible factors [23][24][25].…”