Effectiveness of a genetic test panel designed for gynecological cancer: an exploratory study
To increase diagnostic efficiency and cost-effectiveness, we performed an exploratory genetic test using a newly designed panel containing 28 actionable and druggable genes, alterations in which are frequently reported in gynecological cancers (TANRE-G, Targeted variants ANalysis RElated to Gynecological cancers). Samples consisted of the formalin-fixed, paraffin-embedded tissue of endometrial (4 cases), cervical (3 cases), and ovarian (4 cases) carcinomas. The sequencing procedure was performed using Ion PGM in our institute with related sequencing kits, and data were analyzed using ClinVar. The present system achieved more than 2500 reads in all tumor samples, and enabled a copy number variation analysis. Results showed that actionable and druggable mutations were detected in 82% (9/11) and 64% (7/11) of cases, respectively, which was similar to other commercially available genetic tests. The amplification of MYC and KRAS was also detected. The analysis cost for each sample was JPY 94,000 (USD 850). These results demonstrate the potential of the TANRE-G panel as an effective tool for examining genetic alterations in gynecological cancers.
KeywordsGenetic test Endometrial carcinoma Cervical carcinoma Ovarian carcinoma Gene panel
The authors are grateful to Fumi Tsunoda and Eiji Uchida (Research Assistants; Department of Obstetrics and Gynecology, Shinshu University School of Medicine) for their excellent technical assistance. This work was supported by Grants-in-Aid for Scientific Research (KAKENHI) from the Japan Society for the Promotion of Science (JSPS), Grant Numbers 17K16842.
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the Ethics Committee of Shinshu University (approval No.591) and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Blanket consents had been obtained from all individual participants included in this study for using their resected tissue samples to any studies with anonymization. It was accepted in the Ethics Committee that the additional consent was unnecessary from any participants because of analyzing only somatic alterations of the genes on the TANRE-G panel. All individual participants were ensured of their right to opt out prior to the start.
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