TY - JOUR
T1 - Effectiveness of a genetic test panel designed for gynecological cancer
T2 - an exploratory study
AU - Ida, Koichi
AU - Miyamoto, Tsutomu
AU - Higuchi, Shotaro
AU - Takeuchi, Hodaka
AU - Yamada, Satoshi
AU - Ono, Motoki
AU - Nishihara, Hiroshi
AU - Shiozawa, Tanri
N1 - Funding Information:
Acknowledgements 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.
Publisher Copyright:
© 2019, Springer Science+Business Media, LLC, part of Springer Nature.
PY - 2019/7/1
Y1 - 2019/7/1
N2 - 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.
AB - 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.
KW - Cervical carcinoma
KW - Endometrial carcinoma
KW - Gene panel
KW - Genetic test
KW - Ovarian carcinoma
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U2 - 10.1007/s12032-019-1286-9
DO - 10.1007/s12032-019-1286-9
M3 - Article
C2 - 31139954
AN - SCOPUS:85066463975
SN - 1357-0560
VL - 36
JO - Medical Oncology
JF - Medical Oncology
IS - 7
M1 - 62
ER -
