Effectiveness of a Genetic Test Panel Designed for Gynecological Cancer: an Exploratory Study

Overview

Journal Med Oncol

Publisher Springer

Specialty Oncology

Date 2019 May 30

PMID 31139954

Citations 1

Authors

Koichi Ida

Tsutomu Miyamoto

Shotaro Higuchi

Hodaka Takeuchi

Satoshi Yamada

Motoki Ono

Hiroshi Nishihara

Tanri Shiozawa

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.

Paduano F, Colao E, Fabiani F, Rocca V, Dinatolo F, Dattola A Genes (Basel). 2022; 13(7).

PMID: 35886069 PMC: 9319682. DOI: 10.3390/genes13071286.

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