Detection of Overlooked Rare EGFR Mutations in Non-small Cell Lung Cancer Using Multigene Testing.

ABSTRACT:

Background

Recognizing rare molecular variants of driver mutations poses a challenge in precision oncology, particularly for treatment of non-small cell lung cancer (NSCLC). In this study, we aimed to determine whether Oncomine Dx Target Test Multi-CDx System (ODxTT), the most widely used genetic test for NSCLC in Japan, potentially overlooks druggable EGFR mutations.

Materials and methods

Among 418 patients who underwent molecular testing using ODxTT at our hospital, 267 were diagnosed with adenocarcinoma. No mutations were reported in 82 of these cases. For these 82 cases, we searched for EGFR mutations in exons 18-21 by examining the binary alignment map file. Once a mutation was identified, its pathological significance was evaluated using the ClinVar database to determi

SUBMITTER: Shiraishi N 

PROVIDER: S-EPMC11825211 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature