Identification of Germline Mismatch Repair Gene Mutations in Lung Cancer Patients With Paired Tumor-Normal Next Generation Sequencing: A Retrospective Study

Conclusion: In this retrospective study, 0.5% (6/1179) of lung cancer patients were found to harbor a germline mutation on MSH2, MSH6 or PMS2. However, two of these patients displayed intact MMR protein expression, MSS and TMB-L. Combined with the baseline characteristics of 6 patients, it seems that lung cancers may not be related to Lynch syndrome. Relationships between the development of lung cancers and Lynch syndrome still requires further large–scale investigations. Nonetheless paired tumor–normal next-generation sequencing can identify germline mutations including that related with Lynch syndrome in cancer patients, which has important implications for cancer screening and risk reduction in these patients and their families.
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research