Objectives: Carcinoma of lung is a widespread multifactorial disease with a poor prognosis. Uzbek lung cancer patients screening for prevalent mutations, associated with cancer development by targeted next generation sequencing was the main objective of current research. Materials and methods: Preparation of sequencing libraries was conducted using the Illumina Cancer Hot spot Panel v2 covering mutational hot spot regions of 50 cancer genes, from DNA extracted from formalin-fixed paraffin-embedded tumor samples of 10 patients. Sequencing was performed with the Mi Seq Next Generation Sequencing machine(NGS). Results: Hot spot mutations data analysis revealed clinically benign mutations in allstudied samples, with 70% having 3 or more mutations stored in the COSMIC database.According to ClinVarFGFR3 gene was associated with Crouzon syndrome with acanthosis nigricans, PDGFRA, EGFR and TP53 gene mutations were corellated with Idiopathic hypereosinophilic syndrome, Lung cancer and Glioma susceptibility respectively.KIT and KDR gene mutations were, respectively, associated with Gastrointestinal stromal tumor and Hemangioma, capillary infantile. Synonymous variants in RET and HRAS genes, were associated congenital central hypoventilation and epidermal nevus syndrome respectively. EGFR gene mutations occurred exclusively in patients with adenocarcinoma G2. where as MET and BRAF mutations were identified in bronchioalveolar cancer samples. Conclusion. In conclusion, particular polymorphisms and mutations affect treatment response and the toxicity level among patients with lung cancer, undergoing chemotherapy. Variety of SNPs were reported to have impact on disease outcomes of those patients, therefore they should be validated in an independent population, prior to being adopted for pre-personalised therapy screening.
Identification of Germline Mismatch Repair Gene Mutations in Lung Cancer Patients With Paired Tumor-Normal Next Generation Sequencing: A Retrospective Study
