Hot spot mutations in Finnish non-small cell lung cancers

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http://hdl.handle.net/10138/228322

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Maki-Nevala , S , Sarhadi , V K , Ronty , M , Kettunen , E , Husgafvel-Pursiainen , K , Wolff , H , Knuuttila , A & Knuutila , S 2016 , ' Hot spot mutations in Finnish non-small cell lung cancers ' , Lung Cancer , vol. 99 , pp. 102-110 . https://doi.org/10.1016/j.lungcan.2016.06.024

Title: Hot spot mutations in Finnish non-small cell lung cancers
Author: Maki-Nevala, Satu; Sarhadi, Virinder Kaur; Ronty, Mikko; Kettunen, Eeva; Husgafvel-Pursiainen, Kirsti; Wolff, Henrik; Knuuttila, Aija; Knuutila, Sakari
Contributor: University of Helsinki, Department of Pathology
University of Helsinki, Medicum
University of Helsinki, Clinicum
University of Helsinki, Clinicum
University of Helsinki, Medicum
Date: 2016-09
Language: eng
Number of pages: 9
Belongs to series: Lung Cancer
ISSN: 0169-5002
URI: http://hdl.handle.net/10138/228322
Abstract: Objectives: Non-small cell lung cancer (NSCLC) is a common cancer with a poor prognosis. The aim of this study was to screen Finnish NSCLC tumor samples for common cancer-related mutations by targeted next generation sequencing and to determine their concurrences and associations with clinical features. Materials and methods: Sequencing libraries were prepared from DNA isolated from formalin-fixed, paraffin-embedded tumor material of 425 patients using the AmpliSeq Colon and Lung panel covering mutational hot spot regions of 22 cancer genes. Sequencing was performed with the Ion Torrent Personal Genome Machine (PGM). Results: Data analysis of the hot spot mutations revealed mutations in 77% of the patients, with 7% having 3 or more mutations reported in the Catalogue of Somatic Mutations in Cancer (COSMIC) database. Two of the most frequently mutated genes were TP53 (46%) and KRAS (25%). KRAS codon 12 mutations were the most recurrently occurring mutations. EGFR mutations were significantly associated with adenocarcinoma, female gender and never/light-smoking history; CTNNB1 mutations with light ex-smokers, PlIC3CA and TP53 mutations with squamous cell carcinoma, and KRAS with adenocarcinoma. TP53 mutations were most prevalent in current smokers and ERBB2, ERBB4, PIK3CA, NRAS, NOTCH1, FBWX7, PTEN and STK11 mutations occurred exclusively in a group of ever-smokers, however the association was not statistically significant. No mutation was found that associated with asbestos exposure. Conclusion: Finnish NSCLC patients have a similar mutation profile as other Western patients, however with a higher frequency of BRAF mutations but a lower frequency of STK11 and ERBB2 mutations. Moreover, TP53 mutations occurred frequently with other gene mutations, most commonly with KRAS, MET, EGFR and PIK3CA mutations. (C) 2016 Elsevier Ireland Ltd. All rights reserved.
Subject: Lung cancer
Non-small cell lung cancer
Mutation
HARBORING BRAF MUTATIONS
RECEPTOR GENE-MUTATIONS
SOMATIC MUTATIONS
EGFR
METAANALYSIS
KRAS
P53
ADENOCARCINOMAS
FEATURES
PERSPECTIVES
3111 Biomedicine
3122 Cancers
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