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Updated: Apr 25, 2026
A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors
Published on: December 7, 2014
Identification of 33 candidate oncogenes by screening for base-specific mutations
S Tuupanen1, U A Hänninen1, J Kondelin1
11] Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki 00014, Finland [2] Research Programs Unit, Genome-Scale Biology Research Program, University of Helsinki, Biomedicum, PO Box 63 (Haartmaninkatu 8), Helsinki FIN-00014, Finland.
Background:
Genes with recurrent codon-specific somatic mutations are likely drivers of tumorigenesis and potential therapeutic targets. Hypermutable cancers may represent a sensitive system for generation and selection of oncogenic mutations.
Methods:
We utilised exome-sequencing data on 25 sporadic microsatellite-instable (MSI) colorectal cancers (CRCs) and searched for base-specific somatic mutation hotspots.
Results:
We identified novel mutation hotspots in 33 genes. Fourteen genes displayed mutations in the validation set of 254 MSI CRCs: ANTXR1, MORC2, CEP135, CRYBB1, GALNT9, KRT82, PI15, SLC36A1, CNTF, GLDC, MBTPS1, OR9Q2, R3HDM1 and TTPAL. A database search found examples of the hotspot mutations in multiple cancer types.
Conclusions:
This work reveals a variety of new recurrent candidate oncogene mutations to be further scrutinised as potential therapeutic targets.
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