[Detection of KRAS, BRAF, PIK3CA and EGFR gene mutations in colorectal carcinoma].

摘要: Objective To investigate the mutation frequencies of KRAS,BRAF,PIK3CA and EGFR genes that were effective on targeted therapies in colorectal carcinoma.Methods The tissue specimens from 331 cancer patients collected subject to analysis.Paraffin-embedded samples obtained macrodissection was performed enrich tumor cells for DNA extraction when necessary.PCR-based direct sequencing used codons 12 13 exon 2 KRAS gene,exons 11 15 BRAF 9 20 PIK3CA gene exons 18-21 gene.Results Activating mutations detected (44.1％,137/311),BRAF (5.8％,9/156),PIK3CA (2.6％,4/156) (1.3％,2/156) study cohort carcinoma cases.Among mutations,81.0％ (111/137) occurred codon 12,with p.G12D as most common variant(45.3％,62/137); 19.0％ (26/137) 13,with 38G ＞ A (G13D) variant(17.5％,24/137).Conclusions frequency is highest among four (KRAS,BRAF,PIK3CA EGFT) tested carcinoma.The presence these may provide therapeutic information therapy.Mutation analyses addition should be a part standard diagnostic algorithm patients. Key words: Colorectal neoplasms ;  mutational analysis;  Polymerase chain reaction; Sequence analysis