Concurrent mutation in exons 1 and 2 of the K-ras oncogene in colorectal cancer

Raffaele Palmirotta, Annalisa Savonarola, Giorgia Ludovici, Maria Laura de Marchis, Renato Covello, Giuseppe Maria Ettorre, Cristiano Ialongo, Fiorella Guadagni

Research output: Contribution to journalArticlepeer-review

Abstract

The K-ras gene is frequently mutated in colorectal cancer and has been associated with tumor initiation and progression; approximately 90% of the activating mutations are found in codons 12 and 13 of exon 1 and just under 5% in codon 61 located in exon 2. These mutations determine single aminoacidic substitutions in the GTPase pocket leading to a block of the GTP hydrolytic activity of the K-ras p21 protein, and therefore to its constitutive activation. Point mutations in sites of the K-ras gene, other than codons 12, 13 and 61, and other types of genetic alterations, may occur in a minority of cases, such as in the less frequent cases of double mutations in the K-ras gene. However, all mutations in this gene, even those which occur in non-canonical sites or double mutations, are relevant oncogenic alterations in colorectal cancer and may underlie K-ras pathway hyperactivation. In the present study, we report the case of a patient with colorectal cancer presenting a concurrent point mutation in exons 1 and 2 of the K-ras gene, a GGT to TGT substitution (Glycine to Cysteine) at codon 12, and a GAC to AAC substitution (Aspartic Acid to Asparagine) at codon 57. In addition, we found in the same patient's sample a silent polymorphism at codon 11 (Ala11Ala) of exon 1.

Original languageEnglish
Pages (from-to)729-733
Number of pages5
JournalFolia Histochemica et Cytobiologica
Volume49
Issue number4
DOIs
Publication statusPublished - 2011

Keywords

  • Colorectal cancer
  • Double mutation
  • K-ras

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology

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