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International Journal of Colorectal Disease
Published in: International Journal of Colorectal Disease 10/2011

01-10-2011 | Review

Multiple mutations in the Kras gene in colorectal cancer: review of the literature with two case reports

Authors: Mariana Petaccia Macedo, Louise De Brot Andrade, Renata Coudry, Rodrigo Crespo, Marina Gomes, Bianca Cristina Garcia Lisboa, Samuel Aguiar Jr, Fernando Augusto Soares, Dirce Maria Carraro, Isabela Werneck Cunha

Published in: International Journal of Colorectal Disease | Issue 10/2011

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Abstract

Purpose

Kras mutations are negative predictors of anti-EGFR therapy, occurring in 40% of colorectal carcinomas (CRCs). Point substitutions in codon 12 or 13 are the most frequent mutations in Kras, but multiple mutations (MMs) in other codons can also develop. Few data exist on MMs with regard to their frequency and the codons and amino acids that are affected. We report two cases of Kras double mutations in codons 12 and 13 and review Kras MMs in primary CRC in PubMed databases.

Case report

A 53-year-old woman and a 70-year-old man presented with deep, invasive, moderately differentiated CRC at an advanced clinical stage. The former had regional lymph node involvement and vaginal wall neoplastic implantation, and the latter had liver metastasis. Primary tumors were examined for Kras mutations by pyrosequencing, which were confirmed by direct sequencing. Both tumors had a mutation in codons 12 and 13, wherein codon 12 was mutated to GAT, and codon 13 became GAC.

Conclusions

We identified 69 reported cases of Kras MMs and reported two other cases, representing 2.1% of all mutated tumors; the incidence of such mutations is 1.0% in CRC patients. In most cases (59%), MMs develop in a single codon, usually codon 12. Codons 12 and 13 are affected simultaneously in only 27% of cases. These findings add information about the impact of specific amino acid changes in the Kras gene.
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Metadata
Title
Multiple mutations in the Kras gene in colorectal cancer: review of the literature with two case reports
Authors
Mariana Petaccia Macedo
Louise De Brot Andrade
Renata Coudry
Rodrigo Crespo
Marina Gomes
Bianca Cristina Garcia Lisboa
Samuel Aguiar Jr
Fernando Augusto Soares
Dirce Maria Carraro
Isabela Werneck Cunha
Publication date
01-10-2011
Publisher
Springer-Verlag
Published in
International Journal of Colorectal Disease / Issue 10/2011
Print ISSN: 0179-1958
Electronic ISSN: 1432-1262
DOI
https://doi.org/10.1007/s00384-011-1238-0

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