KRAS insertions in colorectal cancer: What do we know about unusual KRAS mutations?


Autoria(s): Macedo, Mariana Petaccia de; Cernaglia Aureliano de Lima, Luiz Guilherme; Ferreira de Souza Begnami, Maria Dirlei; Melo, Fernanda Machado de; Brot Andrade, Louise D.; Garcia Lisboa, Bianca Cristina; Soares, Luisa Martelli; Soares, Fernando Augusto; Carraro, Dirce Maria; Cunha, Isabela Werneck da
Contribuinte(s)

Universidade Estadual Paulista (UNESP)

Data(s)

03/12/2014

03/12/2014

01/04/2014

Resumo

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Processo FAPESP: 11/08510-2

Introduction: KRAS mutations are negative predictors of the response to anti-EGFR therapy in colorectal carcinomas (CRCs). Point mutations in codons 12,13, and 61 are the most common KRAS mutations in CRC There are few reports on insertions in KRAS, and little is known about its ability to activate the RAS pathway. The scarcity of data regarding insertion frequencies and nucleotide additions in KRAS impedes the management of patients with such mutations. We present data on KRAS insertions in CRC and discuss a case.Materials and methods: Pyrosequencing and Sanger sequencing were performed to identify KRAS and BRAF mutations in paraffin-embedded samples of CRC Expression of mismatch repair proteins was examined by immunohistochemistry.Results: We detected a GGT insertion between codons 12 and 13 (c.36_37insGGT;p.G12_G13insG) in a CRC patient. We found that insertions in KRAS is very rare in CRC and that the most frequent type of insertion is c36_37insGGT.Conclusions: KRAS gene insertions represent a diagnostic and clinical challenge due to the difficult and unusual pyrosequencing findings and the lack of information regarding its clinical impact. (C) 2014 Elsevier Inc. All rights reserved.

Formato

257-260

Identificador

http://dx.doi.org/10.1016/j.yexmp.2014.02.014

Experimental And Molecular Pathology. San Diego: Academic Press Inc Elsevier Science, v. 96, n. 2, p. 257-260, 2014.

0014-4800

http://hdl.handle.net/11449/111751

10.1016/j.yexmp.2014.02.014

WOS:000334655100020

Idioma(s)

eng

Publicador

Elsevier B.V.

Relação

Experimental and Molecular Pathology

Direitos

closedAccess

Palavras-Chave #Molecular pathology #Genetics #KRAS mutation #Colorectal cancer
Tipo

info:eu-repo/semantics/article