Your browser doesn't support javascript.
loading
Integrated molecular profiling of RAS, BRAF mutations, and mismatch repair status in advanced colorectal carcinoma: insights from gender and tumor laterality.
Remonatto, Gabriela; Ferreira Salles Pilar, Emily; de-Paris, Fernanda; Schaefer, Pedro Guilherme; Kliemann, Lúcia Maria.
Afiliación
  • Remonatto G; Pathology Service, Hospital de Clínicas de Porto Alegre, RS, Brazil.
  • Ferreira Salles Pilar E; Laboratory Research Unit, Hospital de Clínicas de Porto Alegre, RS, Brazil.
  • de-Paris F; Transplant and Personalized Medicine Unit of the Laboratory Diagnostic Service, Hospital de Clínicas de Porto Alegre, RS, Brazil.
  • Schaefer PG; Pathology Service, Hospital de Clínicas de Porto Alegre, RS, Brazil.
  • Kliemann LM; Pathology Service, Hospital de Clínicas de Porto Alegre, RS, Brazil.
J Gastrointest Oncol ; 15(4): 1580-1591, 2024 Aug 31.
Article en En | MEDLINE | ID: mdl-39279928
ABSTRACT

Background:

Colorectal carcinoma (CRC) is one of the most frequently diagnosed forms of cancer worldwide. The RAS (KRAS, NRAS) and BRAF genes encode proteins that are important therapeutic targets for the treatment of CRC and, together with the mismatch repair (MMR) system, are closely related to patient prognosis and survival in advanced CRC. Here we evaluate the mutational profile and the frequency of mutations in the KRAS, NRAS and BRAF genes, along with the expression of MMR in advanced CRC, at a tertiary hospital in southern Brazil.

Methods:

A cross-sectional retrospective study was carried out, where molecular analysis of mutations in the KRAS, NRAS and BRAF genes was carried out, as well as immunohistochemistry for MMR proteins.

Results:

Next-generation sequencing (NGS) analysis of 310 tumors revealed that 202 patients (65.2%) had mutations. The KRAS gene (53.2%) was the most frequently mutated in our sample, with G12D being the most frequent, representing 30.5% of the mutations in this gene. The most frequent mutation found in BRAF was V600E (n=25; 89.3%) and differed significantly in women and in the right colon in patients with MMR deficiency. Among the 283 patients tested for MMR, the rate of loss of expression was 8.8% (25/283).

Conclusions:

Deficiency in the MMR system is associated with the presence of the BRAF V600E mutation, tumors located in the right colon, and the female sex. In our case series, more than 60% of patients had at least one mutation in KRAS, NRAS, or BRAF. The presence of mutations in these genes is closely related to CRC prognosis and helps define the best therapeutic approach in patients with metastatic CRC.
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Gastrointest Oncol Año: 2024 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: China
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Gastrointest Oncol Año: 2024 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: China