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Epidemiological and molecular evaluation of BRAF, KRAS, NRAS genes and MSI in the development of colorectal cancer

2023; Elsevier BV; Volume: 870; Linguagem: Inglês

10.1016/j.gene.2023.147395

1879-0038

Ana Paula Simedan Vila, Gabriela Helena Rodrigues, Ludmila Leite Marzochi, Juliana Garcia de Oliveira-Cucolo, Ana Lívia Silva Galbiatti, Rafael Felipe Maciel Andrade, Dalísio de Santi Neto, João Gomes Netinho, Lílian Castiglioni, Érika Cristina Pavarino, Eny Maria Goloni‐Bertollo,

Colorectal Cancer Screening and Detection

KRAS, NRAS, BRAF mutations and microsatellite instability (MSI) can be associated with Colorectal Cancer (CRC) development.We evaluated 828 medical records of CRC patients from a school hospital from January/2016 to December/2020. Variables such as age, gender, ethnicity, literacy level, smoking, alcoholism, primary anatomical site, tumor staging, presence of BRAFV600E, KRAS, NRAS mutations and MSI , survival and metastasis were identified. The statistical analyses were performed (p < 0.05 was considered significant).There was a predominance of males (51.93%), whites (90.70%), low education (72.34%), smokers (73.79%), and non-alcoholics (79.10%). Rectum was the most affected site (42.14%), advanced tumor stage was most prevalent (62.07%), and metastasis occurred in (64.61%). Of the enrolled patients; 204 were investigated for BRAF mutation and detected in (2.94%); 216 for KRAS gene and detected in (26.08%); 210 for NRAS gene, and detected in (25.36%); 370 for MSI and detected in (44.68%). A significant association of CRC with NRAS mutation and alcohol habit (p = 0.043) was observed. The presence of MSI was associated with primary site proximal colon (p < 0.000), distal colon (p = 0.001) and rectum (p = 0.010).Patients with CRC are male, over 64 years old, white, with low education, smokers and non-alcoholics. The most affected primary site is rectum in advanced stage with metastasis. CRC is associated with NRAS mutation and alcohol habit, there is increased risk for primary site of proximal colon and MSI; decreased risk for distal colon and rectum in the presence of MSI.