1. Đặc điểm gen KRAS, BRAF, các gen sửa chữa ghép cặp sai (MMR) và tình trạng biểu hiện protein MMR ở người bệnh ung thư đại trực tràng

Abstract

This study describes the characteristics and variants of KRAS and BRAF genes, as well as the status of MMR protein expression and MMR genes in Vietnamese patients with colorectal cancer. The patients were diagnosed with colorectal cancer at the Nuclear Medicine and Oncology Center, Bach Mai Hospital, from January 2022 to June 2023. The study employed a descriptive, retrospective, and prospective combined method with a whole-sample approach. In the study of 219 colorectal cancer cases, we observed KRAS and BRAF mutation rates of 47.9% and 5.9%, respectively; MMR protein loss rates of 15.1%; and identified 8 variants in the MMR genes associated with Lynch syndrome. The study found a significant association between gender and KRAS gene mutations, with females having a 2.34-fold higher risk of KRAS mutations compared to males. There was also a statistically significant association between the loss of MMR protein expression (dMMR) and age under 60, a family history of Lynch syndrome, mucinous adenocarcinoma histology, and rectal tumor location.