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=Characteristics of KRAS and BRAF Genes, MMR Protein Expression Status, and MMR Genes in Colorectal Cancer Patients

0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: Bích Mai Bùi, Thị Kim Phượng Đoàn, Cẩm Phương Phạm

Ngôn ngữ: vie

Ký hiệu phân loại:

Thông tin xuất bản: Tạp chí Nghiên cứu y học (Đại học Y Hà Nội), 2024

Mô tả vật lý: tr.1-12

Bộ sưu tập: Metadata

ID: 244770

Thêm vào giỏ

Nghiên cứu này mô tả đặc điểm và biến thể gen KRAS, BRAF, các gen sửa chữa ghép cặp sai (MMRMismatch repair) và tình trạng biểu hiện protein MMR ở người bệnh ung thư đại trực tràng người Việt Nam. Người bệnh được chẩn đoán mắc ung thư đại trực tràng tại Trung tâm Y học hạt nhân và Ung bướu, Bệnh viện Bạch Mai từ tháng 1/2022 đến tháng 6/2023. Nghiên cứu theo phương pháp mô tả, hồi cứu kết hợp tiến cứu và lấy mẫu toàn bộ. Nghiên cứu 219 trường hợp ung thư đại trực tràng ghi nhận tỉ lệ đột biến gen KRAS, BRAF lần lượt là 47,9% và 5,9%
tỉ lệ mất biểu hiện protein MMR là 15,1% và phát hiện 08 biến thể trên gen MMR gây hội chứng Lynch. Nghiên cứu cho thấy có mối liên quan giữa giới tính và tình trạng đột biến gen KRAS, trong đó nữ giới có nguy cơ đột biến gen cao gấp 2,34 lần so với nam giới
có mối liên quan có ý nghĩa thống kê giữa tình trạng mất biểu hiện protein MMR (dMMR) và nhóm tuổi dưới 60 tuổi, có tiền sử gia đình liên quan Hội chứng Lynch, thể mô bệnh học ung thư biểu mô tuyến có thành phần chế nhày và vị trí u ở trực tràng.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.

1. Đọc trực tuyến

1. Đọc trực tuyến

Tạo bộ sưu tập với mã QR