{Reference Type}: Journal Article
{Title}: Comprehensive analysis of gene mutations and mismatch repair in Chinese colorectal cancer patients.
{Author}: Chen H;Jiang RY;Hua Z;Wang XW;Shi XL;Wang Y;Feng QQ;Luo J;Ning W;Shi YF;Zhang DK;Wang B;Jie JZ;Zhong DR;
{Journal}: World J Gastrointest Oncol
{Volume}: 16
{Issue}: 6
{Year}: 2024 Jun 15
暂无{DOI}: 10.4251/wjgo.v16.i6.2673
{Abstract}: <B>BACKGROUND: </B>RAS, BRAF, and mismatch repair (MMR)/microsatellite instability (MSI) are crucial biomarkers recommended by clinical practice guidelines for colorectal cancer (CRC). However, their characteristics and influencing factors in Chinese patients have not been thoroughly described.<BR><B>OBJECTIVE: </B>To analyze the clinicopathological features of KRAS, NRAS, BRAF, and PIK3CA mutations and the DNA MMR status in CRC.<BR><B>METHODS: </B>We enrolled 2271 Chinese CRC patients at the China-Japan Friendship Hospital. MMR proteins were tested using immunohistochemical analysis, and the KRAS/NRAS/BRAF/PIK3CA mutations were determined using quantitative polymerase chain reaction. Microsatellite status was determined using an MSI detection kit. Statistical analyses were conducted using SPSS software and logistic regression.<BR><B>RESULTS: </B>The KRAS, NRAS, BRAF, and PIK3CA mutations were detected in 44.6%, 3.4%, 3.7%, and 3.9% of CRC patients, respectively. KRAS mutations were more likely to occur in patients with moderate-to-high differentiation. BRAF mutations were more likely to occur in patients with right-sided CRC, poorly differentiated, or no perineural invasion. Deficient MMR (dMMR) was detected in 7.9% of all patients and 16.8% of those with mucinous adenocarcinomas. KRAS, NRAS, BRAF, and PIK3CA mutations were detected in 29.6%, 1.1%, 8.1%, and 22.3% of patients with dMMR, respectively. The dMMR was more likely to occur in patients with a family history of CRC, aged < 50 years, right-sided CRC, poorly differentiated histology, no perineural invasion, and with carcinoma in situ, stage I, or stage II tumors.<BR><B>CONCLUSIONS: </B>This study analyzed the molecular profiles of KRAS, NRAS, BRAF, PIK3CA, and MMR/MSI in CRC, identifying key influencing factors, with implications for clinical management of CRC.