Expression characteristics and risk analysis of BRCA1 and BRCA2 gene variants in colorectal cancer / 国际外科学杂志

ABSTRACT

Objective:To explore the relationship between the occurrence and development of colorectal cancer and the risk of BRCA1 and BRCA2 gene mutations. Methods:Sixty-one patients with colorectal adenocarcinoma admitted to Beijing Friendship Hospital Affiliated to Capital Medical University from January 2022 to March 2022 were tested by second-generation sequencing. Information such as age of onset, gender, histological grade and TNM stage were collected. According to whether the BRCA1 and BRCA2 gene had systemic mutation, the patients were divided into BRCA1 and BRCA2 gene system mutation group and unmutated group. There were 8 cases in the BRCA1 and BRCA2 gene system mutant group and 53 cases in the non-mutant group. The main outcome measures were the relationship between pathogenic or likely pathogenic germline mutations in colorectal cancer and clinicopathological data of patients, including age of onset, gender, tumor location, TNM stage, histological differentiation, and family history. The secondary outcome was the relationship between BRCA1 and BRCA2 gene system mutations and clinicopathological data. Measurement data with normal distribution were expressed as mean±standard deviation ( ± s), and comparison between groups was analyzed using the t-test. Measurement data with non-normal distribution were represented as M ( Q1, Q3), and comparison between groups was analyzed using the Mann-Whitney U test. Measurement data were expressed as the number of cases or percentage (%), and Chi-square test was used for comparison between groups. Results:Among 61 colorectal adenocarcinoma patients, the frequency of pathogenic or potentially pathogenic germ line mutations in colorectal cancer was 13.1% (8/61), and the frequency of BRCA1 and BRCA2 mutations was 3.3% (2/61). The frequency of BRCA1 and BRCA2 mutations was 13.1% (8/61). Women with BRCA1 and BRCA2 mutations (75.0% vs 37.7%, χ2=3.947, P=0.047) and right colon cancer (75.0% vs 26.4%, χ2=7.889, P=0.019) were significantly higher than those without mutation. Conclusions:The frequency of BRCA1 and BRCA2 gene mutation is higher in colorectal cancer patients. BRCA1 and BRCA2 gene mutations are recommended for colorectal cancer patients with a family history of breast or ovarian cancer.