Abstract：
Globally, colorectal carcinoma CRC is the third most common cancer and the third most common reason for cancer-associated mortality in both genders. The GNAS mutations are significantly linked with poor prognosis and failed treatment outcomes in CRC. A systematic review and meta-analysis of multiple studies executed following Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) criteria and registered with PROSPERO (registration number: CRD42021256452). The initial search includes a total of 271 publications; however, only 30 studies that merit the eligibility criteria were eventually chosen. Data analysis via OpenMeta Analyst and comprehensive meta-analysis 3.0 (CMA 3.0) software were used to investigate the prevalence of GNAS gene mutation among CRC patients. The meta-analysis consisted of 10,689 participants with most being males 6068/10,689 (56.8%). Overall, prevalence of GNAS mutations was 4.8% (95% CI: 3.1−7.3) with I2 = 94.39% and (p < 0.001). In 11/30 studies, the frequency of GNAS gene mutations was majorly in codons R201C [40.7% (95% CI: 29.2−53.2%)] and in codon R201H [39.7% (95% CI = 27.1−53.8)]. Overall prevalence of GNAS mutations was highest among the male gender: 53.9% (95% CI: 48.2−59.5%: I2 = 94.00%, (p < 0.001), tumour location (colon): 50.5% (95% CI: 33.2−67.6%: I2 = 97.93%, (p < 0.001), tumour grade (Well): 57.5% (95% CI: 32.4−79.2%: I2 = 98.10%, (p < 0.001) and tumour late stage: 67.9% (95% CI: 49.7−84.3%: I2 = 98.%, (p < 0.001). When stratified according to study location, a higher prevalence was observed in Japan (26.8%) while Italy has the lowest (0.4%). Overall prevalence of GNAS gene mutations was 4.8% with codons R201C and R201H being the most mutated, and the results conformed with numerous published studies on GNAS mutation.
摘要：
全球范围内,结直肠癌是第三大常见癌症,也是两种性别中癌症相关死亡的第三大常见原因.GNAS突变与CRC的不良预后和失败的治疗结果显著相关。根据系统评价和荟萃分析（PRISMA）标准的首选报告项目并在PROSPERO注册（注册号：CRD42021256452）执行的多项研究的系统评价和荟萃分析。最初的搜索包括总共271种出版物；然而，最终仅选择了30项符合入选标准的研究.采用OpenMetaAnalyst和综合meta-analysis3.0(CMA3.0)软件对CRC患者GNAS基因突变的发生率进行分析。荟萃分析包括10,689名参与者，其中大多数是男性6068/10,689（56.8％）。总的来说,GNAS突变的患病率为4.8％（95％CI：3.1-7.3），I2=94.39％和（p<0.001）。在11/30研究中，在密码子R201C[40.7%(95%CI:29.2-53.2%)]和密码子R201H[39.7%(95%CI=27.1-53.8)]中,GNAS基因突变的频率主要.GNAS突变的总体患病率在男性中最高:53.9%(95%CI:48.2-59.5%:I2=94.00%,(p<0.001)，肿瘤位置（结肠）：50.5%（95%CI：33.2-67.6%：I2=97.93%，(p<0.001)，肿瘤分级（Well）：57.5%（95%CI：32.4-79.2%：I2=98.10%，（p＆lt;0.001）和肿瘤晚期：67.9％（95％CI：49.7-84.3％：I2=98。%,(p<0.001)。当根据研究地点分层时，日本的患病率较高(26.8%),而意大利的患病率最低(0.4%).GNAS基因突变的总体患病率为4.8％，密码子R201C和R201H突变最多，结果与大量已发表的关于GNAS突变的研究一致。
