A GNAS Gene Mutation's Independent Expression in the Growth of Colorectal Cancer: A Systematic Review and Meta-Analysis
- PMID: 36428574
- PMCID: PMC9688108
- DOI: 10.3390/cancers14225480
A GNAS Gene Mutation's Independent Expression in the Growth of Colorectal Cancer: A Systematic Review and Meta-Analysis
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.
Keywords: CRC; GNAS gene mutations; colon cancer; colorectal cancer.
Conflict of interest statement
The authors declare no conflict of interest.
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References
-
- Steffen D.J., Amornphimoltham P., Valera J.L.C., Taylor S., Hunter T., Tamayo P., Gutkind J.S. GNAS-PKA Oncosignaling Network in Colorectal Cancer. FASEB J. 2018;32:695–699. doi: 10.1096/fasebj.2018.32.1_supplement.695.9. - DOI
-
- Ohtsuka T., Tomosugi T., Kimura R., Nakamura S., Miyasaka Y., Nakata K., Mori Y., Morita M., Torata N., Shindo K. Clinical Assessment of the GNAS Mutation Status in Patients with Intraductal Papillary Mucinous Neoplasm of the Pancreas. Surg. Today. 2019;49:887–893. doi: 10.1007/s00595-019-01797-7. - DOI - PubMed
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