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Unraveling the link between GNAS R201 mutation and colorectal cancer
Mohammad Amin Behmanesh1,2, Paniz Rafiee3, Forough Eidikhosh2
1Department of Histology, School of Medicine, Dezful University of Medical Sciences, Dezful, Iran.
Scientific Reports
|August 30, 2025
Summary
The GNAS c.602G>A mutation was found in 35% of colorectal cancer (CRC) patients. This mutation is linked to larger tumor size, metastasis, and gender, suggesting its role in CRC progression.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Colorectal cancer (CRC) is a leading cause of cancer death globally.
- GNAS mutations, particularly at codon 201, are implicated in cancer progression and metastasis via cAMP signaling.
- Understanding GNAS mutation frequency and its pathological associations in CRC is crucial.
Purpose of the Study:
- To determine the frequency of the GNAS c.602G>A (p.Arg201His) mutation in colorectal cancer (CRC).
- To analyze the clinicopathological features of CRC tumors harboring this specific GNAS mutation.
Main Methods:
- DNA extraction from 40 CRC tissue samples.
- High-Resolution Melting (HRM) analysis for mutation screening.
- Sanger sequencing for mutation confirmation.
Main Results:
- The heterozygous GNAS c.602G>A mutation was identified in 14 out of 40 (35%) CRC patients.
- A significant association was observed between tumor size and lymphatic involvement (p<0.05).
- Tumor size also showed significant links with vascular metastasis and patient gender.
Conclusions:
- The GNAS c.602G>A mutation is present in a notable proportion of CRC cases.
- This mutation correlates with clinicopathological factors indicative of more aggressive disease.
- GNAS mutations may serve as potential biomarkers for CRC progression and therapeutic guidance.
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