Impact of BRAF and MLH1 on Colorectal Cancer with Microsatellite Instability
Author Information
Author(s): Brim Hassan, Mokarram Pooneh, Naghibalhossaini Fakhraddin, Saberi-Firoozi Mehdi, Al-Mandhari Mansour, Al-Mawaly Kamla, Al-Mjeni Rayhaneh, Al-Sayegh Abeer, Raeburn Sandy, Lee Edward, Giardiello Francis, Smoot Duane T, Vilkin Alexander, Boland C Richard, Goel Ajay, Hafezi Mitra, Nouraie Mehdi, Ashktorab Hassan
Primary Institution: Howard University
Hypothesis
The study investigates the role of BRAF mutations and hMLH1 expression in the incidence of microsatellite instability high colorectal cancer across different populations.
Conclusion
The study found that African Americans have a higher incidence of microsatellite instability high colorectal cancer compared to Iranians and Omanis, with significant associations to BRAF mutations and hMLH1 expression.
Supporting Evidence
- 31% of African American tumors displayed microsatellite instability at two or more markers.
- 77% of MSI-H tumors in African Americans showed defects in hMLH1 gene expression.
- BRAF mutations were found in 10% of tumors in African Americans, 2% in Iranians, and 19% in Omanis.
- The study suggests that CRC occurs at a younger age in Omani and Iranian patients compared to African Americans.
- MSI-H tumors in African Americans may respond differently to chemotherapy compared to other populations.
Takeaway
This study looked at how certain genes affect colon cancer in different groups of people, finding that African Americans have more cases of a specific type of cancer that can be linked to gene changes.
Methodology
The study analyzed colorectal cancer samples from African American, Omani, and Iranian patients for microsatellite instability, gene expression, and mutations.
Potential Biases
Potential biases may arise from the self-identification of race and the limited sample size from specific populations.
Limitations
The study did not include other ethnic groups for comparison, which may limit the generalizability of the findings.
Participant Demographics
The study included 95 African American, 61 Omani, and 53 Iranian colorectal cancer patients.
Statistical Information
P-Value
p<0.05
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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