Frequent MLL3 Mutations in Colorectal Cancer
Author Information
Author(s): Watanabe Yoshiyuki, Castoro Ryan J., Kim Hyun Soo, Oikawa Ritsuko, Hiraishi Tetsuya, Ahmed Saira S., Chung Woonbok, Cho Mee-Yon, Toyota Minoru, Itoh Fumio, Estecio Marcos R. H., Shen Lanlan, Jelinek Jaroslav, Issa Jean-Pierre J.
Primary Institution: The University of Texas M. D. Anderson Cancer Center
Hypothesis
Are MLL3 mutations present in colorectal cancer and how do they relate to methylation patterns?
Conclusion
The study found frequent frameshift mutations in MLL3 in colorectal cancer, particularly in microsatellite unstable cases, and no DNA methylation at the MLL3 loci.
Supporting Evidence
- MLL3 mutations were found in 19 out of 134 colorectal cancer samples analyzed.
- Frameshift mutations were more common in microsatellite unstable cases.
- The study identified two isoforms of MLL3.
- Age-related methylation was observed in normal colon tissue.
Takeaway
Scientists looked at cancer samples and found that a gene called MLL3 often has mistakes in it when people have colorectal cancer, especially in certain types of tumors.
Methodology
The study analyzed mutations and methylation in MLL3 using DNA from colorectal cancer samples and cell lines.
Limitations
The study may have underestimated the mutation rate of MLL3 due to not sequencing all exons in all tumors.
Participant Demographics
The study included colorectal cancer samples from various demographics, but specific details are not provided.
Statistical Information
P-Value
p<0.001
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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