Mismatch Repair Genes in Bladder Cancer
Author Information
Author(s): Kassem H Sh, Varley J M, Hamam S M, Margison G P
Primary Institution: CRC Carcinogenesis Group, CRC Cancer Genetics Groups, Paterson Institute for Cancer Research, Christie Hospital, Manchester, United Kingdom
Hypothesis
The study investigates the involvement of mismatch repair genes hMLH1 and hMSH2 in the pathogenesis of bladder cancer.
Conclusion
The study suggests that alterations in the structure and expression of DNA mismatch repair genes may be involved in the tumorigenesis and progression of bladder cancer.
Supporting Evidence
- Immunohistochemical analysis revealed marked intra and intertumour heterogeneity in the levels of expression of the two MMR proteins.
- One TCC lost MLH1 expression and one lost MSH2, while one SCC lost MSH2.
- A large proportion of analysed tumours showed less than 50% positivity for MLH1 and MSH2 expression.
- Complete loss of heterozygosity for MLH1 and MSH2 was rare, but allelic imbalance was detected in several informative microsatellite loci.
Takeaway
Researchers looked at two important genes in bladder cancer to see if they were working properly, and found that many tumors had problems with these genes.
Methodology
The study utilized quantitative immunohistochemical image analysis and PCR-based allelotype analysis.
Participant Demographics
Cohort of Egyptian bladder cancer samples.
Digital Object Identifier (DOI)
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