Genetic Analysis of APC Gene in Colorectal Cancer
Author Information
Author(s): Figer A, Irmin L, Geva R, Flex D, Sulkes A, Friedman E
Primary Institution: The Institute of Oncology, Rabin Medical Center, Belinson Campus, Petach Tikvah
Hypothesis
Germline mutations within specific regions of the APC gene might contribute to early onset or familial colorectal cancer susceptibility.
Conclusion
In Israeli individuals with early onset or familial colorectal cancer, truncating mutations in the APC gene regions associated with attenuated APC phenotype probably contribute little to disease pathogenesis.
Supporting Evidence
- No inactivating, disease-associated mutations were detected in any patient.
- A novel polymorphism in intron 5 was detected in 16 individuals.
- 8 patients were carriers of the 11307K variant, a mutation prevalent among Jewish individuals with colorectal cancer.
- 4 displayed the E1317Q variant.
Takeaway
The study looked at a group of people with early colorectal cancer to see if certain gene changes were causing it, but they found that these changes likely don't play a big role.
Methodology
The study analyzed mutations in specific APC gene regions using denaturing gradient gel electrophoresis and protein truncation test.
Participant Demographics
Israeli patients with early onset or familial colorectal cancer.
Digital Object Identifier (DOI)
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