Biomedical
Peer Reviewed
CTNNB1 mutations are linked to sporadic desmoid disease. Although APC mutations are mainly associated with inherited FAP, some sporadic desmoid cases may involve APC mutations that correlate with tumor development.
Large-scale sequencing has uncovered familial cancer patterns, revealing contributions from mutations like BRCA1/2 for breast cancer and Lynch syndrome genes for colorectal cancer. Genetic data helps estimate familial cancer risks and onset ages.
Whole exome/genome sequencing identified novel variants associated with colorectal cancer, including genes involved in immune response, apoptosis, and Wnt signaling. Some variants may contribute through polygenic interactions.
Mesalamine treatment in Lynch syndrome patients is being investigated for its potential to reduce colorectal neoplasia, improve tumor multiplicity outcomes, and decrease tumor progression.
In low-incidence populations, screening using FOBT and colonoscopy has been shown to improve early cancer detection. However, mortality rates remain high, suggesting more effective early screening strategies may be needed.
