Biomedical
Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2022”
Peer Reviewed
Abstract
- Desmoid Tumors and Familial Adenomatous Polyposis:
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.
- Germline Genetic Basis of Cancer:
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.
- Colorectal Cancer Susceptibility:
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 for Cancer Prevention:
Mesalamine treatment in Lynch syndrome patients is being investigated for its potential to reduce colorectal neoplasia, improve tumor multiplicity outcomes, and decrease tumor progression.
- Sporadic and Hereditary CRC Screening:
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.
