Familial colorectal cancer: risk factors, screening strategies and personalized medicine - PubMed
6 hours ago
- #familial colorectal cancer
- #personalized medicine
- #screening strategies
- Approximately 25-30% of colorectal cancer (CRC) cases have a familial component, often due to germline mutations in DNA mismatch repair genes (Lynch syndrome) or the APC gene (familial adenomatous polyposis).
- Challenges include identifying at-risk individuals, optimizing surveillance strategies, and addressing disparities in access to genetic testing and preventive care.
- Modifiable risk factors such as diet, obesity, smoking, and gut microbiome alterations influence disease penetrance and clinical outcomes.
- Emerging predictive models integrate family history, polygenic risk scores, and proteomic biomarkers for better risk stratification and tailored screening.
- Novel non-invasive biomarkers like circulating tumor DNA and stool RNA tests show promise in enhancing patient adherence and complementing colonoscopy.
- Artificial intelligence-assisted endoscopy and comprehensive genetic panels are advancing precision oncology by improving adenoma detection and guiding targeted therapies.
- Addressing social determinants of health and structured genetic counseling are essential for equitable CRC prevention.
- Transitioning from age-based to individualized, risk-adapted screening paradigms can reduce CRC incidence and mortality, especially in genetically predisposed populations.