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[Hereditary colorectal cancer].
A T Stormorken1, J Apold, K Heimdal
1Seksjon for medisinsk genetikk, Det Norske Radiumhospital, Oslo.
Summary
Approximately 13% of colorectal cancers are inherited, with genetic testing and regular screenings crucial for early detection and prevention. Identifying specific genetic syndromes aids in managing hereditary colorectal cancer risks.
Area of Science:
- Genetics
- Oncology
- Gastroenterology
Context:
- Colorectal cancer (CRC) presents a significant health burden, with a notable proportion linked to hereditary factors.
- Early diagnosis and treatment, including colonoscopy with polypectomy, are vital for improving CRC outcomes.
- Understanding the genetic underpinnings of hereditary CRC is essential for targeted management.
Purpose:
- To summarize the genetic basis of hereditary colorectal cancer syndromes.
- To outline diagnostic and prophylactic strategies for individuals and families at risk.
- To review potential chemopreventive measures for hereditary CRC.
Summary:
- Hereditary colorectal cancer accounts for about 13% of all cases, with five major genetic syndromes identified: familial adenomatous polyposis, hereditary non-polyposis colorectal cancer (Lynch syndrome), Cowden's syndrome, Peutz-Jegher's syndrome, and juvenile polyposis.
- These syndromes, responsible for most hereditary early-onset CRC, necessitate genetic evaluation and regular colonoscopies for affected families.
- Predictive genetic testing is available for families with known mutations, requiring accessible health services for mutation carriers.
- Prophylactic measures, including aspirin and resistant starch, show potential but require further investigation through multicenter studies.
Impact:
- Enhanced understanding of hereditary colorectal cancer facilitates personalized risk assessment and management strategies.
- Genetic evaluation and regular screening can significantly reduce morbidity and mortality associated with hereditary CRC.
- Further research into prophylactic interventions like aspirin and resistant starch may lead to novel prevention strategies for high-risk individuals.