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[Hereditary colorectal cancer].

A T Stormorken1, J Apold, K Heimdal

  • 1Seksjon for medisinsk genetikk, Det Norske Radiumhospital, Oslo.

Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|December 11, 1999
PubMed
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.

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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.

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  • 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.