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Hereditary colorectal cancer.

H T Lynch1, T C Smyrk

  • 1Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, NE 68178, USA.

Seminars in Oncology
|October 21, 1999
PubMed
Summary
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Hereditary colorectal cancer (CRC) is confirmed by germ-line mutations. Despite this knowledge, many familial adenomatous polyposis patients still die from metastatic CRC, indicating a gap in clinical application.

Area of Science:

  • Oncology
  • Genetics
  • Cancer Research

Background:

  • Germ-line mutations are definitively linked to hereditary colorectal cancers (CRCs).
  • Hereditary cancer syndromes, like familial adenomatous polyposis (FAP), have been recognized for over a century.
  • Molecular advancements are refining the understanding of genetic contributions to cancer.

Purpose of the Study:

  • To assess if clinical practices have integrated the knowledge of hereditary cancer factors for patient benefit.
  • To evaluate the translation of genetic discoveries into improved patient outcomes for hereditary CRC.

Main Methods:

  • Review of existing data on hereditary cancer syndromes.
  • Analysis of clinical outcomes for patients with familial adenomatous polyposis.

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  • Correlation of molecular genetic findings with clinical management strategies.

    • Main Results:

    • The role of genetics in cancer, specifically CRC, is unequivocally established.
    • Despite established knowledge of FAP, a significant percentage (59%) of patients succumb to metastatic CRC.
    • This suggests a disconnect between scientific understanding and clinical implementation.

    Conclusions:

    • Clinical management of hereditary colorectal cancer has not fully incorporated genetic insights.
    • There is a critical need to improve the translation of genetic knowledge into patient care to reduce mortality from hereditary cancers like FAP.