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Diseases

Genetic and Rare Diseases Information Center (GARD)

Familial colorectal cancer


Other Names for this Disease
  • Colorectal cancer, familial
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Overview

Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered "hereditary" and is thought to be caused by an inherited predisposition to colon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC, MYH, MLH1, MSH2, MSH6, PMS2, EPCAMPTEN, STK11, SMAD4, BMPR1A, NTHL1, POLE, and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle.[1][2][3] High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.[1][4]
Last updated: 4/26/2016

References

  1. Genetics of Colorectal Cancer–Health Professional Version (PDQ®). National Cancer Institute. February 2016; http://www.cancer.gov/types/colorectal/hp/colorectal-genetics-pdq.
  2. Burt Cagir, MD, FACS. Rectal Cancer. Medscape Reference. March 2016; http://emedicine.medscape.com/article/281237-overview.
  3. Learning About Colon Cancer. National Human Genome Research Institute. March 2012; https://www.genome.gov/10000466.
  4. Colorectal Cancer Screening–Health Professional Version (PDQ®). National Cancer Institute. January 2016; http://www.cancer.gov/types/colorectal/hp/colorectal-screening-pdq.
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Basic Information

  • You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
  • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial colorectal cancer. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Colorectal cancer, familial
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.