Colon Cancer Screening (cont.)
Dennis Lee, MD
Dr. Lee was born in Shanghai, China, and received his college and medical training in the United States. He is fluent in English and three Chinese dialects. He graduated with chemistry departmental honors from Harvey Mudd College. He was appointed president of AOA society at UCLA School of Medicine. He underwent internal medicine residency and gastroenterology fellowship training at Cedars Sinai Medical Center.
In this Article
- Introduction to colon cancer screening and surveillance
- Screening recommendations for individuals with average risk of colon cancer
- Fecal occult blood tests
- Flexible sigmoidoscopy
- Screening colonoscopy
- Virtual colonoscopy
- Air contrast (double contrast barium enema)
- Surveillance recommendations for individuals with higher-than-average risk of colon cancer
- Patients with history of colon polyps
- Patients with history of colorectal cancer
- Patients with ulcerative colitis
- Family history of colorectal cancer
- What are hereditary colon cancer syndromes?
- Who should consider genetic counseling and testing and how is it conducted?
- Summary of colon cancer screening
What are hereditary colon cancer syndromes?
Hereditary colon cancer syndromes are caused by specific inherited changes in genes called mutations that are sufficient in themselves to cause colon polyps, colon cancers, and non-colonic cancers. Hereditary colon cancer syndrome can affect multiple members of a family. Approximately 5% of all colon cancers in the US are due to hereditary colon cancer syndromes. Patients who have inherited one of these syndromes have an extremely high risk for developing colon cancer, approaching 90%-100%. Fortunately, blood tests are now available to test for these hereditary colon cancer syndromes, once a syndrome has been suspected within a family.
Familial adenomatous polyposis (FAP)
Familial adenomatous polyposis, or FAP is a hereditary colon cancer syndrome in which the affected family members develop large numbers (hundreds, sometimes thousands) of colon polyps starting in their teens. Unless the condition is detected and treated early (treatment involves removal of the colon), a family member with the FAP syndrome is almost sure to develop colon cancer. Cancers most commonly begin to appear when patients are in their 40's, but can appear earlier. These patients also are at risk of developing other cancers such as cancers of the thyroid gland, stomach, and the ampulla (the part of the duodenum into which the bile ducts drain).
Attenuated familial adenomatous polyposis (AFAP)
Attenuated familial adenomatous polyposis, or AFAP is a milder version of FAP. Affected patients develop less than 100 colon polyps. Nevertheless, they are at high risk of developing colon cancers at a young age. They are also at risk for stomach and duodenal polyps.
Hereditary nonpolyposis colon cancer (HNPCC)
Hereditary nonpolyposis colon cancer, or HNPCC, is a hereditary cancer syndrome in which affected family members tend to develop colon cancers, usually in the right colon, in their 30's to 40's. Certain HNPCC patients also are at elevated risk for developing uterine cancer, stomach cancer, ovarian cancer, cancers of the ureters (the tubes that connect the kidneys to the bladder), cancers of the bile ducts (the ducts that drain bile from the liver to the intestines), and cancer of the brain and skin. Lynch Syndrome is another name for HNPCC.
MYH polyposis syndrome
The MYH polyposis syndrome is a recently discovered hereditary colon cancer syndrome. Affected patients typically develop 10-100 polyps during their 40's and are at high risk for developing colon cancer. The MYH syndrome is inherited in an autosomal recessive manner with each parent contributing one copy of the mutant gene. Most people with the MYH syndrome do not have a multigenerational family history of polyps or cancer of the colon but may have brothers or sisters with it.
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