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February 10, 2012

Colon Cancer Prevention (cont.)

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What about genetic testing for colon cancer?

Genetic testing using blood tests are now available to identify patients with hereditary colon cancer syndromes. Hereditary colon cancer syndromes are caused by specific inherited 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.

MYH polyposis syndrom. 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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  • Related Diseases & Conditions

    • Colon Cancer
      • Colon cancer is a malignancy that arises from the inner lining of the colon. Most, if not all, of these cancers develop from colonic polyps. Removal of these precancerous polyps can prevent colon cancer.
    • Colitis
      • Inflammation of the inner lining of the colon is referred to as colitis. Symptoms of the inflammation of the colon lining include diarrhea, pain, and blood in the stool. There are several causes of colitis including infection, ischemia of the colon, inflammatory bowel disease (Crohn's disease, Ulcerative colitis, or microscopic colitis). Treatment depends on the cause of the colitis.
    • Colon Polyps
      • A colon polyp is a benign tumor of the large intestine. Benign polyps do not invade nearby tissue or spread to other parts of the body. Benign polyps can easily be removed during colonoscopy and are not life threatening. If benign polyps are not removed from the large intestine, they can become malignant over time.
    • Anal Cancer
      • Anal cancer, cancer located at the end of the large intestine, has symptoms that include anal or rectal bleeding, anal pain or pressure, anal discharge or itching, a change in bowel movements, and/or a lump in the anal region. Treatment for anal cancer may involve radiation, chemotherapy, or surgery and depends upon the stage of the cancer, its location, whether cancer is eradicated after the first treatment, and whether the patient has HIV.
    • Melanosis Coli
      • Melanosis coli is a condition that is often associated with prolonged laxative use.
    • Gardner's Syndrome (Familial Adenomatous Polyposis)
      • Gardners' syndrome, or familial adenomatous polyposis (FAP), is an inherited condition in which cancer of the colon and rectum develop. Colon polyps and growths may develop as early as the teens. If these polyps are not removed, they will become cancerous. There are different inheritance patterns for familial adenomatous polyposis.
    • Healthy Living & Disease Prevention
      • The importance of a healthy lifestyle in disease prevention is widely understood and most people know that lifestyle changes and choices can be critical to good health. Yet, few practice healthy behaviors that constitute healthy living.
    • Disease Prevention in Men
      • Disease prevention in men includes routine screening tests that are part of basic prevention medicine. Take an active role in your own health care and discuss screening tests with your doctor early in life. Age of screening and timing of screening depends upon the condition being assessed.
    • Disease Prevention in Women
      • Disease prevention in women includes screening tests that are a basic part of prevention medicine. All screening tests are commonly available through your general doctor. Some specialized tests may be available elsewhere.
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