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DNA Test Is a Major Advance in Screening for Colon Cancer

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Here’s news about a major advance in colorectal cancer screening and detection. Dr Sanford Markowitz is a leading colorectal researcher. He is featured in this video from Case Western Reserve Medical Center in Cleveland where he describes a new, commercially available test for detecting colorectal cancer with an impressive 80% accuracy. The test is called Colosure and covered by a number of insurance plans. It is important to remember that it is not a substitute for colonoscopy, which still remains the “gold standard”. Nevertheless, it represents the future of our ability to detect cancer earlier with genetic and molecular tests. For more information, check out my blog “Why Does Family History Matter?

Here are examples of cancers that have been linked to family history and genetics from our companion website patientresource.net:

Abnormalities in the BRCA1 and BRCA2 (breast cancer 1 and breast cancer 2) genes were among the first cancer-related gene mutations to be identified. Mutations in either of these genes increase the risk for breast and ovarian cancer (see Table 2 on page 41). Thus, this hereditary cancer is referred to as hereditary breast and ovarian cancer syndrome. The risk of certain other cancers may also be higher in people with this cancer syndrome.

There are several forms of hereditary colorectal cancer. The most common form is hereditary nonpolyposis colorectal cancer (or Lynch syndrome). This hereditary cancer syndrome is also associated with an increased risk of uterine and ovarian cancer as well as upper-gastrointestinal tract cancers and cancer of the urinary tract and kidney. Other types of hereditary colorectal cancer syndromes are associated with multiple polyps that grow in the colon. The most common of these polyposis syndromes include familial adenomatous polyposis (FAP), attenuated FAP (AFAP), and MYH-associated polyposis (MAP). In FAP, hundreds to thousands of polyps develop in the colon over a lifetime, and they can start developing as early as childhood. In AFAP, fewer than 100 polyps usually develop. In MAP, the number of polyps that develops ranges from a few polyps to thousands. Additional polyposis syndromes exist, and your doctor may suggest that you be tested for these syndromes, depending on the number and type of polyps seen on colonoscopy.

A genetic mutation has also been linked to melanoma. Hereditary melanoma is not as well understood as the other hereditary cancer syndromes, and researchers continue to learn more about the genetic mutations that may be responsible for this hereditary cancer. Hereditary melanoma is also associated with an increased risk for pancreatic cancer.


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