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.

Colon cancer can be a “silent killer” because it can grow for some time without causing any symptoms. Sometimes a colon cancer can be quite advanced before a person knows it is there. That is the bad news. The good news is that colon cancer is preventable or curable if it is discovered early. The best way to do that is to have a full colonoscopy to visualize the entire length of the colon and biopsy or remove any polyps or abnormalities. Colonoscopy is not a particularly comfortable procedure, but it can be a lifesaver. Typically, the first colonoscopy is recommended at age 50. However, it may be necessary to start at an earlier age, especially for those who have increased risk such as having ulcerative coloitis or a family history of colorectal cancer.

For those of you interested in learning more about screening for colon cancer, this video offers a good overview and dispels some common myths.

Here is a 14 second segment view of a colon cancer seen through a scope. Not very pleasant, but an important view if you’re looking for cancer. There are other options such as a virtual colonoscopy. Using a computerized tomography (CT) or magnetic resonance imaging (MRI), clinicians get an animated 3-D view of the inside of your large intestine. However, if the virtual colonoscopy does show signs of pre-cancerous growths, called polyps, then a colonoscopy is necessary to verify the findings. Here’s more information from our companion website, patientresource.net:

Most cancers of the large intestine are believed to have developed from polyps. Polyps are benign tumors of the large intestine. Polyps are not life threatening, and they can be easily removed during a colonoscopy, a common screening test for colon cancer. There is strong evidence though that patients who form multiple polyps in their colon or rectum are at higher risk for developing colorectal cancer. If benign polyps are not removed from the large intestine, they can become cancerous over time. Finding and removing polyps are now known to be important in preventing colorectal cancer. The American Cancer Society recommends a baseline colonoscopy when people reach age 50 and then every 10 years or so, depending upon the findings. This is especially true for individuals who have a history of colon or rectal cancer in their family.