Study: 1 in 6 Colon Cancer Patients Have Hereditary Gene Mutations

What makes colon cancer so troubling is that, in many cases, the disease is not discovered until it’s too late. Early detection is essential because it helps to lengthen the life expectancy for those diagnosed with the disease. Unfortunately, most people suffering from colon do not notice any symptoms, let alone expect cancer. Some people may experience stomach pain or discomfort, but most say little or nothing. As a result, if someone finds out they have colorectal cancer when they’re feeling well, they may not receive the appropriate treatment. What does this mean if you are diagnosed with colon cancers or if colon cancer runs in your family? Genetic testing can be extremely important to you and your family as it could save lives. New studies are shedding further light on the genetic aspect of colon cancer.

One of those new studies is out of the Mayo Clinic, this study bolsters evidence that colon cancer is often inherited from family genetics and is passed on from one generation to the next. The study, published in Clinical Gastroenterology and Hepatology, reported that researchers at the Mayo Clinic found “1 in 6 patients with colorectal cancer had an inherited cancer-related gene mutation, which likely predisposed them to the disease.”

Furthermore, the study found that 60% of colon cancer cases may not have been detected if relying on a standard guideline-based approach. “We found that 15.5% of the 361 patients with colorectal cancer had an inherited mutation in a gene associated with the development of their cancer,” says Dr. Niloy Jewel Samadder, a Mayo Clinic gastroenterologist and hepatologist, who is the study’s senior author. “We also found that over 1 in 10 of these patients had modifications in their medical or surgical therapy based on the genetic findings.”

Why is genetic Testing so Important? 

Research has shown that up to 10% of all cancers are hereditary, these include breast and colon cancers. Research has also shown that certain genes, that when mutated, can increase your risks of developing disease. Genetic mutations in genes such as BRAC1 and  BRAC2 is why it is important to know your personal and family’s genetic profiles. Dr. Michael Birrer, professor at the University of Alabama Birmingham–UAB Comprehensive Cancer Center, explains the importance of genetic testing in an earlier interview, particularly as it pertains to ovarian cancer. “How does genetics play a role in managing patients? This part of the field has really radically changed,” says Dr. Birrer. “Our understanding of the role of genetics in the development of ovarian cancer has evolved very rapidly in the last five to 10 years. So it used to be the dogma that about 8% of ovarian cancer had a family history. And those are the patients who had some sort of genetic basis. We now know that that’s not true.”

“It’s more likely about 20% of ovarian cancer patients who come in the door of the clinic actually have a germline abnormality, either in BRCA1 or 2 or one of the other genes in the Fanconi pathway. So you have to focus on that and realize what that means. 3/4 of those patients of that 20%, 3/4 of them, have no family history. They don’t know that they have a genetic abnormality.” “And these patients used to be treated, and we would never really understand that or counsel them,” he says. “And they would pass that gene on to their kids with dire consequences.”

What does this mean for you and your family?

Genetic testing can further the information on the genes you or a loved one carry. Research shows that genetic testing can help your provider recommend more precise treatment options. Genetic testing can also help you determine whether you (or your loved ones) are at an increased risk for cancer and how to improve the prognosis.

Vita Medical Solutions is proud to partner with laboratories to facilitate access to advanced hereditary cancer (CGx) genetic testing.

Learn more about your personal and family genetic makeup and personalized medicine options through our genetic test offerings. Read more specifically about CGx testing here:

With qualifying insurance, this test can cost you nothing out of pocket. Click below to schedule a call with one of Vita Medical’s Patient Services Consultants to find out your eligibility.

Call us 1.800.590.9292 (toll free) or email at [email protected].

Test. Know. Educate. Advocate.

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