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Lynch syndrome and living with HNPPC

photo of a tablet with the diagnosis colon cancer on the display | GI NorthFamily medical history can be an invaluable tool in assessing one’s own risk of similar conditions. With Lynch syndrome, a condition also known as hereditary nonpolyposis colorectal cancer (HNPCC), knowing your family history is not only helpful, it may be life-saving.

Understanding Lynch syndrome

HNPCC is the most common form of hereditary colon cancer, accounting for up to 5 percent of all cases each year. This equates to around 7,500 new cases of HNPCC in the United States annually. HNPCC is caused by a mutation in one of the genes that help DNA to repair itself.

Some genetic disorders are autosomal recessive, meaning that they require two copies of a defective gene (one from each parent) in order for the disease to occur. HNPCC is an autosomal dominant disorder, meaning that inheriting the mutated gene from only one parent is enough to cause the condition to develop. This also means that, in a family with one affected parent, about one-half of the children will also be affected.

Cancer screening and HNPCC

Oftentimes, the development of colon cancer is preceded for many years by the formation of polyps. These serve as a kind of ‘red flag’ that can be detected and removed during routine or diagnostic tests such as colonoscopy. Removal of colon polyps prevents these areas of abnormal tissue from developing into cancerous lesions.

In HNPCC, polyps do not form, leaving no early warning signs to find or treat. Furthermore, colon cancer develops at a much younger age and progresses far more rapidly for people with HNPCC, making awareness of a family history of HNPCC of utmost importance for early screening and prevention. Whereas colon cancer does not tend to arise in the general population until around the age of retirement, people with HNPCC should expect to begin regular colon cancer screening exams in their 20s.

Living with Lynch syndrome

Regular cancer screening is essential to living with Lynch syndrome. People with HNPCC have a 70-80% lifetime risk of developing colon cancer. People with HNPCC who have already been diagnosed with a metastatic colon cancer, are at a significantly increased risk of developing another primary colon cancer. HNPCC also carries with it an increased risk for other forms of cancer, such as endometrial, pancreatic and stomach cancer.

With early cancer detection and treatment, people living with Lynch syndrome can expect to lead healthy and full lives. Initiation of regular colorectal and other forms of cancer screening drastically reduces the morbidity and mortality rates associated with HNPCC. Anyone with Lynch syndrome should undergo a colonoscopy every 1-2 years from the age of 20-25 years or 5 years before the first diagnosed colorectal cancer in the family, whichever is earlier. After the age of 35-40 years, colonoscopy should be performed every year.

Finding your HNPCC healthcare team

While this article is intended to be informative, it cannot take the place of professional medical advice. If you have concerns regarding your risk of HNPCC-associated health conditions, please contact a healthcare provider near you.

Consider making GI North your Lynch syndrome support team. Specialists in the diagnosis and treatment of gastrointestinal conditions, Dr. Cofrancesco and Dr. Quijano make GI North your neighborhood destination for information, treatment and support for any issue related to HNPCC or other GI disorders. For appointments in Spanish, please ask for Dr. Quijano. The GI North location makes GI health services readily accessible to the Cumming, Alpharetta, Milton, Roswell, Canton, and Suwanee, Georgia areas.

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