Lynch Syndrome is a hereditary disorder caused by a mutation in a mismatch repair gene in which affected individuals have a higher than normal chance of developing colorectal cancer, endometrial cancer, and various other types of aggressive cancers, often at a young age – also called hereditary nonpolyposis colon cancer. (HNPCC)
PROTECTING OUR FAMILIES AND OURSELVES
The mutations of specific mismatch repair (MMR) genes including but not limited to MLH1, MSH2, MSH6, PMS2, and EPCAM-TACSTD1 deletions are responsible for Lynch syndrome. These genes work in repairing mistakes made when DNA is copied in preparation for cell division. The defects in the genes disallow repair of DNA mistakes and as cells divide, errors stack and uncontrollable cell growth may result in cancer.
Having no gender, ethnic or cultural preferences, Lynch syndrome targets families, predisposing them to cancer at a younger than average age. Children of a Lynch syndrome parent possess a 50% risk of acquiring a mutation.
Those with Lynch syndrome carry up to an 85% risk of contracting colon cancer as well as a higher than average risk for endometrial cancer, stomach, pancreas, kidney/ureter tract, hepatobiliary tract, gastric tract, prostate, ovarian, gallbladder duct, brain, small intestine common breast and skin cancers.
In the United States alone up to 1 million people are projected to have Lynch syndrome but only 5% are currently diagnosed.
Lynch syndrome is not a rare condition but rather an extremely under diagnosed one!
Lives can be saved
Despite the odds, immense hope exists; thanks to modern technology and the passionate and diligent efforts of dedicated researchers and medical professionals. Though no cure has yet been discovered, through genetic testing, the risk for cancer in families can be identified. By exercising preventative measures (early diagnosis, surveillance and treatment), enhanced quality of life and longevity can be achieved and individuals and families can be protected from cancer.
Lynch syndrome is inherited through families. The first step of diagnosis of Lynch syndrome, in order to obtain provision of early and potentially life saving prevention measures, is by researching and documenting a comprehensive family history to present to one’s physician for assessment.
The only known method of accurately diagnosing Lynch syndrome is through genetic testing, the closest thing to a cure which is known today. If the family medical history indicates three family members, two of which are directly related to a third, and who each sustained Lynch cancers, genetic testing should be discussed with one’s physician.
Once Lynch syndrome has been diagnosed, a highly targeted screening and medical management program is essential and may be lifesaving. During routine surveillance screening, tumors may be discovered and are more easily removed or treated before becoming life threatening.