Lynch syndrome is an inherited cancer susceptibility syndrome caused by mutations in one of five DNA mismatch repair (MMR) genes.
Georgia Hurst is a patient advocate for those with Lynch syndrome. She has the MLH1 mutation and fortunately has never had any cancer. She is the co-creator of #GenCSM (Genetic Cancer Social Media) on Twitter, and her advocacy work has afforded her opportunities to write for medical journals, various websites and genetic testing companies, as well as collaborate as a stakeholder for the National Academy of Sciences: Genomics and Population Health Collaborative. Her loves include: her son, her dog, books, photography, long walks in the woods, and seeking out fungi after the rain. Her motto is: "There is enough misery in the world – there’s no need to contribute to it.”
What is Lynch syndrome?
Lynch syndrome is an inherited cancer susceptibility syndrome caused by mutations in one of five DNA mismatch repair (MMR) genes. It is passed down in families in a pattern called autosomal dominant, meaning that each child of someone with Lynch syndrome has a 50 percent chance to inherit the mutation from a parent. Both men and women can have Lynch syndrome and can pass it on to their sons and daughters. Of the estimated 1 million Lynch carriers in the United States, only about 5 percent know they carry a mutation. Mutation carriers have a substantially increased risk of cancers of the colon, rectum and endometrium, which generally occur at younger ages than in the general population. Lynch syndrome also increases the risk of cancer of the stomach, intestine, liver, pancreas, gallbladder ducts, upper urinary tract, brain, skin and, if you’re male, the prostate. Women with Lynch syndrome are also increased risk of developing cancer of the ovary and the breast.
In less than three weeks, I will be off to the Mayo Clinic in Rochester, Minnesota for my annual pilgrimage to find out if my DNA has decided to go rogue and manifest as cancer. I chose to go to Mayo after my diagnosis five years ago because I became very frustrated with my local doctors -- they knew very little about Lynch syndrome. I realized it was not my job to educate them about it and its surveillance measures. At Mayo, doctors who are highly familiar with Lynch and the various screening measures do my tests within a matter of a few days.
Many with Lynch do not have this option and it deeply concerns me, especially since I know many of them are not being properly screened. We with Lynch, should not be wondering whether or not our doctors our privy to frequent and much-needed Lynch screening measures and this is why, as a patient advocate for those with hereditary cancer syndromes, I frequently refer patients to places such as Mayo, where cutting-edge medicine is practiced and they base screening protocols on a person’s particular hereditary cancer syndrome and family medical history.
In a recent study,
it was explained, “Few patients whose families met clinical criteria for hereditary non-polyposis colorectal cancer (Lynch syndrome) had undergone genetic testing, and only a small percentage of their doctors had given them appropriate screening recommendations.”
This is a huge problem and why I cannot emphasize the importance of certified genetic counselors enough. Genetic counselors are certified, graduate-trained professionals who can help a patient understand whether or not he/she is at risk for a genetic mutation, which testing would be most beneficial and how to interpret and use test results. A certified genetic counselor can provide a patient with information that could potentially save his/her life and the lives of others in their family.
For more information or to find a certified genetic counselor, please go to nsgc.org
MA Founder and Executive Director of ihavelynchsyndrome.com