Lynch Syndrome Explained
- Lynch syndrome is a genetic mutation that leads to an increased risk of colorectal cancer.
- It also leads to an increased risk of other cancers, including uterine cancer, endometrial cancer, ovarian cancer and more.
- Genetic testing to screen for Lynch syndrome can be beneficial for some people fighting cancer.
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Read MoreUnderstanding Lynch Syndrome
According to the ACS, Lynch syndrome also leads to a high risk of developing endometrial cancer, along with cancers of the ovary, stomach, small intestine, pancreas, kidney, brain, ureters and bile duct. The ACS explains that this syndrome can be caused by a mutation in any of several mismatch repair (MMR) genes, including MLH1, MSH2, MSH6, PMS1, and PMS2. “These genes are normally involved in repairing damaged DNA. When one of these genes isn't working, cells can develop mistakes in their DNA, which might lead to other gene mutations and eventually cancer,” says the ACS. Related: Minority Communities Are Not Receiving Adequate Genetic Testing For Breast & Ovarian Cancer, Study Finds; This Can Be a Life-Saving ResourceDr. Ophira Ginsburg, a medical oncologist at NYU Perlmutter Cancer Center, says in an earlier interview, “About 20% of people with colon cancer have a family history, and about half of those, we know the risks are based on specific genes. Lynch syndrome is the most common cause of that small piece of the pie.”
“It’s very important to ask your health care provider if you might have Lynch syndrome, and if you can see a genetic counselor to discuss it further. In fact, there are a number of genes involved in Lynch syndrome. What is it really? It’s sometimes referred to as hereditary colon cancer, but that doesn’t really quite cover it. It includes an increased risk to colon cancer, rectal cancer, uterine or endometrial cancer, ovarian cancer, and a range of other cancers as well.”
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“And why is this important? Colon cancer is something that really should be completely preventable through screening and appropriate interventions, like removal of polyps for example. So individuals who carry one of the genes that’s associated with Lynch syndrome can be offered testing, certainly screening, at a much earlier age than you normally would have suggested by your care provider, even as early as the age of 25. We also would screen with a colonoscopy much more frequently.”
Inherited Genetic Disorders in Colon Cancer: Lynch Syndrome
Coping with Cancer & Lynch Syndrome
Some people with colorectal cancer also find that they have Lynch syndrome. Shannon Masur was one of those people. In an earlier interview, Masur says, “I was diagnosed with Lynch syndrome and Stage IIIA colorectal cancer. I grew up in an athletic family. I was a high school and college athlete. And I led a really healthy, active lifestyle. So when I was diagnosed, it was a shocker to me.”
“When they told me I was positive for it, I was– it was like a second punch in the gut, so to speak,” she says. “After having cancer, you think you’re already trying to battle cancer, and now I have to battle Lynch syndrome.”
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“I couldn’t function,” says Masur. “My thoughts were constantly, every day going to, ‘oh, my god. I feel a pain here. What is that? I have a new cancer. I have a pain over here. I have a new cancer.’ So it’s something that I’ve been able to get involved with organizations that deal with Lynch Syndrome. That has helped me handle and learn about the actual syndrome. I always say, the old cliche, ‘knowledge is power,’ and it really is, because it’s empowered me to learn more about this condition and use that information to go forward and not be afraid of Lynch syndrome.”
"I Learned to Not be Afraid": Survivor Shannon Masur Took on Cancer and Lynch Syndrome
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