Cancer risk rises with this little-known syndrome. Here’s how to know if you have the genetic condition
Lynch syndrome is a genetic disorder that makes someone more susceptible to many different kinds of cancer. Two experts spoke with Fox News Digital about what people should know.
As colorectal cancer continues to spike among younger patients, doctors are warning of a little-known but widespread condition that greatly increases the risk.
Lynch syndrome is a genetic disorder that makes someone more susceptible to many different kinds of cancer.
Fox News Digital spoke with two experts about what people should know about this inherited condition.
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Dr. Matthew Grossman, an interventional endoscopist and gastroenterologist with Atlantic Health System in New Jersey, explained the relationship between Lynch syndrome and human DNA.
"Think of DNA as a ladder," he said. "Normally, errors in the rungs — called mismatches — are fixed by a repair system. In Lynch syndrome, this system is faulty, increasing the risk of mismatches."
Because of the mismatch repair defect, a person with Lynch syndrome is much more likely to develop abnormalities and defects in cells, which eventually lead to cancer, he said.
"Lynch syndrome is a type of germline mutation, meaning it’s inherited genetically, versus a somatic mutation, which can happen spontaneously to only a few cells," said Grossman.
Dr. Ajay Bansal, a gastroenterologist at KU Medical Center at the University of Kansas, emphasized that Lynch syndrome largely flies under the radar, as 95% of patients who have the condition don’t know about it.
"They are not aware that they are at increased risk for not only colon cancer, but also uterine, ovarian, stomach, small bowel, kidney, bladder and perhaps brain cancer," he told Fox News Digital. "So it's very underdiagnosed."
One of the reasons the syndrome often goes unnoticed is because it’s a "silent" condition, Bansal said. "It doesn't cause any symptoms until you have cancer."
The two main cancers tied to the syndrome are colon and colorectal cancer and cancer of the uterus.
"Lynch syndrome can result from four or five different mutations," Bansal said. "Depending on the mutation, the type of cancer risk changes."
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For example, for those who have a mutation in a gene called MLH1, the risk of getting colorectal cancer at some point in their lifetime is 80%, Bansal warned.
Among young-onset colorectal cancers, the doctor estimated that roughly 25% are a result of Lynch syndrome.
Lynch syndrome can be diagnosed by either a blood test or saliva test, Bansal said.
"If a patient has a family history of multiple colon cancers or multiple other cancers in the family, or if somebody in the family had colon cancer or uterine cancer under the age of 50, we recommend genetic testing to confirm the syndrome," he said.
Patients who fall into these categories are typically tested for Lynch between the ages of 18 to 25, the doctor said.
Universal genetic testing is not generally performed.
"It's not approved for the general population, mainly because of costs and insurance concerns," Bansal noted.
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Before genetic testing was available, clinicians relied on the "3,2,1 criteria" for diagnosing Lynch syndrome, according to Grossman.
"For that criteria, if patients have three or more relatives with one of the affecting cancers on the same side of the family, and this is seen in two or more generations with at least one person under age 50, that is highly diagnostic of Lynch syndrome and they should discuss the condition with a doctor," he said.
There is no treatment or "cure" for Lynch syndrome, as it's caused by a genetic mutation.
Those who test positive should closely monitor themselves for the warning signs of cancer through regular screenings — especially colonoscopies, Bansal said.
In the general population, among people without Lynch syndrome, it is recommended to start colonoscopies at the age of 45.
In patients with Lynch syndrome — especially those with more aggressive phenotypes and genotypes — Bansal recommended starting colonoscopies at the age of 25 and repeating them every one to two years.
"The idea here would be to monitor closely so we can prevent colon cancer by removing polyps or catching it at an early stage when we can treat it," he said.
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Bansal, who specializes in studying vaccines for cancer prevention, is currently running a clinical trial for a new cancer vaccine. The participants are all people with Lynch syndrome.
"We felt that we had to do something to change the natural history of cancer in this high-risk population," he told Fox News Digital.
In the trial, researchers are testing a combination of three vaccines that were initially created by a scientist at the National Cancer Institute.
"These vaccines attack those cells in the colorectal area that express abnormal proteins, and then it can train the immune cells to get rid of those cells in the colon — and perhaps in other organs such as the stomach, small bowel, pancreas and uterus — before they turn into cancer or polyps."
The first two safety phases of the trial have already been completed.
Next, the researchers will perform randomized controlled trials to gauge the effectiveness of the vaccines in keeping cancer at bay.
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If the trial is successful, Bansal said he envisions the vaccine extending to other types of cancers.
Bansal’s main advice to patients is to talk to their primary care doctors about their family history.
"In medical care, everybody's so busy that we don't discuss family history enough," he said. "Patients should ask their doctor about their family history of cancers and the possibility of genetic testing, which has become much cheaper than ever before."
Grossman agreed that it's important to be aware of the risks associated with the genetic condition.
"Knowing you have Lynch syndrome allows for more frequent colonoscopies and additional cancer screenings that will help save lives," he said.
"This is a great example of how our increased knowledge of genetics has improved our clinical care."
