as colorectal cancer As cases continue to surge among young patients, doctors are warning of a little-known but widespread disease that significantly increases the risk.
Lynch syndrome is a genetic disorder that predisposes people to various diseases. type of cancer.
Fox News Digital spoke to two experts about what people need to know about this genetic disease.
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Dr. Matthew Grossman, an interventional endoscopist and gastroenterologist at Atlantic Health System in New Jersey, explained the link between Lynch syndrome and human DNA.
“Think of DNA as a ladder,” he said. “Typically, horizontal line errors, called mismatches, are corrected by a repair system. In Lynch syndrome, this system is flawed, increasing the risk of mismatches.”
Lynch syndrome is a genetic disorder that makes people more susceptible to various types of cancer. (St. Petersburg)
Because of the defect in mismatch repair, people with Lynch syndrome are much more likely to develop abnormalities and defects in their cells that can eventually lead to cancer, he said.
“Lynch syndrome is a type of germline mutation, meaning it is inherited genetically, as opposed to a somatic mutation, which can occur naturally in a small number of cells,” Grossman said. .
Doctors told the woman she was too young to undergo a colonoscopy. She was then diagnosed with stage 3 colon cancer.
Dr. Ajay Bansal, a gastroenterologist at the University of Kansas KU Medical Center, emphasized that Lynch syndrome is largely unknown, as 95% of patients with the syndrome do not know about it.
“They don’t realize that their risk is increased not only for colon cancer, but also for uterine cancer, ovarian cancer, stomach cancer, small intestine cancer, kidney cancer, bladder cancer, and possibly cancer. brain tumor“So it’s very underdiagnosed,” he told FOX News Digital.
In healthy DNA, horizontal line errors called mismatches are corrected by repair systems. Doctors explained that in Lynch syndrome, the repair system is defective, increasing the risk of mismatches. (St. Petersburg)
One reason the syndrome often goes unnoticed is because it is a “silent” condition, Bansal said. “It doesn’t cause any symptoms until it becomes cancerous.”
The two main cancers associated with this syndrome are colon and colorectal cancer and uterine cancer.
“Lynch syndrome can be caused by four or five different mutations,” Bansal said. “Mutations change the type of cancer risk.”
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For example, Bansal warned that people with mutations in a gene called MLH1 have an 80% risk of developing colorectal cancer at some point in their lives.
He estimated that approximately 25% of young-onset colorectal cancers are due to Lynch syndrome.
How is Lynch syndrome detected?
Lynch syndrome can be diagnosed with a blood or saliva test, Bansal said.
“If a patient has a family history of multiple colon cancers or multiple other cancers, or if a family member is under age 50 with colon cancer or uterine cancer, we: It is recommended. genetic testing “To confirm the syndrome,” he said.
Lynch syndrome can be diagnosed with a blood or saliva test. (St. Petersburg)
Doctors say patients in these categories typically undergo Lynch testing between the ages of 18 and 25.
Universal genetic testing is not usually performed.
“It has not been approved for the general public, primarily due to cost and insurance concerns,” Bansal noted.
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Grossman said that until genetic testing became available, clinicians relied on the “3, 2, 1 criteria” to diagnose Lynch syndrome.
“The criteria is that the patient has three or more relatives on the same side of the family with one of the affecting cancers, this has been present for two or more generations, and at least one is under 50 years of age. “If you have, you are likely to be diagnosed with Lynch syndrome and you should discuss the condition with your doctor,” he said.
What happens if I am diagnosed?
Because Lynch syndrome is caused by a genetic mutation, there is no treatment or “cure.”
Bansal said people who test positive should be closely monitored for cancer warning signs through regular tests, especially colonoscopies.
The doctor advised that patients should consult their GP about their family history. (St. Petersburg)
In the general population, people without Lynch syndrome, colonoscopy is recommended starting at age 45.
For patients with Lynch syndrome, especially those with more aggressive phenotypes and genotypes, Dr. Bansal recommended colonoscopies starting at age 25 and repeating every one to two years.
“The idea here is to monitor closely so that colon cancer can be prevented by removing polyps and catching colon cancer in its early stages when it can be treated,” he said.
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Bansal specializes in vaccine research. cancer preventionis currently conducting clinical trials for a new cancer vaccine. All participants were people with Lynch syndrome.
“We felt we had to do something to change the natural history of cancer in this high-risk population,” he told FOX News Digital.
In this trial, researchers are testing a combination of three vaccines originally created by scientists at the National Cancer Institute.
“If a patient has a family history of multiple colon cancers or multiple other cancers, or if someone in the family has colon cancer or uterine cancer before the age of 50, to confirm the syndrome. We recommend genetic testing for patients,” the doctor said. she said. (St. Petersburg)
“These vaccines attack cells in the colorectal area that express abnormal proteins, training immune cells to collect those cells from within the colon and possibly other organs such as the stomach, small intestine, pancreas, and uterus. It can be removed before it becomes cancer or polyp. ”
The first two safety stages of the trial have already been completed.
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Bansal said he envisions the vaccine being applied to other types of cancer if the trials are successful.
Bansal’s main advice to patients is to talk to them. primary care physician About their family history.
The two main cancers associated with this syndrome are colon and colorectal cancer and uterine cancer. (St. Petersburg)
“Everyone in the medical field is so busy that we don’t talk about family history enough,” he says. “Patients should ask their doctors about their family history of cancer and the possibility of genetic testing, which is now much cheaper than ever before.”
Grossman agreed that it’s important to be aware of the risks associated with genetic conditions.
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“Knowing that you have Lynch syndrome can save lives by getting more frequent colonoscopies and additional cancer tests,” he said.
“This is a great example of how increased knowledge of genetics has improved clinical care.”
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