Health
Cancer risk rises with this little-known syndrome. Here’s how to know if you have the genetic condition
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.”
Lynch syndrome is a genetic disorder that makes someone more susceptible to many different kinds of cancer. (iStock)
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.
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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.”
In healthy DNA, errors in the rungs — called mismatches — are fixed by a repair system. In Lynch syndrome, the repair system is faulty, increasing the risk of mismatches, a doctor explained. (iStock)
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.
How is Lynch syndrome detected?
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.
Lynch syndrome can be diagnosed through either a blood test or saliva test. (iStock)
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.
What happens if you’re diagnosed?
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.
Patients should talk to their primary care doctors about their family history, a doctor advised. (iStock)
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.
“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,” a doctor said. (iStock)
“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.
The two main cancers tied to the syndrome are colon and colorectal cancer and cancer of the uterus. (iStock)
“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.”
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Fatigue can stem from a variety of illnesses and life stressors, but when that exhaustion lasts for months — often following an infection — it may indicate a condition called chronic fatigue syndrome.
Approximately 3.3 million people in the United States currently have the syndrome, with about one in four people confined to their bed at some point during the illness, according to the Centers for Disease Control and Prevention.
Despite its prevalence, experts say it’s a poorly understood condition that physicians frequently miss, with past research suggesting that only about 15% of those affected are diagnosed correctly.
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What is chronic fatigue syndrome?
Formally known as myalgic encephalomyelitis (ME), chronic fatigue syndrome (CFS) is a chronic disease that causes fatigue so severe that it impairs the ability to perform daily activities.
Approximately 3.3 million people in the United States currently have the chronic fatigue syndrome, with about one in four people confined to their bed at some point during the illness. (iStock)
The National Academy of Medicine defines the syndrome as having the following three symptoms that last at least six months.
- Severe fatigue that is 1) new and 2) decreases the ability to perform activities that you did normally prior to illness
- “Malaise” that worsens after physical or mental effort that previously was well-tolerated
- Unrestful sleep
People may also experience trouble with thinking and memory (often called “brain fog”) or lightheadedness when standing up.
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There are no tests to confirm chronic fatigue, so doctors diagnose it by talking to their patients, examining them and excluding other disorders, like hypothyroidism and depression, that often share the same symptoms.
Chronic fatigue is frequently missed by physicians, with past research suggesting that only about 15% of those affected are diagnosed correctly. (iStock)
“CFS, fibromyalgia and long COVID are all related conditions with different names,” Dr. Jacob Teitelbaum, author of “From Fatigued to Fantastic” — whose research focuses on chronic fatigue syndrome — told Fox News Digital. “What these illnesses have in common is that they are immune disorders, and immune disorders predominantly affect women.”
Many genes related to immune disorders are on the X chromosome, suggesting a genetic component, the doctor added.
Causes of chronic fatigue
Chronic fatigue syndrome may be triggered by infection or other physiologic stressors, but its causes and symptoms can vary widely from person to person, according to Dr. Julia Oh, a professor in dermatology, molecular genetics and microbiology, and integrative immunobiology at the Duke University School of Medicine in North Carolina.
Teitelbaum compared the condition to a “severe energy crisis” in the body. When energy drops low enough, the “control center” in the brain — the hypothalamus, which regulates sleep, hormones, blood pressure and pulse — may not work as well.
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Although hypothalamic dysfunction can trigger dozens of other symptoms, the hallmark signs are insomnia (despite exhaustion), brain fog and widespread pain, the doctor said.
Anything that causes severe energy depletion can trigger the syndrome, including chronic life stressors, nutritional deficiencies, thyroid and stress hormone imbalances, and sleep problems.
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These triggers are usually associated with a gradual onset of CFS, but sudden onset can be caused by certain infections, with two classic ones being COVID and mononucleosis, past research has shown.
Head and neck trauma and sudden hormonal shifts after pregnancy can also trigger chronic fatigue, Teitelbaum warned.
Anything that causes severe energy depletion can trigger the syndrome, including chronic life stressors, nutritional deficiencies, thyroid and stress hormone imbalances, and sleep problems, according to one doctor. (iStock)
There aren’t currently any blood tests to uniformly diagnose the syndrome, but Dr. Oh said she is hopeful that will change in the future.
Her research team developed an experimental artificial intelligence-based tool, BioMapAI, that has been shown to identify the condition with high accuracy by analyzing stool, blood and other common lab tests, according to early research published in July in the journal Nature Medicine.
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“Instead of finding one smoking gun for the disease, our AI model uncovered a distinct biological fingerprint that was dysregulated in the patients, which spanned changes in gut bacteria, hyperactive immune cells and disrupted metabolism,” Oh told Fox News Digital.
Treatments and therapies
Given how differently chronic fatigue syndrome can affect people, there is no universally effective therapy, according to Oh.
The CDC recommends that patients with CFS work with their doctors to create a management plan based on the symptoms that most affect quality of life.
There are no tests to confirm chronic fatigue, so doctors diagnose it by evaluating symptoms and excluding other disorders.
Treatments generally include a combination of lifestyle changes, therapies and medications. Patients and their physicians should weigh the potential benefits and risks of any approach.
There are some alternative therapies that have shown to be effective for some. Teitelbaum developed a protocol called SHINE, which focuses on sleep, hormones and hypotension, infections, nutrition and exercise. Some research has shown that this approach can help to improve the quality of life for people with CFS and fibromyalgia.
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Others may find alternative treatments, like physiotherapy (physical therapy) to be helpful.
Those who experience persistent fatigue that hinders their ability to participate in regular activities or impacts their quality of life should speak with a doctor.
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Long before the Black Death killed millions across Europe in the Middle Ages, an earlier, more elusive version of the plague spread across much of Eurasia.
For years, scientists were unsure how the ancient disease managed to spread so widely during the Bronze Age, which lasted from roughly 3300 to 1200 B.C., and stick around for nearly 2,000 years, especially since it wasn’t spread by fleas like later plagues. Now, researchers say a surprising clue may help explain it, a domesticated sheep that lived more than 4,000 years ago.
Researchers found DNA from the plague bacterium Yersinia pestis in the tooth of a Bronze Age sheep discovered in what is now southern Russia, according to a study recently published in the journal Cell. It is the first known evidence that the ancient plague infected animals, not just people, and offers a missing clue about how the disease spread.
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“It was alarm bells for my team,” study co-author Taylor Hermes, a University of Arkansas archaeologist who studies ancient livestock and disease spread, said in a statement. “This was the first time we had recovered the genome from Yersinia pestis in a non-human sample.”
A domesticated sheep, likely similar to this one, lived alongside humans during the Bronze Age. (iStock)
And it was a lucky discovery, according to the researchers.
“When we test livestock DNA in ancient samples, we get a complex genetic soup of contamination,” Hermes said. “This is a large barrier … but it also gives us an opportunity to look for pathogens that infected herds and their handlers.”
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The highly technical and time-consuming work requires researchers to separate tiny, damaged fragments of ancient DNA from contamination left by soil, microbes and even modern humans. The DNA they recover from ancient animals is often broken into tiny pieces sometimes just 50 “letters” long, compared to a full human DNA strand, which contains more than 3 billion of those letters.
Animal remains are especially tough to study because they are often poorly preserved compared to human remains that were carefully buried, the researchers noted.
The finding sheds light on how the plague likely spread through close contact between people, livestock and wild animals as Bronze Age societies began keeping larger herds and traveling farther with horses. The Bronze Age saw more widespread use of bronze tools, large-scale animal herding and increased travel, conditions that may have made it easier for diseases to move between animals and humans.
When the plague returned in the Middle Ages during the 1300s, known as the Black Death, it killed an estimated one-third of Europe’s population.
The discovery was made at Arkaim, a fortified Bronze Age settlement in the Southern Ural Mountains of present-day Russia near the Kazakhstan border. (iStock)
“It had to be more than people moving,” Hermes said. “Our plague sheep gave us a breakthrough. We now see it as a dynamic between people, livestock and some still unidentified ‘natural reservoir’ for it.”
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Researchers believe sheep likely picked up the bacteria from another animal, like rodents or migratory birds, that carried it without getting sick and then passed it to humans. They say the findings highlight how many deadly diseases begin in animals and jump to humans, a risk that continues today as people move into new environments and interact more closely with wildlife and livestock.
“It’s important to have a greater respect for the forces of nature,” Hermes said.
The study is based on a single ancient sheep genome, which limits how much scientists can conclude, they noted, and more samples are needed to fully understand the spread.
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The researchers plan to study more ancient human and animal remains from the region to determine how widespread the plague was and which species may have played a role in spreading it.
Researchers (not pictured) found plague-causing Yersinia pestis DNA in the remains of a Bronze Age sheep. (iStock)
They also hope to identify the wild animal that originally carried the bacteria and better understand how human movement and livestock herding helped the disease travel across vast distances, insights that could help them better anticipate how animal-borne diseases continue to emerge.
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The research was led by scientists at the Max Planck Institute for Infection Biology, with senior authors Felix M. Key of the Max Planck Institute for Infection Biology and Christina Warinner of Harvard University and the Max Planck Institute for Geoanthropology.
The research was supported by the Max Planck Society, which has also funded follow-up work in the region.
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