Lynch Syndrome, a genetic condition affecting around 1 million Americans annually, increases a person’s risk of developing colorectal cancer (CRC) to 20% - 80%. As a result, Lynch Syndrome patients must complete yearly preventive screenings. However, developing a Lynch Syndrome vaccine could change the narrative for patients, reducing screenings and – more importantly – lowering risks for Lynch Syndrome-related cancers.
What Is Lynch Syndrome?
To understand Lynch Syndrome, we must first understand DNA, genes, and mutations. DNA are molecules found in all living beings' cells – they are life's building blocks.
DNA combines to form genes, which contain information that determines a person’s characteristics – everything from our hair and eye color to how we may smile and laugh. They also carry instructions for the function and development of our body, helping us grow and stay healthy.
However, changes can sometimes occur in genes, known as genetic mutations. Mutations happen when genes copy themselves. Sometimes the copy isn’t perfect, resulting in various disorders, dysfunction, or disease.
Lynch Syndrome is one of the most common hereditary cancer syndromes. About one in 300 people have a mutation in the MLH1, MSH2, MSH6, PMS2, or EPCAM gene that results in Lynch Syndrome. While this condition is most often inherited, it can also occur spontaneously.
Symptoms of Lynch Syndrome may vary, as they take on the traits of the associated cancer. Lynch Syndrome is diagnosed through a combination of family history and genetic testing. There is currently no cure available for this disease.
Lynch Syndrome increases a person's risk for certain types of cancers, most especially colorectal, uterine, and ovarian cancers. Therefore, close monitoring is required to ensure early detection and treatment of potential cancers.
Preventative screening recommendations – such as yearly colonoscopies and pelvic exams – vary depending on the gene mutation involved. Medical professionals work with Lynch Syndrome patients to help them determine their unique risks and advise screenings accordingly.
Lynch Syndrome and CRC
Lynch Syndrome accounts for about 3% of all CRC diagnoses. Mutations in the MLH1 and MSH2 genes lead to the highest risk of colorectal cancer, with a combined lifetime risk of up to 43%.
An estimated 153,020 people will be diagnosed with colorectal cancer in 2023, and about 4,500 of those people will have Lynch Syndrome. Because colorectal cancer is the second leading cause of cancer-related deaths, it is imperative to understand how Lynch Syndrome poses an increased risk of CRC.
A Lynch Syndrome Vaccine Underway
The development of a new Lynch Syndrome vaccine could be a life-saving future treatment option for Lynch Syndrome patients. A vaccine could lessen the burden of healthcare screenings and reduce the risk for associated cancers overall.
A clinical trial, led by Michael Overman, M.D., is currently underway at multiple locations to study the effectiveness of a vaccine that is being used as a therapeutic. However, Eduardo Vilar-Sanchez, M.D, Ph.D. – who spoke at the 2022 American Association of Cancer Researchers Annual Meeting – is working on taking this a step further.
“We want to immunize patients who are cancer-free … so that the immune system will be prepared if a patient develops a tumor to reject it,” Dr. Vilar-Sanchez said. “Since the vaccine is already being used as a therapeutic, it has allowed us to move forward in development quickly. Now we’re applying it to prevention … if the results show it works, patients will be able to space out their surveillance more and more.”
Lynch Syndrome Patients Speak Up
While we don’t know when this vaccine might become available, we do know it could have huge impacts on the lives of people living with Lynch Syndrome. Lucy Cantley, a stage IV colon cancer patient with Lynch Syndrome, shares her hopeful reaction to the news.
“I wouldn't be a stage IV cancer patient today if I didn't also have Lynch Syndrome, so naturally, the idea of a vaccine sounds incredible,” she said. “Had it been available prior to my cancer diagnosis, I could have potentially saved myself so much suffering – both physical and mental. I have two children, and right now, we do not know their Lynch Syndrome status. I worry immensely that cancer will impact their lives as young adults. To be able to have a Lynch Syndrome vaccine that would reduce their risk would give me such peace of mind.”
Lucy isn’t the only person feeling the impact that this new potential development could have on her children’s lives. Anthony Robustelli, a stage III rectal cancer survivor with Lynch Syndrome, expresses optimism as well.
“I have a five-year-old daughter in which the odds are 50% that she has it,” he said. “So, I think the best thing about this vaccine is that it can help save her from all Lynch-related cancers going forward. If this vaccine were to be approved, I would definitely have my daughter get vaccinated for it.”
What To Do While We Wait for a Vaccine
While the possibility of a Lynch Syndrome vaccine certainly brings a lot of hope and anticipation, it’s important to continue other preventative measures in the meantime. It is recommended that Lynch Syndrome patients:
- Receive regular cancer screenings as advised by their healthcare providers.
- Discuss the option of prophylactic surgery to remove at-risk organs.
- Comply with medication management – such as Aspirin and Naproxen – that may be prescribed to help reduce the risk of developing certain cancers.
- Maintain a healthy lifestyle through diet and exercise, while avoiding smoking, excess alcohol, and other known carcinogens.
Regardless of whether or not you are diagnosed with Lynch Syndrome, it is important that everyone be aware of:
- Their family history of cancer.
- Signs and symptoms of Lynch Syndrome.
“The advances in vaccine technologies, such as Lynch Syndrome, is a promising field of research that has the potential to reduce the risk of developing cancer, thereby preventing disease and modifying surveillance regimens for high-risk patients,” said David Fenstermacher, Senior Director of Research & Medical Affairs at the Colorectal Cancer Alliance. “We are monitoring the research developments of cancer vaccines and other breakthroughs that impact our patient community.”
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