More than a million people in the United States are carrying a genetic mutation that greatly increases their risk for developing a variety of cancers, especially colorectal cancer. However, most people living with this inherited condition, known as Lynch Syndrome, are unaware of it, or are diagnosed only after they have developed cancer. In recognition of Lynch Syndrome Awareness Day on March 22nd, Dana-Farber is encouraging people to learn about Lynch Syndrome and see if they are at risk for this common but underdiagnosed genetic condition.
In the United States, an estimated 1 in 300 people carry a known Lynch Syndrome genetic mutation which greatly increase the lifetime risk of several different types of cancer. Individuals with Lynch syndrome may have up to an 80% lifetime risk of colorectal cancer and up to a 60% lifetime risk of uterine/endometrial cancer, in the absence of targeted risk-reducing interventions. People with Lynch syndrome are also at significantly elevated risks of various other cancers. However, if Lynch Syndrome carriers are identified early through genetic testing, there are several cancer surveillance and prevention measures that can help to prevent cancer from arising in the first place or aid in detecting cancer at its earliest and most treatable stages.
“Lynch Syndrome is one of the relatively few situations where we can actually tell someone what, specifically, gave rise to their cancer,” said Matthew Yurgelun, MD and the director of the Lynch Syndrome Center at Dana-Farber. “The good news is we have many effective cancer prevention strategies if we can diagnose those who may be living with this condition and offer genetic testing to their family members. But in order for these prevention strategies to be effective, people need to be aware of Lynch and understand their risk.”
The underdiagnosed nature of Lynch Syndrome was part of what prompted Dana-Farber to launch the nation’s first Lynch Syndrome Center in 2019. The Center’s mission is to provide personalized and comprehensive care for families with Lynch syndrome, supported by world-class research and state-of-the-art diagnostics.
One of the first indications that someone may be at risk for Lynch syndrome is a personal or family history of colorectal or uterine cancer. Other cancers that can be seen in individuals with Lynch syndrome include cancers of the ovary, stomach, bladder, ureter, small intestine, pancreas, bile duct, or brain, as well as specific types of skin tumors called sebaceous adenomas or sebaceous carcinomas. Families with Lynch syndrome usually have several members who have developed cancer, sometimes at unusually young ages.
Specialists at Dana Farber’s Lynch Center provide genetic testing for individuals who may be at risk for Lynch syndrome. If a patient is diagnosed with Lynch Syndrome, they will often be offered earlier and more frequent cancer screening and surveillance, preventive surgery that can dramatically reduce their likelihood of developing cancer, as well as options for cancer risk reduction with medications (“chemoprevention”).
Personalized management plans are then created for Lynch patients and their family members to ensure careful monitoring and management of the disease. Specialists at the Center work as “care quarterbacks” for Lynch patients as they undergo frequent tests, screenings, and provider visits to ensure their coordinated and effective care. Clinical trials are also offered to Lynch syndrome patients at the Center in order to learn more about the five Lynch syndrome genes and other potential genetic causes of the disease. To date more than 1,500 patients have been treated or tested at the Lynch Syndrome Center at Dana-Farber from across the country.
Later this year, the Lynch Syndrome Center will launch a new Registry and Biobank to collect data and tissue specimens from individuals with Lynch syndrome as they undergo routine preventive care through the Center. This unique and powerful resource will help leverage new discoveries to help improve the care and prevention of Lynch syndrome-related cancers.
The Lynch Center will also be hosting its annual LYNKED IN Patient Conference in September. This free event brings together Lynch syndrome cancer survivors, Lynch syndrome previvors (patients who have not had cancer but tested positive for the mutation), relatives, caregivers, and friends. It is hosted by staff from Dana-Farber physicians, genetic counselors, and researchers. In 2020 a record 750 patients and family members from 39 states, and 14 countries participated in the LYNKED IN Conference.