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. However, the majority of people living with this inherited condition, known as Lynch syndrome, don’t know they have it. Dana-Farber Cancer Institute today announced the opening of the first Lynch Syndrome Center dedicated to providing genetic counseling and testing to those at risk for the syndrome and delivering a new model of coordinated care for those living with the disease.
A common and underdiagnosed genetic condition, Lynch syndrome increases the lifetime risk of colorectal cancer by up to 80 percent, endometrial cancer by up to 60 percent while significantly elevating the risk of ovarian, stomach, and other cancers. In the United States, an estimated 1 in 300 people carry one of the five Lynch syndrome mutations, but most carriers are either undiagnosed, or diagnosed after they have developed cancer.
“One of our big missions is to raise awareness,” said Sapna Syngal, MD, MPH, founder of the new Lynch Syndrome Center at Dana-Farber. “We don’t want people walking around with an increased risk of cancer and not know. We need to get them in the doors for genetic counseling and testing, and if they are found to have a mutation, we can provide the specialized, comprehensive care they need to help prevent cancer-- including new options as they arise.”
One of the first indications that someone make be at risk for Lynch syndrome is a personal or family history of colorectal or uterine cancer. An evaluation at Dana-Farber’s Lynch Syndrome Center would begin with a cancer risk assessment, in which patients meet with a genetic counselor and a doctor who specializes in inherited cancers. If genetic testing is recommended, a blood or saliva sample will be taken and sent to a lab for analysis of the Lynch syndrome genes as well as other cancer susceptibility genes.
For those diagnosed with Lynch syndrome, specialists at the Lynch Syndrome Center will act as quarterbacks, by creating personalized management plans for patients and ensuring careful monitoring and management of the disease. Lynch syndrome patients can be offered earlier and more frequent cancer screening and surveillance, as well as preventive surgery that can dramatically reduce their likelihood of developing cancer. Additionally, the Lynch Syndrome Center will be a resource for family members of those who are diagnosed with the disease.
“As we pull in pieces of an individual family’s own specific history, we use that information to guide future prevention or risk reduction for the cancer-free individuals in the family,” says Matt Yurgelun, MD, director of the Lynch Syndrome Center. “The Lynch Center will also enable us to learn more about how Lynch syndrome cancers biologically may be inherently different from other forms of cancer. Research is how we get better and smarter, and that will lead to better screening and prevention in the next generation.”
By offering clinical trials to Lynch syndrome patients, the center also hopes to learn more about the five Lynch syndrome genes and other potential genetic causes. Using research findings from hundreds of families, Dana-Farber physician-scientists are already working with colleagues nationwide on initiatives including specialized pancreatic and prostate cancer screenings for individuals with Lynch syndrome.
“Lynch syndrome is one of the few inherited conditions for which there are many effective cancer prevention strategies,” said Syngal. “We need to harness that knowledge and identify who is living with this and provide them with demonstrated prevention measures that can keep them from developing cancer.”