A saliva test at 33 explained for Michelle York why cancer had struck so many of her mother’s relatives: Lynch syndrome, an inherited and underdiagnosed genetic mutation estimated to affect about 1 in 300 Americans, many of whom do not learn they carry it until after they are sick.
On her mother’s side, the list was long. Her great-grandmother died of colon cancer. Her grandfather had stomach and brain cancer, and his sisters died of liver, ovarian and breast cancer. Her mother’s cousin died of pancreatic cancer. Lynch syndrome raises the risk of colorectal, uterine, stomach, ovarian and pancreatic cancers; for colon cancer, it can push lifetime risk as high as 80 percent, and it is sometimes tied to more aggressive forms of the disease.
York’s mother, a nurse at the time, read about Lynch syndrome through her work and decided to get tested. “She thought: ‘Well, what if I do have this and what if my daughter has this?’” Ms. York, now a 43-year-old content creator in Los Angeles, told Business Insider.
Her mother tested positive. Then York, her sister and her brother took the saliva test, which their insurance covered because of their mother’s result. All three were positive, as were an aunt, an uncle and a cousin. “I spit in a tube — it was a very easy test,” Ms. York said. There are three ways to screen for Lynch: saliva, a cheek swab or blood, with blood giving the highest-quality DNA.
A genetic counselor walked the siblings through which cancers they were predisposed to and the ages at which they tend to appear. The news landed hard. Ms. York was 33, her sister was 31 and her brother was 22. “Does this mean I’m going to get cancer at a young age?” she recalled thinking. “Does this mean every time I don’t feel well, I’m going to immediately think I have cancer?”
None of them has had cancer. “But we’ve had lots of scares,” Ms. York said. Her mother has had precancerous polyps removed during several annual colonoscopies.
The whole family now gets colonoscopies every year, whatever their age. Ms. York first thought every other year would do; the common recommendation for people with a family history of colon cancer is screening every five years. Because colon cancer can develop quickly in people with Lynch, her doctor advised annual screenings. “Doing it every year kind of sucks,” she said, citing the fasting and laxatives the night before. “It’s really just the preparation for the colonoscopy.”
At the time of her diagnosis, Ms. York was also dealing with complex ovarian cysts, which can mask growing tumors. She began seeing a gynecologist-oncologist and having each cyst rechecked every three months. Complications eventually led her to have a hysterectomy and oophorectomy, removing her uterus and both ovaries and reducing her ovarian and uterine cancer risk to practically zero. Because of her specific Lynch variant, she also gets annual skin cancer screenings and mammograms; some newer studies link her mutation to a slightly elevated breast cancer risk. Average-risk women over 40 are generally advised to get a mammogram every two years.
The diagnosis changed her dealings with insurance, too. Without a family history of colon cancer or a Lynch result, a colonoscopy before age 45 can cost hundreds or even thousands of dollars out of pocket, she said. Before her hysterectomy, an insurer denied a CT scan as not “medically necessary”; it was approved after her doctor told the company she had Lynch. “The Lynch diagnosis absolutely does help, in that respect,” Ms. York said.
It also changed how doctors treated her symptoms. “I think people take you a little bit more seriously, people look a little closer,” she said. “If there is a pain or a lump, you are treated differently because of Lynch syndrome.” That matters, she believes, at a moment when some young colon cancer patients say doctors dismissed their symptoms; Lynch accounts for only about 2 to 5 percent of all colorectal cancer cases. Current guidance recommends that every newly diagnosed colon tumor be screened for DNA instability that could point to Lynch, with follow-up testing for patients whose results come back positive.
When Ms. York hears of another colon cancer case in someone young, she said, her first thought is: “I wonder if they’ve been tested for Lynch.” She sometimes shares her story on TikTok to raise awareness and plans to have her two children, 17 and 14, tested once each turns 18, when cancer surveillance can begin if they are positive.
“It’s scary when you first find out that you have a genetic mutation that predisposes you to cancer,” she said. “But at the end of the day, knowing that and taking those precautions could ultimately save your life.”