The fat envelope with a return address from my doctor’s office arrived with a thunk in my mailbox late on a Saturday afternoon. I hadn’t exactly forgotten about spitting into a tube 3 weeks earlier and mailing it off to a genetic testing lab, but I had actively tried to banish it from my mind.
Surely, I thought, if the results were nefarious, if cancer-causing mutations were lurking in my genes, I would’ve gotten a phone call rather than merely forwarded test results.
I was wrong.
I opened the envelope to find a nine-page report. At the top, a 4-inch square in bright red with a large white plus sign greeted me. “GENETIC RESULT: POSITIVE, CLINICALLY SIGNIFICANT MUTATION IDENTIFIED,” it shouted in all caps. I ran my eyes down the page to the next section, identifying a gene only by an indecipherable three letters and a number.
Another area with red color blocking told me I was at a high risk of endometrial cancer (cancer of the uterus lining) and colorectal cancer.
More pages into the report, I discovered that my MSH6 gene mutation is one of five genes that can be mutated if you have a genetic condition called Lynch syndrome.
But wait a minute, I silently screamed. I’d had genetic testing done 15 years ago and was told I didn’t have Lynch syndrome — a condition that raises your risk of a plethora of cancers. At the time, it came as such a relief.
I had just endured surgery, chemo, and radiation for both endometrial and ovarian cancers.
Those cancers were discovered by accident when my OB-GYN’s hands came to a screeching halt on my abdomen during a routine exam. She told me she felt a mass the size of an orange, something I, a healthy woman in her mid-40s, had been completely oblivious to.
At the time, I referred to my diagnosis as a two-for-one deal from hell. But after I went into remission, and each passing year took me farther and farther away from my time in cancer land, I felt as if I had won some sort of oncological Russian roulette.
I met so many women with cancers like mine who did not survive.
So, what was this new genetic report talking about?
When it arrived one weekend, just a few months into the pandemic, I was left trying to figure out what was going on using just my Googling skills. After delving into several genetics websites, I discovered that several new gene mutations for Lynch syndome had been discovered since I was first tested.
Terrified I was a cancer magnet in a world upended by the pandemic, I hesitantly masked up and made my way to various doctor appointments to learn more.
In addition to colorectal cancer and endometrial cancer (at least I’d already survived that one), people with Lynch syndrome are also more likely to get stomach, bladder, ovarian (another one out of the way!), pancreatic, and prostate cancers, among others.
It’s a lot to wrap your head around.
I had a virtual visit with a genetic counselor and the gynecologist who ordered testing. She acknowledged that, no, I shouldn’t have received the report in the mail and been blindsided by its findings. She said her office had mistakenly forwarded it to me.
The five gene mutations that are part of Lynch each have their own set of statistics about how likely a patient is to be diagnosed with various cancers. (Most Lynch patients only have a mutation in one of these genes.)
For example, the lifetime risk of getting colon cancer, the hallmark of Lynch, ranges from 22–74%, compared with 4–5% of the general population. Many people are diagnosed at a much younger age than someone without Lynch.
Four of the five genes associated with Lynch are known as mismatch repair genes. They find and correct mistakes in the DNA replication process. One doctor explained it like this: Mutations in these genes can lead to proofreading errors in your DNA. Over time, these “typos” can add up and make it more likely someone with Lynch syndrome will be diagnosed with cancer.
“My thoughts keep returning to a question I saw in an online forum: Do you consider yourself lucky or unlucky?”
Lynch is one of the most common genetic mutations. About 1 in every 300 people have Lynch. But many don’t know they have it because they don’t know their family history or aren’t asked about it. Many doctors still aren’t familiar with Lynch. My doctor is, and that’s why she recommended the additional testing that led to my diagnosis.
Knowing this, I still found a confusing aspect of being diagnosed with Lynch was that there wasn’t a whole lot of cancer in my extended family — and no colon cancer.
Then I realized there was more cancer than I realized. My aunt’s grandson died of brain cancer, a Lynch-associated cancer, in his 20s. After my Lynch diagnosis, his mom died of ovarian cancer. And her sister had early-stage bladder cancer.
Soon, it was time to let the rest of the family know about my diagnosis so they could get tested. If a parent has Lynch, each child has a
I talked to my sister first. Thankfully, she was mutation-free, so my nephews are as well.
I was diagnosed with cancer when my daughter was only 7. But I don’t have to worry about passing the mutation to her because she is adopted. (Of course, what lies in her genes is a mystery without knowing anything about her birth parents or getting her own genetic testing.)
I dutifully emailed my remaining aunt, who was already in her 90s without any cancer, and my cousins. Surprisingly, no one seemed too concerned about what I felt was a bombshell. They are a highly educated bunch, but to my knowledge, none have decided to be tested.
I found that kind of aggravating.
If you know you have Lynch, vigilance and lots of screening are key to catching cancers at an early stage or even eliminating them before they start. That’s particularly true with colon cancer, where colonoscopies are recommended every
Women with Lynch who are done with childbearing are encouraged to have hysterectomies and their ovaries removed to ensure they don’t have to go through what I did with ovarian and endometrial cancers. Often endometrial cancer is caught early because it causes bleed (although I didn’t have that symptom). But ovarian cancer is another beast entirely.
My thoughts keep returning to a question I saw in an online forum: Do you consider yourself lucky or unlucky?
For years, I thought I was unlucky to be diagnosed with two cancers at a relatively young age. It was random and unpredictable. But I was also lucky, I told myself, because I made it out alive.
Now I know why I had cancer. But I’m still not sure if I’m lucky or not. I’m certainly not lucky to have the specter of cancer hanging over me, to go through test after test, shelling out money to meet the deductible on my health insurance. Even with insurance, some procedures are not covered.
But on the other hand, having a doctor recommend genetic testing years after I survived cancer is lucky.
I’m also lucky because now I know what I’m up against. For me, forewarned is forearmed in what can often seem like an unfair fight with my genetic destiny.
Barbara Ruben is a freelance writer and editor who covers health, older adults, emergency management and other topics. She served as managing editor of the Beacon Newspapers, a group of newspapers for older adults in the Washington, D.C. and Baltimore areas, where she won numerous awards for her writing about healthcare and other topics from the National Mature Media Awards and the North American Mature Publishers Association.