When USA TODAY’s Nashville music critic Brian Mansfield was diagnosed with colon cancer at age 48, he figured that a lifetime of Southern-fried foods, extra-large sodas and stress eating on deadline had brought it on. Turned out he had a genetic syndrome that gave him an 80% chance of developing colon cancer. He’ll chronicle his life with the disease — and with only a small part of his colon — in a series of weekly installments.
When I received my colon-cancer diagnosis in June, my surgeon wanted to test me for Lynch syndrome. A genetic disorder that’s the most common cause of inherited colorectal cancer, Lynch syndrome accounts for about 4,200 new cases of colorectal cancer each year, or between 2% and 5% of all cases. The patients who carry it, however, often look an awful lot like me, people in their mid- to late 40s.
Determining whether or not I had Lynch would affect the course of my treatment. If I didn’t have it, my surgeon would remove the tumor and several inches of colon to either side. If I tested positive, on the other hand, the likelihood of new tumors was so high that he would want to take out more. On the theory that the less colon I had, the less place there’d be for a tumor to recur, he would remove all but the last couple feet of my colon and rectum, just enough to keep me from needing a colostomy bag. Because of Lynch’s hereditary nature, a positive result also would have a big impact on my family.
It wasn’t a cheap test, my doctor said, about $4,000, and my insurance might or might not cover the cost (it did). Since nobody in my immediate family had ever had colon cancer, I figured the test would come back negative. Still, better to err on the side of caution now than have to undergo a second surgery because I wanted to do some cost-cutting.
Three months ago, I’d never heard of Lynch syndrome. But that didn’t stop me from having it.
Now I know more about it than I wish I did. The syndrome — named after Henry Lynch, a geneticist who has done groundbreaking research on hereditary cancer at Nebraska’s Creighton University — put me at an elevated risk for developing colon cancer. It’s also called HNPCC, or hereditary nonpolyposis colorectal cancer, but, to quote Leslie Nielsen in Airplane!, “that’s not important right now.”
What is important is that as many as 800,000 people in the USA may have this disorder. According to the national Centers for Disease Control and Prevention, as many as 98% of them may be undiagnosed, as unaware of their condition as I was.
Lynch syndrome is a defect in one of the mismatch repair genes, which correct errors during DNA replication. It’s like using a broken photocopier with no quality control, endlessly churning out flawed copies. Stack those flawed copies high enough, and they turn into a tumor like the one removed from my abdomen last month.
That tumor’s gone, but my copier’s still broken. There’s a 50/50 chance a new tumor will crop up some time in the next 15 years, if not in my colon, then maybe in my stomach. Or my small intestine, my urinary tract, or even my brain.
In general, Lynch syndrome carriers have an 80% chance of getting colorectal cancer during their lifetime. For women, that percentage is slightly lower, but their chances of getting endometrial cancer run as high as 60%. My particular variety of Lynch (there are several) comes with a slightly lower risk of colorectal cancers (fat lot of good it did me) but a much higher risk of gynecological cancers for women.
Though Lynch plays a part in only a small percentage of colon cancers, it’s more likely in cases where the patient is under 50. When there’s no immediate family history — as was the case with me — the likelihood of Lynch rises to 7%, according to my surgeon. Factor in a family member with colon cancer, and the chance that Lynch is involved goes up to about 30%.
Linda Bruzzone, founder of Lynch Syndrome International, was diagnosed with Stage 3 colon cancer in 2007 at age 55. Her brother, sister, father and an aunt all had Lynch-related cancers. She founded LSI in 2009 when “we couldn’t find anybody alive with the Lynch syndrome gene,” she says.
That all changed when the organization went online. “Things went absolutely berserk,” Bruzzone says. Now, in addition to the website, LSI maintains a Facebook page, and Bruzzone describes the culture of Lynch-cancer survivors and previvors that gathers there as a hopeful one.
My family already has benefited from our new knowledge. My father, who almost certainly passed this trait to me, had never had a colonoscopy, even though he’s 74. Since my diagnosis, he and my younger sister have both had their first colonscopies, and both had polyps removed. Left alone, those polyps could have turned cancerous within a couple years. (Polyps in people with Lynch tend to turn into cancer on a faster basis, my surgeon says.)
What signs might indicate Lynch syndrome in your family? Check your family medical history for three relatives with colorectal or gynecological cancers, especially if any of them were younger than 50 when they were diagnosed. The cases should span successive generations and also include at least one first-generation relative (a parent, sibling or child).
That last detail was the one that tripped me up. My paternal grandmother’s extended family had cancer all through it, but she’d had a hysterectomy in her 50s, thereby removing her most at-risk organs. My father was an only child. Since he and my sister had never had colonscopies, even if they had had cancer, none of us would have known.
At some point, my wife and I will get tests on our four kids, the oldest of whom turns 21 next month. Each has a 50/50 chance of carrying the gene. The ones that do probably will have colonoscopies every couple of years starting in their early 20s. Endoscopies, to check for cancer in the upper gastrointestinal tract, will start around 30. The girls also will be screened regularly for gynecological cancers, most likely using a combination of ultrasounds and biopsies. Barring a major medical advance, their doctors may recommend preemptive hysterectomies when they reach their 30s.
There’s a pretty good chance I’ll be around to watch them go through all that, and listen as they blame me for it. My heart will ache for them every time, but I’ll happily take the grousing about colonoscopy prep, or even a life-altering surgery, to keep them from having to hear the words “We found cancer.” I may have bought my father a few extra years; maybe my situation can buy my kids a whole lot more.
It’s like Bruzzone told me: “The difference in our generation and the previous one is that we’re surviving.”
Music that makes me want to live
Cancer has changed the way I hear music, more than any other life event except my marriage. Songs I once appreciated only on a surface level now strike deep at the core of my soul. Some inspire me; some terrify me. Others that I might have liked before, I’ve got no use for now. I’ve also got more time to listen, whether it’s during my morning exercise time or while lying in a hospital bed. These songs form part of the soundtrack to my cancer story.
1. Stories to Tell, Dave Barnes
2. Lifetime, Emeli Sandé
3. Don’t Let Me Fall, The Bluefields
4. If You Ever Get Lonely, Love and Theft
5. From There to Back Again/Pacific Coast Highway/Summer’s Gone, The Beach Boys
- My Semicolon Life: Welcome to the cancer club by Brian Mansfield (familyhistorybowelcancer.wordpress.com)
- My Semicolon Life: Tracing my family’s cancer history – by Brian Mansfield (familyhistorybowelcancer.wordpress.com)
- Variants of Unknown Significance (VUS): A new trial for Lynch Syndrome patients (familyhistorybowelcancer.wordpress.com)
- Life-Saving DNA Test Overlooked in Rise of Colon Cancer – Bloomberg (bloomberg.com)
- Lynch Syndrome (familyhistorybowelcancer.wordpress.com)