Our briefing highlights the lack of surveillance screening for younger people at higher risk of bowel cancer.
Genetic factors contribute up to 30% of bowel cancer cases, an estimated 8,000-12,000 cases each year.
Genetic factors mean a strong family history of bowel cancer, or genetic conditions such as familial adenomatous polyposis (FAP) or Lynch syndrome. People with long-term inflammatory bowel disease are also at higher risk.
People in higher risk groups are likely to develop bowel cancer much younger than the general population. Clinical guidance recommends that people in high-risk groups should be in a surveillance screening programme, which is proven to reduce deaths in these groups.
Recent evidence shows that:
- People diagnosed are not routinely tested for genetic conditions, and only a third of centres identify and manage high-risk patients through a registry.
- Even when they are in a surveillance programme, patients may have to wait a long time for their screening colonoscopy. Thirty-five hospitals offering a surveillance programme have a waiting time of over 26 weeks (6 months) for people at higher risk.
- More than half of centres do not have a programme for managing high-risk groups.
- 64% of clinicians believed that someone else should be carrying out the surveillance work.
Our briefing, “Never too young: Supporting people at higher risk of bowel cancer”, has five recommendations to improve services for people in high risk groups:
- Better surveillance screening for those at high risk of developing bowel cancer.
- Clear information should be made available for GPs and the public on who may be at higher risk of bowel cancer.
- As people with a genetic condition such as Lynch syndrome typically develop bowel cancer at a young age, anyone diagnosed with bowel cancer under the age of 50 should have a genetic test for these conditions, so they and their families can be included in a surveillance programme.
- Adequate endoscopy service capacity to ensure that people at high risk do not have a long wait for their colonoscopy.
- Designation of a single named lead person in each hospital trust with responsibility for a registry of people at higher risk.
Full details of our findings and recommendations are in our full report available here.
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.
- USA TODAY reporter Brian Mansfield and his family. Clockwise, from top: Brian Mansfield, Nick Mansfield, Annalise Mansfield, Gracelyn Mansfield, Zac Mansfield. Nancy Mansfield is in the center.
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
The study shows that regularly taking the medicine cuts the risk of bowel cancer by more than 60% in those with a particular genetic predisposition to get the disease – as well as reducing the risk of other hereditary cancers.
Scientists who led the study said people with several family members with cancers other than breast, blood and prostate might be advised to start taking aspirin daily from the age of 45.
They said those without a family history of the disease might also consider doing so, but that they should make a personal assessment of the risks and benefits and get medical advice. Anyone thinking of taking the drug regularly should consult their doctor first.
Doctors already prescribe low, daily doses of aspirin to people at increased risk of heart attacks and strokes, and evidence has been growing of anti-cancer properties for 20 years. However, this is the first long-term, randomised controlled trial to show such an effect.
The trial involved people with Lynch syndrome, a genetic abnormality that predisposes carriers to develop bowel cancer and other solid organ cancers including endometrial, ovarian, stomach, kidney, oesophageal, brain and skin tumours.
The condition affects at least one in 1,000 people. Carriers are around 10 times as likely to develop cancer and often do so at a young age.
Professor John Burn of Newcastle University, who led the study, estimated that if all 30,000 or so people with Lynch syndrome in the UK were to start taking two aspirin tablets a day then some 10,000 cancers would be prevented over the next 30 years, saving about a thousand lives. The downside of the treatment is that around an extra thousand people would develop stomach ulcers as a side-effect.
“People with a genetic susceptibility are a model system,” said Burn, whose work is published online in the Lancet on Friday. “They are more sensitive to the environmental triggers to cancer.
“If we can do something to change cancer progression in people at high genetic risk, then that’s telling us what we might all benefit. But we are not making a recommendation for the general population. Everyone can take this evidence and make their own choice.
“In between you have the people who have a family history [of cancer]. Those individuals may well decide to put themselves on aspirin and that would be a reasonable conclusion from the data currently available.”
Between 1999 and 2005, about half of a group of 861 Lynch syndrome carriers were given two aspirins (600mg) a day, while the rest took placebos.
By 2010 those who had taken aspirin for at least two years were 63% less likely to have developed bowel cancer.
Looking at all forms of the disease, almost 30% of those in the placebo group developed a Lynch syndrome-related cancer, compared with 15% for those given aspirin.
The most common side effects associated with taking aspirin are gastrointestinal ulcers and stomach bleeding. There is also an very small increased risk of haemorrhagic stroke, in which a blood vessel in the brain bursts.
There was no difference in the proportions of the study groups suffering such side-effects.
Burn added that he takes low-dose aspirin tablets as a preventative measure. “That was a balanced judgment based on weighing risks and benefits. I know I might get an ulcer or a cerebral bleed but I’d rather not have a heart attack, stroke or cancer. That’s my choice.”
Aspirin is a synthetic version of the active component of willow bark, salicylic acid, which has been used as a medicine for its anti-inflammatory properties for hundreds of years. Salicylates also trigger programmed cell death to help diseased plants contain the spread of infection.
“It’s not a huge stretch to think that if salicylate induces programmed cell death in plants to kill infected cells, maybe it’s doing similar things in the animal kingdom to enhance the death of aberrant cells causing cancer,” said Prof Burn.
“This adds to the growing body of evidence showing the importance of aspirin, and aspirin-like drugs, in the fight against cancer and emphasises how critical it is to carry out long-term international research,” said Prof Chris Paraskeva, a bowel cancer expert at the University of Bristol.
The CAPP team have launched a website to recruit 3,000 people with Lynch syndrome worldwide to take part in a five-year trial to determine the best dose of aspirin to take.
My Semicolon Life: Tracing my family’s cancer history – USATODAY.com.
USA Today (Photo credit: Wikipedia)
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.
Every time my older son gets an upset stomach, he gets a little spooked.
This summer, he didn’t seem worried. My surgery and recovery went well enough that he didn’t have to spend much time wondering if things might go badly. Besides, people brought food.
Now that he’s back at college and on his own, he’s thinking less about my short-term issues and more about his long-term ones.
Like, when’s he going to get cancer?
COLUMN: Last week’s installment
MORE: Follow Brian on Twitter
MORE: ‘Music that makes me want to live’ playlist
As the son of someone with Lynch syndrome — a hereditary genetic disorder that exponentially increases one’s susceptibility to cancer — it’s not an unreasonable question. He knows he’s got a 50/50 chance of carrying the same mutation I do, and he knows that my own digestive problems led to my colon cancer diagnosis. He wants to get screened for Lynch, and he’d rather do it sooner than later.
So this week I went to see someone who could help me get a handle on the genealogical aspect of the situation. An advanced practice nurse in genetics, she’d typically walk someone — my son, for instance — through his likelihood of having a genetic disorder, then take a DNA sample to have it tested. Since I already had tested positive for Lynch, she created a family tree showing our cancer history, then outlined the steps I should take to alert and protect both my immediate and extended family.
In order to rule out additional syndromes, she asked questions about sebaceous skin tumors, thyroid glands, fibroid tumors and my ancestry of origin. Lynch doesn’t appear to be a respecter of ethnicities, but other mutations are: For instance, the BRCA mutations, which can produce a hereditary breast-ovarian cancer syndrome, are common among Ashkenazi Jews. She also measured my head: A larger-than-normal measurement could signify Cowden syndrome, a much rarer hereditary disorder that often results in multiple benign tumors and an increased cancer risk.
As for the family history, cancer showed up occasionally on my mother’s side, like the great-aunt who died of breast cancer in the mid-1950s after having worked in the Oak Ridge, Tenn., nuclear program during World War II, but no patterns emerged. My father’s side of the family, however, told a different story.
On our own, my family had focused the search on the Carter/Geralds side of my father’s lineage. When we put the Mansfields on paper, though, there was plenty of evidence to suggest troubles of their own. My grandfather, a heavy smoker, had oat-cell lung cancer when he died at 62. He had two brothers — and maybe a third — who died from colon cancer. Also, I have a second cousin on that side diagnosed with colon cancer at age 50.
Still, it’s my paternal grandmother’s branch that most strongly suggests Lynch. When Granny was in her 50s, she had a hysterectomy. She didn’t talk about it then, and she can’t tell us much about it now. As we’ve pieced together family lore, we’ve come to believe her doctors were concerned about uterine or ovarian cancer (both Lynch-related), so they removed the organs most at risk. One sister also had a hysterectomy after being diagnosed with endometrial cancer; when a malignancy recurred in her kidneys, it spread throughout her body and took her life. A brother died of lung cancer in 2009. Ovarian took the youngest sister this spring.
In the next generation, colon cancer hit three first cousins, all when they were in their 40s. Now, there’s me.
Facebook helped me gather these stories. This weekend, it’ll help me spread a message that’ll read something like this:
As you know, I had surgery for colon cancer this summer. During the course of my treatment, I learned that I carry an hereditary genetic mutation called Lynch syndrome that greatly increases the likelihood of developing cancer in the colon, stomach, uterus, ovary and other places.
After looking through our family’s history with a cancer genetics professional, we’ve determined that the disorder came from my father’s side of the family. You probably already know how prevalent those cancers have been across our generations. Because of that, I’d like to suggest that you contact a cancer genetics professional in your community to help you assess your own risk of carrying the mutation.
While a Lynch diagnosis can be a scary thing, it also brings empowering knowledge. With proper screening, the most common Lynch-related cancers can be discovered early, even prevented.
The National Center for Biotechnology Information website has a section that you can use to find cancer genetic counseling near you. If you decide to get screened, I’ll be happy to send you a copy of my genetic test result and my pathology report. Soon, I should also have a pedigree that shows our family cancer history.
Since my surgery, I have recovered nicely. But few things would make me feel better than knowing I kept somebody else in our family from going through the same thing I did.
Meanwhile, I’m calling my father and my sons to help them make their own appointments. They’ve got tests to take.
Lynch Syndrome International – Click Here
The primary mission of Lynch Syndrome International (LSI) is to serve our global communities by focusing on providing support for individuals afflicted with Lynch syndrome, creating public awareness of the syndrome, educating members of the general public and health care professionals and providing support for Lynch syndrome research endeavors.
LSI, an all volunteer organization, is founded and governed by Lynch syndrome survivors, their families, and health care professionals who specialize in Lynch syndrome.
If diagnosed early, we believe Lynch syndrome survivors have favorable outcomes which enhance survival, the longevity and quality of life as well as the emotional well-being of the afflicted.
With the provisions of knowledge, caring and respect for those living with Lynch syndrome, coupled with a common theme of a prevalent positive attitude, we can be change agents, enhancing hope and survivability, impacting the life of countless thousands of people throughout our world.