This article provides a historical overview of the online database (www.insight-group.org/mutations) maintained by the International Society for Gastrointestinal Hereditary Tumours (InSiGHT). The focus is on the mismatch repair genes which are mutated in Lynch Syndrome. APC, MUTYH and other genes are also an important part of the database, but are not covered here. Over time, as the understanding of the genetics of Lynch Syndrome increased, databases were created to centralise and share the variants which were being detected in ever greater numbers. These databases were eventually merged into the InSiGHT database, a comprehensive repository of gene variant and disease phenotype information, serving as a starting point for important endeavours including variant interpretation, research, diagnostics and enhanced global collection. Pivotal to its success has been the collaborative spirit in which it has been developed, its association with the Human Variome Project, the appointment of a full time curator and its governance stemming from the well established organizational structure of InSiGHT.
The InSiGHT colorectal cancer hereditary mutation database can be found here
Making Universal Screening for a Reality: The Lynch Syndrome Screening Network
March 22nd, 2012 11:35 am ET – From CDC
Deb Duquette, MS, CGC, Sarah Mange, MPH- Michigan Department of Community Health, Cecelia Bellcross, PhD, MS- Emory University, Heather Hampel, MS, CGC- The Ohio State University, Kory Jasperson, MS, CGC- Huntsman Cancer Institute
Authors are all from the Lynch Syndrome Screening Network (LSSN) Founding Board of Directors
flow chart individualEvery day, about 400 people in the United States are diagnosed with colorectal cancerExternal Web Site Icon. Approximately twelve of them have Lynch syndrome, a hereditary condition that increases the risk of colorectal cancer and other cancers. Identifying people with Lynch syndrome could have substantial health benefits for them, their families, and communitiesExternal Web Site Icon.
Lynch syndrome is the most common hereditary cause of colorectal and endometrial cancer; it also leads to increased risks of ovarian, pancreatic, and several other cancers, which often occur at a younger than average age. Lynch syndrome occurs among men and women in all ethnic groups in the United States. A diagnosis of Lynch syndrome offers an opportunity to 1) enhance cancer prevention and screening measures for patients and families, 2) prevent cancer or detect it earlier, and 3) save lives and is cost-effectiveExternal Web Site Icon.
In 2009, the Evaluation of Genomic Applications in Practice and Prevention Working Group published an evidence-based recommendationExternal Web Site Icon that every person newly diagnosed colorectal cancer should be offered screening for Lynch syndrome to identify opportunities to reduce morbidity and mortality in their relatives.
Lynch syndrome screening is performed by analyzing tissue from the person with colorectal cancer for specific pathologic features. If the results suggest the possibility of Lynch syndrome, the affected person is offered genetic counseling and additional testing. Offering screening to all newly diagnosed colorectal cancer patients—regardless of age, ethnicity or family history—is termed “universal screening.” This approach supports an objective of Healthy People 2020, which is to:
‘Increase the number of newly diagnosed colorectal cancer patients who are screened for Lynch syndromeExternal Web Site Icon’
In September 2011, a group of 37 dedicated people from leading cancer institutions created the Lynch Syndrome Screening Network (LSSN)External Web Site Icon, with the goal of reducing the cancer burden associated with Lynch syndrome. LSSN has already received more than 80 institutional applications for membership. More than half of the applicant institutions have already implemented universal Lynch syndrome screening and the others are either interested or in the process. The LSSN will facilitate implementation of universal Lynch syndrome screening by promoting sharing of resources, protocols, and data. LSSN Founding members have already gathered existing educational resources and created a new database to monitor progress toward achieving the Healthy People 2020 objective for Lynch syndrome.
Each first-degree relative (parent, sibling, or child) of a person with Lynch syndrome has a 50% risk of carrying the gene mutation and should be offered genetic counseling and testing. Relatives of a person with Lynch syndrome who are not found to have the gene mutation for Lynch syndrome will typically have the same risk for colorectal cancer as the general population, and their children will not be at risk for Lynch syndrome. Family members who are found to have the gene mutation for Lynch syndrome can be offered earlier and more frequent screening for colorectal and other cancers. Because these people can pass the gene mutation on to their children, the children should also be offered testing after reaching adulthood.
Genetic testing in family members of persons with a Lynch syndrome gene mutation is called “cascade testing.” Cascade testing will allow the Healthy People 2020 objective to achieve population health impact by preventing additional cancers in family members.
March is National Colorectal Cancer Awareness month. This month, increasing awareness of Lynch syndrome is especially timely, as the importance of collecting and sharing information regarding family history of colorectal cancer is being promoted throughout the United States (Colon Cancer AllianceExternal Web Site Icon ; Family PLZExternal Web Site Icon). People with an immediate family member diagnosed with colorectal cancer should share this information with their health care providers, so that screening for Lynch syndrome can be considered.
Lynch Syndrome International is promoting March 22, 2012, as LYNCH SYNDROME PUBLIC AWARENESS DAY. To learn more, please visit Lynch Syndrome International Home pageExternal Web Site Icon ( or the Lynch Syndrome Hereditary Cancers Public Awareness pageExternal Web Site Icon or LSI on FacebookExternal Web Site Icon)
March 22nd is Lynch Syndrome Hereditary Cancer Day. We urge every institution to acknowledge this day with some activity involving public education, public awareness or medical provider training. Together, we can make a difference.
What would you do to reduce the chance of dying of cancer? How far would you go if you had a 70 to 90 percent chance of contracting bowel cancer — and your uncle, mother, father, and two of your brothers had died from it?
Lynne Fisher decided she would do almost anything.
So, even though she showed no signs of cancer at all, Fisher, 51, a former mental health worker, agreed to undergo what might sound like a radical surgery: doctors removed nearly her whole colon and rerouted her small intestine to perform the functions of her large intestine.
The side effects were horrific, she said. For a year, Fisher struggled to control her bowel movements. She fought depression, and she hated her large scars and the 28 staples that had been left in her body. Her Multiple Sclerosis returned. The woman she shared a hospital room with — who’d had a similar surgery — did not survive.
“When you’re in it, it’s like a dark tunnel,” she told ABC News in a long phone conversation about her medical history.
But then, one day, she realized the surgery had helped saved her life. And since then, she’s never looked back.
“What’s a year out of your life compared to dying?” the 51-year-old said from her home in central England. “I get to watch my dogs grow up, my children grow up, my grandchild, I get to see my cherry blossoms in the tree, I get to see the sun shining in the morning, I get to go on holiday — I get to see life.”
Genes that cause breast cancer have been discussed widely for years. But less well known is Lynch syndrome, the gene mutation that Fisher and her much of her family inherited.
Roughly one in 370 people has Lynch syndrome, according to Lynch Syndrome International, an organization dedicated to helping people with Lynch syndrome and those who treat them. It’s unclear how many Americans choose to have the surgery that Fisher had: prophylactic subtotal colectomy, which doctors describe as a major surgery that, while elective, can often save lives.
“A person will select the option of sub-total colectomy because the entire colon is at very high risk for cancer,” said Dr. Henry Lynch, who discovered Lynch syndrome in the 1960s and is now the chairman of Preventive Medicine and Public Health at Creighton University and the director of Creighton’s Hereditary Cancer Center. “Lynch syndrome goes from one generation to the next. And it has an early age of onset in colon cancer.”
Fisher’s battle with bowel cancer began more than 20 years ago. She said she has suffered unbelievable tragedy and found inspiration from some likely and unlikely places: her sons, a stray dog, and Sharon Osbourne.
‘I Was Very Numb. I Couldn’t Think’
Fisher’s battle with bowel cancer began when she was in her early 30s. Long before she knew about her own susceptibility, her uncle got sick. He died in 1982.
Shortly after, her father got sick. She held his hand as he died from bowel cancer, almost exactly one year after his brother died.
Then, 10 years later, Fisher’s brother Mickey was diagnosed with bowel cancer at 28. He was dead at 30, leaving behind two children and a pregnant wife.
“After Mickey died, I had a bit of a nervous breakdown,” she admits.
Even though bowel cancer had taken three of her closest blood relatives, doctors “still didn’t make a connection.” Back then, few believed that bowel cancer was genetic.
One person who did was Dr. Lynch. Today, he is widely regarded as one of the fathers of cancer genetics. But when he discovered hereditary non-polyposis colorectal cancer — known today as Lynch syndrome — few believed him. He wanted his discovery to encourage people with family histories of cancer to get checked, but many experts argued against any link between family history and cancer.
March 22 is now recognized as Lynch Syndrome awareness day.
Decades after Lynch’s discovery, the Fishers were still not advised just how hereditary cancer could be, Lynne Fisher says. So the family had to suffer many more tragedies.
In 1997, her mother died of bowel cancer at 68. In 2006, her brother Clyve had a colonoscopy in August. He was given a clean bill of health. By the next April, he was dead.
“If they’d made this connection long ago, maybe they could have saved my brother’s life,” Fisher says.
Before he died, doctors finally realized that Clyve and much of the family had inherited Lynch syndrome. And, as he lay dying, said he Clyve was determined to change the family’s future. “He turned to me and said, ‘I’m going to die, but you need to get yourself tested,'” Lynne remembers. “If you don’t,” he continued, “you could die of bowel cancer.”
But knowing you should get tested for a gene that, given her history, would effectively sentence her to death is different than having the strength to get tested. At first, Fisher didn’t want to know. She felt it was her “fate” to die of colon cancer.
“I thought it was best if you don’t know and just get on with life,” she says.”Because life is worth living, not worth worrying all the time. There’s a world outside. You have to live.”
Her doctors insisted. And eventually, Fisher realized she must have the test — so her sons would know if they had to worry.
Two of her other siblings took the test and came back negative. Which made her positive result all the more shocking.
“I was shaken,” she says. “I was very numb. I couldn’t think.”
Her doctors encouraged her to have her colon removed, a surgery she feared and initially resisted. To this day, she says she believes she would not have gone through with it except for a vacation and a chance encounter with an abandoned dog.
“My husband at the time, who was very supportive, said, ‘Let’s go to Turkey for 2 weeks and we’ll talk about it in Turkey,” she recalls.
While there, they stumbled on an abandoned puppy that had been beaten, his tail cut off and his skin burned by lit cigarette stubs. Fisher spent much of her vacation forgetting about her own issues and nursing the dog back to life.
“We brought the dog back to this country. We brought him home,” she says. “And it dawned on me when I got back and the dog came back with us — and he’s a beautiful collie — that I had just saved his life so that I needed to stay alive, to keep on looking after him.”
Fisher found a second inspiration: she read that one of her idols had also contracted bowel cancer — and had removed a portion of her bowel to fight it.
In 2003, Sharon Osbourne — badgered by her husband Ozzy — underwent a colonoscopy that revealed a very small cancer toward the bottom of her colon. After her surgery she had chemotherapy and has fully recovered, honored for her willingness to publicly discuss her illness and raise awareness for bowel cancer.
“I die my hair like her, I love that lady,” Lynne says of Osbourne. “I thought, if she went through it — I’ll go through it.”
Despite Fisher’s success story, prophylactic subtotal colectomy is still seen by many doctors as a last resort.
ABC News contacted Fisher through beatingbowelcancer.org, a British charity dedicated to improving bowel cancer awareness and increasing early diagnoses. The charity also recommended speaking with Dr. Kevin Monahan of the Family History of Bowel Cancer Clinic at West Middlesex University Hospital.
Monahan argued that many doctors do not recommend the surgery because of the side effects that Lynne suffered and because preventative medicine can help fight Lynch syndrome. “Screening with colonoscopy is highly effective,” he told ABC News. “Probably one of the most effective screening tests in all kinds of cancer.”
He also cited a recent study in the United Kingdom that showed daily aspirin can reduce people’s chances of developing colon cancer by as much as 50 percent.
Even Lynch himself admits the surgery is not widely supported.
“There was a lot of reticence by physicians to do that procedure,” he said. “It’s still not fully accepted.”
But it is getting more common, and he knows some patients “desperately want to talk about it. The doctors need to listen to them.”
Lynne says she was never really given an option — her doctor said if she didn’t have it, they would soon be treating her for cancer.
Today, despite all the side effects, she doesn’t regret having the surgery.
“You have to go through that dark tunnel,” she says. “At least I didn’t have the cancer. And that’s what I have to keep remembering.”
She believes the good health she is enjoying because of her surgery means her brother Clyve, who urged her to have the test for Lynch Syndrome, didn’t die in vain.
“I’m giving it a good bash,” she says. “If Sharon Osbourne can fight it, I can fight it.”
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
Genetic testing is becoming cheaper and more widespread, promising to usher in a revolution in cancer treatment. Yet, long-standing DNA tests are often overlooked for reasons including doctors’ ignorance and financial incentives discouraging companies from marketing them.
Fifty years ago, Henry T. Lynch, then a medical resident in Nebraska, started tracking families with a high incidence of colon cancer and other tumors. While some were skeptical when he suggested the risks were inherited, geneticists proved him right in the mid-1990s by finding the genes that caused the condition. Lynch syndrome may account for about 3 percent of all colon cancer, or more than 4,000 cases a year in the U.S., said Heather Hampel, an Ohio State University genetic counselor.
A test for Lynch syndrome costs as little as $300. Still, only about 50,000 people have been diagnosed with the disease of 800,000 afflicted with it, according to Linda Bruzzone, president and founder of Lynch Syndrome International, a patient advocacy group.
“There are people dying needlessly,” Lynch, now 84 and director of the Hereditary Cancer Center at the Creighton University School of Medicine in Omaha, Nebraska, said in a telephone interview. “That is the horror of it.”
As scientists predict DNA testing will transform medicine, doctors and hospitals are ignoring existing tests that could help prevent thousands of cancer deaths, not just of their own patients, but in generations to come.
Busy primary-care doctors, who typically have little training in genetics, don’t see the warning signs in patient family histories and don’t refer those at risk to a genetics expert. Testing companies don’t advertise and market some DNA tests as much as they do more lucrative tests for breast cancer genes, Bruzzone said.
This failure to incorporate genetic knowledge into routine prevention and treatment of diseases like colorectal cancer — the second-most common cause of cancer death in the U.S. –shows how hard it is to bring the benefits of the genome to patients.
“Lynch syndrome has been around for so many years, and we’re still not prepared to tackle it,” Fay Kastrinos, director of the hereditary gastrointestinal cancer program at Columbia University Medical Center in New York, said in a telephone interview.
Colleen Carroll learned that painfully. In 2002, Carroll, a computer programmer from Plainville, Connecticut, was diagnosed at the age of 36 with ovarian cancer, the same disease that killed her sister six years before. Her grandfather and two of his siblings earlier died of colon cancer.
Both types of cancer, and several others, are linked to Lynch syndrome, which speeds up tumor growth. Nevertheless, Carroll’s doctors never ordered a genetic test for it.
If they had, Carroll’s cousin might have been helped. She could have then undergone screening to spot cancer early or had her ovaries and uterus removed to prevent tumors in those organs. Instead, Carroll’s cousin died in 2006 at age 47 from ovarian and endometrial cancer.
“My cousin’s life could have been saved had I had the appropriate test,” Carroll, wrote to her doctors at Saint Francis Hospital and Medical Center in Hartford, Connecticut. “It is a horrible feeling.”
No company has exclusive rights to Lynch syndrome gene testing, and several companies offer the tests, including Myriad Genetics Inc. (MYGN) and Ambry Genetics Corp.
As is often the case with generic drugs, companies are reluctant to pay for large marketing campaigns because of concern their efforts might not boost use of their own proprietary tests, Bruzzone said in a telephone interview. Consequently, many doctors don’t know the dangers of Lynch syndrome, she said.
“No company has enough of the market share to make it worthwhile to invest in education of doctors and patients,” Bruzzone said. “Without a strong base, you can’t get anything done.”
Sales from Myriad’s tests for Lynch and other hereditary colon cancers represented 9 percent of the company’s revenue in the year ended in June, versus 82 percent from its patent- protected tests for the BRCA1 and BRCA2 breast cancer genes.
Myriad and Ambry officials deny they skimp on marketing their colon-cancer gene tests.
Myriad “has invested substantially” in marketing and education for its Lynch syndrome test, which it has sold since 2000, said Mark Capone, president of Salt Lake City-based Myriad’s genetic-testing unit. He blamed complicated medical guidelines for Lynch syndrome tests, often involving a two-step testing process, and low patient awareness of colon cancer for underuse of the test.
Ambry Genetics, based in Aliso Viejo, California, markets Lynch syndrome testing to doctors and counselors through trade shows, conferences and talks, said Kurtis Glade, marketing director. Awareness of many genetic tests is relatively low among physicians, he said.
“We’re working to close that gap as much as we can with education,” he said in a telephone interview.
Doctors typically learn about new tests through a combination of scientific studies showing tests save lives, recommendations from specialist groups, and marketing and education sponsored by testing companies.
Unaware of the Lynch test, many primary-care doctors fail to see the warning signs in patient family histories like Carroll’s and don’t refer those at risk to a genetics expert, said Lynch, who continues to promote awareness of the condition he identified five decades ago.
Tracking down related cancers through scattered family members, finding tissues samples and ordering the genetic test can be “a hell of a lot of work” for busy physicians, Lynch said. “It doesn’t pay sufficient funds to warrant the excess of time.”
Even when doctors suggest testing, patients may forgo it for fear of stigma, although a 2008 law forbids employers and health insurers from discriminating on the basis of their DNA.
“There is a lot of fear and anxiety and apprehension” among patients, Lynch said. In some families known to carry Lynch syndrome, some relatives still put off getting the test for a decade or more, he said.
Claiming almost 50,000 lives in 2011, colorectal cancer cases often have no symptoms at early stages. More than 90 percent occur in people older than 50, according to the American Cancer Society.
Patients with Lynch syndrome have flaws in one of four major genes that are involved in repairing DNA. As a result, precancerous growths in the colon, called polyps, can quickly turn deadly. Cancers in the endometrium, small intestine, stomach and ovaries can also grow unchecked.
About half of people with Lynch syndrome develop colon cancer by age 70, and as many as one-quarter of women with the condition develop ovarian cancer by that age, according to a 2011 study in the Journal of the American Medical Association. Affected women often have their ovaries and uterus removed after having children to prevent endometrial or ovarian cancer, and patients are told to have annual colonoscopies, which can prevent many deaths, said Richard Boland, a gastroenterologist at Baylor University Medical Center in Dallas.
In 2009, a study group sponsored by the U.S. Centers for Disease Control and Prevention recommended that everyone diagnosed with colon cancer should be offered testing to detect Lynch syndrome. Any relatives of patients who are positive for the defective genes should also be tested to prevent further cases, the panel said.
Still, just 42 percent of hospitals with cancer programs routinely screen colon cancer patients for the condition, according to a survey published this year in the Journal of Clinical Oncology. A separate study of 1,220 colon cancer patients found that only 5 percent got genetic testing for Lynch syndrome.
Doctors refer twice as many patients for investigation of possible inherited breast cancer to Houston’s MD Anderson Cancer Center than for possible hereditary colon cancer, even though the two are equally as common, said Patrick Lynch, a gastroenterologist at the center and the son of Henry Lynch. Colon cancer lacks the awareness that big-name charities like the Susan G. Komen for the Cure can give, he said.
“I talk to a lot of doctors, and most of them do not know what it is,” Neil Perlman, an internist in the Chicago suburb of Lincolnshire, said about Lynch syndrome.
Perlman knew little about the condition until 2009, when he was diagnosed with Lynch-related colon cancer at 44. His younger sister died of colon cancer in 2008, and his older sister had been found to have early uterine cancer in 2005. Before that, his mother had developed colon cancer in her early 50s.
Perlman had to have most of his colon removed and six months of chemotherapy. His cancer might have been diagnosed earlier, avoiding some of the heavy-duty treatment, had he or his sisters’ doctors understood the signs of Lynch syndrome in the family, he said. And his younger sister’s cancer might have been detected when it was more treatable, Perlman said.
It was frustrating that he and his sister went to good doctors and didn’t learn about the possibility of Lynch syndrome, Perlman said.
When Traci Leopold started feeling a dull pain in her belly in 2002, she suspected it might be something serious. Her father and grandmother had died of colon cancer, and her uncle had suffered from it.
After a visit to her primary-care doctor, she was prescribed an anti-reflux medication for a hernia, she said. Months later, as the pain got worse, Leopold insisted on getting referred for a colonoscopy that revealed a rapidly spreading tumor. Leopold won’t name her former primary-care doctor.
Even then, her treating doctors never tested her for Lynch syndrome. It wasn’t until 2005, more than two years after Leopold donated tissue for an Ohio State University genetic study, that the culprit emerged. The results showed Leopold had Lynch syndrome.
“If they weren’t doing this study, I still wouldn’t know about Lynch syndrome,” said Leopold, a 39-year-old mother of two boys in Columbus, Ohio. “Genetics never came into my mind until they tested me.”
Richard Sheets, the gastroenterologist who performed Leopold’s colonoscopy, said he wasn’t aware of her family history when he first saw her. Once the tumor was found, the first focus was on treating it, not genetics, he said.
While doctor knowledge of Lynch syndrome has improved since then, “there is no doubt that awareness is not where it needs to be yet,” he said.
Today, with her cancer in remission, Leopold receives annual colonoscopies, ultrasounds and other screening tests to spot new tumors before they spread. She also plans to make sure her sons get tested when they’re teenagers.
Since 2001, the average cost of deciphering a full human genome — the complete instructions for building the body — has dropped from $100 million to less than $10,000, according to the National Human Genome Research Institute. Testing for Lynch syndrome ranges from as little as $300, when the exact mutation that runs in the family is known, to as much as $4,000 when the mutation is unknown and multiple Lynch-causing genes need to be analyzed.
When Colleen Carroll got ovarian cancer back in 2002, the only genes her doctors tested were BRCA1 and BRCA2, both widely known to be linked to breast and ovarian cancer. Those tests were negative. One doctor told Carroll, now 46, that her ovarian disease was a case of “lightning striking twice,” she recalled.
“I should have been referred to a genetic counselor,” Carroll said.
Carroll’s testing for these breast cancer mutations isn’t surprising, Bruzzone of Lynch Syndrome International said. Doctors and patients are well aware of the link between the BRCA genes and ovarian cancer because Myriad Genetics markets its patented test heavily, she said.
Hospital officials declined to comment directly on Carroll’s case. At the time she was treated, Saint Francis didn’t have cancer genetic counselors on staff, said Tina Varona, a spokeswoman. A program was established in 2010. The hospital’s protocols followed “the latest evidence-based procedures available at that time,” and some clinicians had supplementary genetics training starting in 2002, she said in an e-mail.
“In the early years of Lynch syndrome, everyone’s focus was much more on the colon cancer,” said Jonathan Sporn, chief of hematology/oncology at Saint Francis. “The potential role of non-colon cancer was not as emphasized as it is now.”
Carroll survived because she had a less aggressive tumor that was caught and treated promptly.
Her cousin, Deborah Raboin, wasn’t as lucky.
In 2005, Raboin developed simultaneous ovarian and endometrial cancer. She was also treated at Saint Francis Hospital and was seen by at least one of the same doctors as Carroll. No one thought to test Raboin for Lynch syndrome, said her sister Karen Zeena.
It wasn’t until after Raboin died in 2006 and her father developed intestinal cancer that he was finally tested for Lynch syndrome by genetic counselor Ellen Matloff at Yale Cancer Center. The positive test led to screening of other family members, several of whom have been found to have Lynch syndrome genes. Carroll’s two nieces, the daughters of Carroll’s sister who died of ovarian cancer, have been screened and found to have Lynch syndrome genes.
“I feel like there were all these dots out there and nobody was connecting them,” Zeena said.
To contact the reporters on this story: John Lauerman in Boston at email@example.com; Robert Langreth in New York at firstname.lastname@example.org
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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.