March 22, 2013
NIH Podcast Episode #0187
Balintfy: Welcome to episode 187 of the new NIH Research Radio. The new NIH Research Radio is your source for weekly news and information about the ongoing medical research at the National Institutes of Health – NIH . . . Turning Discovery Into Health®. I'm your host Joe Balintfy, and coming up in this episode our news summary at the end of the program includes items about how a sensor that can record and transmit brain activity may improve prosthetics, and how pregnant women who experienced stress had increased chance of stillbirth.
But first, our feature story...
Lynch syndrome awareness
Balintfy: You may already know that March is National Colorectal Cancer Awareness Month. Colorectal cancer, which is cancer of the colon or rectum, is the second leading cause of cancer deaths in the United States. Every year, about 140,000 Americans are diagnosed with colorectal cancer, and more than 50,000 people die from it. This month, health experts are emphasizing the importance of colorectal cancer screening. The CDC for example points out that if everyone who is 50 years old or older were screened regularly, as many as 60% of deaths from this cancer could be avoided.
What you may not know is that today, March 22 is also Lynch Syndrome Hereditary Cancer Awareness Day. And there’s a connection here. Lynch syndrome is a condition that causes increased risk of developing colon and rectal cancer, and it is inherited.
Lynch: Lynch syndrome is an autosomal dominant meaning it goes from generation to generation.
Balintfy: That’s Dr. Henry Lynch. He’s a cancer geneticist, and he’s also the person who Lynch syndrome is named after.
Lynch: It happened because I was the first really to discover the syndrome.
Balintfy: Dr. Lynch is the director of the hereditary cancer center and professor of medicine at the Creighton University Medical Center. He’s also an NIH grantee who’s been studying this condition since the early 1960s.
Lynch: You know, it was tough sledding I tell you getting funding for this because of its unbelievability.
Balintfy: Dr. Lynch explains that even though literature going back to 1895 documented a family that had was later called hereditary non-polyposis colon cancer, for many years the only established risks for colorectal cancer were the presence of polyps, growths on the surface of the colon.
Lynch: The main thing was if you don’t have polyps, you don’t have colon cancer. And of course that’s now known fully as a fallacy.
Balintfy: He says that’s one of the distinguishing features of Lynch syndrome: colon cancer without a colon loaded with polyps. Another is that the onset of cancer for Lynch syndrome patients is about 44.
Lynch: But we see cases very early and we see them very late so it’s a range, but what I’m talking about is an average age and that is around 44, which incidentally is about 20 to 25 years earlier than comparable cancers in the general population.
Balintfy: Colon cancer is only one type of cancer associated with Lynch syndrome. People with Lynch syndrome have an increased risk of more than a dozen cancers: stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, and skin. Women with this disorder also have a high risk of cancer of the lining of the uterus and ovaries. Dr. Lynch says the syndrome affects males and females equally, and adds that breast and prostate cancers have recently been added to the list. But why this increased risk?
Lynch: It is due to a mutation, a germ line mutation involving what we call mismatch repair genes.
Balintfy: Mutations or variations in the MLH1, MSH2, MSH6, and PMS2 genes increase the risk of developing Lynch syndrome. All of these genes are involved in the repair of mistakes made during DNA replication – that’s when DNA is copied in preparation for cell division. Mutations in any of these genes prevent the proper repair of DNA replication mistakes. As the abnormal cells continue to divide, the accumulated mistakes can lead to uncontrolled cell growth and possibly cancer. Dr. Lynch says these genes are technical markers for diagnosing, but there’s a low tech approach to identifying Lynch syndrome as well.
Lynch: We urge patients to develop as detailed a family history as they possibly can because it is one that can involve many members of the family.
Balintfy: Dr. Lynch already mentioned that Lynch syndrome cancer risk is inherited in an autosomal dominant pattern. That means one inherited copy of the altered gene in each cell is enough to increase cancer risk. It is also important to note that people inherit an increased risk of cancer, not the disease itself. And not all people who inherit mutations in these genes will develop cancer.
Lynch: Screening is vital.
Balintfy: Dr. Lynch emphasizes the importance of cancer screening for anyone with the genetic markers, or even anyone with a close relative that has the markers of Lynch syndrome. He not only recommends a full colonoscopy for example, but an early start.
Lynch: I start screening at about age 25 and I do this every other year until age 40 and then after age 40, I do it every year.
Balintfy: He adds that after 40, the frequencies of the cancer increase.
Meg: I was diagnosed because I had a colon cancer at 37.
Balintfy: That’s Meg. She’s a neuroscientists with a PhD in medical science and a Lynch syndrome patient. While her diagnosis wasn’t exactly typical, her family history did show clues.
Meg: I have a second cousin who had bladder cancer, which they’ve recently been debating about. A grandfather who had colon cancer but his was a late onset colon cancer.
Balintfy: Meg had half of her colon removed as part of her colon cancer treatment; she later got tested for Lynch syndrome. Meg explains that her learning that she had Lynch syndrome, meaning a higher risk for cancers, was just one step.
Meg: It’s been an uphill battle because there isn’t a lot of knowledge about Lynch syndrome especially among primary care physicians – you know, finding a primary care physician who actually knew what kind of screening I needed was difficult.
Balintfy: Meg feels she’s lucky now, and getting up to date screening and testing. She has also explained to her family and thinks they know their risk. But Meg is also concerned for other Lynch syndrome patients.
Meg: Only 5% of patients who have Lynch syndrome are diagnosed so I think a lot of that is because so many things have changed recently where we’re learning so much more about what cancers fall under the Lynch syndrome spectrum. I think updating even physician education, having the patients annually review with their physicians, their cancer history, whether new cancers have shown up in the family. I think it’s important to have more than just a few geneticists knowing about Lynch syndrome because it is a lot more common than we realize.
Balintfy: Of those 140,000 or so cases of colorectal cancer in the United State, about two, to seven percent of those cancers are caused by Lynch syndrome. Again, Dr. Lynch:
Lynch: I feel so strongly that we could save lives. We can reduce morbidity and mortality significantly through knowledge of the syndrome, through genetic testing and most importantly letting the patients know how they can help themselves through contacting their physicians, which could be gastroenterologists, primary care doctors or gynecologists, particularly gynecologic oncologist and surgeons.
Balintfy: Meg also emphasizes awareness.
Meg: There is a patient advocacy organization out there called Lynch Syndrome International where we’re getting involved in education, promoting the importance of family histories as Dr. Lynch said. If any questions, info@LynchCancers.com, somebody will get back to you. We also have a Facebook page where people can post and ask questions.
Balintfy: Again that email address Meg shared is info@LynchCancers.com. Thanks very much to Meg and to Dr. Henry Lynch at Creighton University Medical Center. More information about Lynch syndrome is also available from the NIH. You can visit the Genetics Home Reference website at http://ghr.nlm.nih.gov/. Also the Office of Rare Diseases Research website at www.rarediseases.info.nih.gov. And for more information about the screening, diagnosis and treatment for colorectal cancer, as well as ongoing research into many other cancers, visit www.cancer.gov.
Coming up how a sensor that can record and transmit brain activity may improve prosthetics, and how pregnant women who experienced stress had increased chance of stillbirth. That’s next on NIH Research Radio.
(BREAK FOR PUBLIC SERVICE ANNOUNCEMENT)
Balintfy: Now for some recent news headlines from NIH, here’s Craig Fritz.
Fritz: Researchers funded by NIH have shown that a small sensor can record and transmit brain activity data wirelessly for more than a year in early stage animal tests. In addition to allowing for more natural studies of brain activity in moving subjects, this implantable device represents a potential major step toward cord-free control of advanced prosthetics that move with the power of thought. Scientists say that for people who have sustained paralysis or limb amputation, rehabilitation can be slow and frustrating, but brain-computer interfaces harness existing brain circuitry, which may offer a more intuitive rehab experience for people who have already faced serious disabilities.
According to an NIH network study, pregnant women who experienced stress over financial and emotional issues, or other personal matters in the year before their delivery had an increased chance of stillbirth. Researchers asked over 2,000 women a series of questions, including whether they had lost a job or had a loved one in the hospital in the year before they gave birth. Scientists found that 83 percent of women whose pregnancies ended with a stillbirth reported a stressful event. One stressful event increased a woman’s odds of stillbirth by about one third, and a woman experiencing five or more stressful events was nearly 2.5 times more likely to have a stillbirth than a woman who had experienced none.
For this NIH news update, I’m Craig Fritz.
Balintfy: You can get more information on these news items and many more at www.nih.gov/news. For now, that’s it for this episode of the new NIH Research Radio. Please join us again next Friday, March 29 when our next edition will be available. Coming up in that episode…
We have seen a significant increase over the past year in the prevalence of marijuana abuse particularly among 10th and 12th graders.
Balintfy: If you have any questions or comments about this program, or have a story suggestion for a future episode, please let me know. Send an email to NIHRadio@mail.nih.gov. Also, please consider following NIH Radio via Twitter @NIHRadio, or on Facebook. Until next week, I'm your host, Joe Balintfy. Thanks for listening.
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About This Podcast
Spokesperson: Dr. Henry Lynch
Topic: Lynch, syndrome, Lynch syndrome, colon, colorectal, cancer, colorectal cancer, colon cancer, rectum, hereditary, inherit, gene, genetic, polyp, DNA, replication,