What you don't know. What I didn't know. What has known me all along...
Lynch Syndrome is an inherited condition often referred to as Hereditary Non-Polyposis Colorectal Cancer (HNPCC). There are many variations of this condition, or syndrome, this genetic mutation, this very real threat to those who are most often silently affected. MLH-1 R226X 676CT is the variation my aunt was confirmed positive with for Lynch Syndrome. She had uterine cancer at age 50, colon cancer at age 59, and because her father died from colon cancer, her physician recommended genetic testing. Previous to this, the family called it “bad luck”, as if we were under some sort of curse. It would be funny to think, how elementary the logic if it weren’t so scary… But in fact, genes are that curse of bad luck, that blessing of good health, and everything in between. While it may not make national news, this topic of genetics and of Lynch Syndrome has very recently made waves in my family. My brothers’ very recent trip to his gastroenterologist for a colonoscopy brought about questions of family history, and because of a simple pedigree I constructed a month prior, he was aware of our relative with Lynch Syndrome. Of course, he also mentioned our mother (my aunts’ sister) had been diagnosed with colon cancer at age 51 and uterine cancer at age 62. The GI doctor strongly recommended that our mother be tested for Lynch as well, and provide the geneticist with the specific mutation pattern identified in her sister’s DNA repair genes. Since Lynch Syndrome, or HNPCC, runs in an autosomal dominant pattern, my mother, and aunt with Lynch Syndrome, would respectively have the same genetic mutation; as they would have both directly received the mutation from the same parent. The GI doctor further explained that if my mother does not have Lynch Syndrome, that my brother, nor his children, would need to be tested. Although, if she did test positive, he ought to be tested as soon as possible. In 1949, my maternal grandfather died of colon cancer at 33 years of age. Both my mother and aunt had their first bouts with colon cancer over 20 years ago. My aunt was not confirmed with the genetic disorder until 14 years ago. Now in 2014, it is finally a family discussion. This is a testament to how far the medical community has come in its understanding of genetics. Unfortunately, it is too, a certain sign of the overall lack of communication pertaining to its implications and impacts. The following three paragraphs will look respectively at three articles written. I assume, they are intended for public consumption and knowledge concerning the genetic disorders collectively known as Lynch Syndrome.
Familiarize yourself with the faces of Lynch Syndrome
This article about a 15 year old boy in England who has passed after his fight against colon cancer is stressing awareness. The father of Stephen, the 15 year old boy, had been diagnosed twice with colorectal cancer, and it was confirmed that he had Lynch Syndrome. After his son began showing signs of colon cancer, which he knew all too well, he attempted to get testing for his son, and suggested that colon cancer associated with Lynch Syndrome may be the culprit. Medical professionals denied the testing, claiming that Stephen was too young, and that many teenagers go through similar bowel problems. After problems persisted, it was discovered that Stephen had colon cancer, and by this time, the damage was too much. The article sites, “there are more than 1,000 cases of bowel cancer a year that are attributable to the syndrome, yet fewer than 5 per cent of families with the condition in the UK have been identified”. Knowing that Lynch Syndrome is present in your family, and if tested positive for Lynch Syndrome, should call for extremely heightened preventative measures as to catch any problems before they are too great. Gastroenterologists ought to be very informed on this genetic disorder, and should be at the forefront of spreading knowledge concerning the implications carried with Lynch Syndrome. Knowing that my aunt was positively identified as having Lynch Syndrome almost 15 years ago, my mother’s having two types of cancer that are associated with Lynch, and the fact that my brother and I are just this week talking about what this means for us, speaks volumes of how under communicated this issue is.
If only all nurses could refer those at risk to this article...
This site is comprehensive and does not speak “over the head” of the reader. The article explains Lynch Syndrome from the ground up. It even offers direct toll free assistance for further questions and clarity. There is an immediate explanation of the difference between sporadic cancers, and cancers of genetic predisposition. Most cancers are sporadic, and while it may look like a family is “passing” a certain cancer through its’ ranks, it is most often a cancer caused by the environment in which the family lives. Lynch Syndrome is the result of a mutated gene, says the article. Rather than getting very technical, it breaks down the science of the matter into a short and very digestible explanation. The reader is presented with what hereditary cancers are, with what hereditary gene mutations cause Lynch Syndrome, how Lynch Syndrome can affect their lives, and an understanding of what genetic testing can offer in the way of protecting themselves and their families. I honestly think this entire article is worth quoting, but I have selected a couple that stand out for what I want to emphasize in this paper, EDUCATION and COMMUNICATION… “Most individuals who are diagnosed with Lynch syndrome, by genetic testing, sing praises as to the benefits. Not only are they monitored closely by medical professionals, their families also have an opportunity to be protected and to live longer lives”. When speaking about how knowing whether or not Lynch Syndrome is in your family the article advises, “dependent upon your family history, your needs and understanding of genetic testing, it’s important to speak with your genetic counselor and your health care provider to determine if testing is good for you and for your family”. The article informs and implores readers to learn more in order to save lives. Spreading this amount of knowledge through the medical world, especially to nurses - the patient advocates, could change and possibly save the lives of thousands. We need to provide nurses with the knowledge, so they are better equipped to recognize and point out indicators for Lynch Syndrome.
The article that scares me, and here's why:
This article released by the University of California San Francisco (UCSF) is a bare bones look at Lynch Syndrome… The article hits on some important facts surrounding Lynch Syndrome. It points out that colon cancer is heavily associated with Lynch Syndrome, and that if one has familial history of colon cancer, genetic testing for Lynch Syndrome may be vital in preventing cancer and saving lives. It also offers a tabbed section that gives a brief look into the signs, symptoms, diagnosis and treatment. People like ‘tabs’ and the like to click, and they have short attention spans. So, I can understand the necessity for a short and sweet article on the topic of discussion. It is my humble opinion that this article could be very dangerous, and work against itself, if the goal is indeed to inform and empower people to actively defend themselves from this possibly deadly hereditary mutation. The following are colorectal cancer statistics in the United States from cancer.net, “this year, an estimated 136,830 adults in the United States will be diagnosed with colorectal cancer. These numbers include 96,830 new cases of colon cancer and 40,000 new cases of rectal cancer. It is estimated that 50,310 deaths (26,270 men and 24,040 women) will occur”. The second sentence of the UCSF article declares Lynch Syndrome as “a rare inherited genetic disorder”. It goes on to say that “nearly 3 percent of all colon cancers are caused by Lynch Syndrome”. Things that are “rare”, usually get less attention, and people are more apt to dismiss it, as something that won’t happen to them. Three percent is again, not a number that calls out for attention. Furthermore, I do not think that it is fair to say the percentage of colon cancers that are caused by Lynch Syndrome without noting that it is hugely understudied, and that only a few institutions across the country conduct testing on each case of colon cancer they see. I am not suggesting that scare tactics need be used, but don’t put something that is already in the shadows, behind a closed door.
Conclusion to Lynch Syndrome in the News
Lynch Syndrome, first known as Hereditary Nonpolyposis Colon Cancer are cancers caused by mutations in DNA repair genes. Lynch Syndrome is most often associated with colon and endometrium cancer, but is associated with the increased risk of several other cancers. The risk of colon cancer skyrockets up to 80 percent higher in those with Lynch Syndrome, and 60 percent higher risk of endometrial cancer. The other associated cancers are significantly lower percentages, but still notably higher than the general population. I chose three very different articles to highlight in this discussion… The “Telegraph” article form England was an easy, but awesome find, as it put a face (a 15 year old face) to the genetic disorder. It essentially humanized what would have otherwise just been another misunderstood “disease”. The Lynch Syndrome International article is possibly one of the best written articles I have ever read on any disorder/disease process. This is where I would immediately refer someone if they informed me of a family history plagued with colon or endometrial cancer. By the end of the article the only question left is, “where do I get tested?” If that is not enough, it has a link and a telephone number to provide you with your nearest genetic testing facilities or options. The UCSF article is in my opinion, awful. Not only is it much too vague, but also dangerously misleading because it under informs. My family’s connection to Lynch Syndrome I am sure has much to do with my distaste for the article. As, it is this under acknowledgement and lack of forward communication that allowed my mother to have both colon cancer, and endometrial cancer without anyone ever suggesting Lynch Syndrome as the culprit. It is gross negligence, if her doctors were aware of the threat and aware that she currently has five children and thirteen grandchildren whose lives may very much depend on the education or the acknowledgement of existence for that matter of this “rare” genetic disorder. Equipping nurses with the knowledge is key. Think about how many lives can be affected if every nurse heard a patient has had colon and endometrial cancer, and immediately spoke up about the possibility of Lynch Syndrome and the implications it carries.
Colorectal Cancer: Statistics. (2014). Cancer.Net.
Genetic Testing. (24 May 2013). Lynch Syndrome International.
Lynch Syndrome. (n.d.). The Regents of the University of California.
Perry, K. (13 Nov 2014). Stephen Sutton's father: If doctors had listened to me, he might still be with us. The Telegraph.