HNPCC Info

This poem was sent to me by my cousin Hewitt Madigan's girlfriend Hazel. Hewitt wrote this poem for a friend a week after his friend's brother died. Hewitt died in 2006 from pancreatic cancer. His mother, Judy Madigan, died of colon cancer in 1983. His brother Joel had a colonoscopy after we informed him of the genetic connection. Joel had a partial colectomy due to a cancerous polyp in his colon. Hewitt Madigan, 1957 - 2006 make up a day minute by minute tell me who was and who wasn't in it was the morning a long one the afternoon hot were the fields there pretty were you happy or not? make up a week, day by day tell me who came and who went away did it seem to go fast did it seem to go slow was it during the summer or deep in the snow? make up a life time, the minutes, the days remember the laughter in all of its ways make up a lifetime, the months and the years let me always be with you through the laughter and tears. to jeff from hewitt 6/16/78

Everyone should care about the potential for genetic discrimination. Every person has dozens of DNA differences that could increase or decrease his or her chance of getting a disease such as diabetes, heart disease, cancer or Alzheimer's disease. It's important to remember that these DNA differences don't always mean someone will develop a disease, just that the risk to get the disease may be greater. More and more tests are being developed to find DNA differences that affect our health. Called genetic tests, these tests will become a routine part of health care in the future. Health care providers will use information about each person's DNA to develop more individualized ways of detecting, treating and preventing disease. But unless this DNA information is protected, it could be used to discriminate against people.

The carcinoembryonic antigen (CEA) test measures the amount of this protein that may appear in the blood of some people who have certain kinds of cancers, especially large intestine (colon and rectal) cancer. It may also be present in people with cancer of the pancreas, breast, ovary, or lung. CEA is normally produced during the development of a fetus. The production of CEA stops before birth, and it usually is not present in the blood of healthy adults. Why It Is Done The carcinoembryonic antigen (CEA) test is used to: Find how widespread cancer is for some types of the disease, especially colon cancer. Check the success of treatment for colon cancer. CEA levels may be measured both before and after surgery to evaluate both the success of the surgery and the person's chances of recovery. CEA levels may be measured during treatment with medicines to destroy cancer cells (chemotherapy). This provides information about how well the treatment is working. Check to see if cancer has ret...

Everyone should care about the potential for genetic discrimination. Every person has dozens of DNA differences that could increase or decrease his or her chance of getting a disease such as diabetes, heart disease, cancer or Alzheimer's disease. It's important to remember that these DNA differences don't always mean someone will develop a disease, just that the risk to get the disease may be greater. More and more tests are being developed to find DNA differences that affect our health. Called genetic tests, these tests will become a routine part of health care in the future. Health care providers will use information about each person's DNA to develop more individualized ways of detecting, treating and preventing disease. But unless this DNA information is protected, it could be used to discriminate against people.

Somatic mutations in the hMSH2 gene in microsatellite unstable colorectal carcinomas. A L Børresen et al. Human molecular genetics 4 (11), 2065-72 (Nov 1995) Microsatellite instability is frequently seen in tumors from patients with hereditary nonpolyposis colorectal cancer (HNPCC). Germline mutations in the mismatch repair gene hMSH2 account for approximately 50% of these cases. Tumors from sporadic cases also exhibit this microsatellite instability phenotype, although at a lower frequency, and very few somatically derived mutations have so far been reported in such tumors. In this study DNA from 23 primary colorectal carcinomas (four familial and 19 sporadic cases) exhibiting microsatellite instability were screened for mutations in the hMSH2 gene using constant denaturant gel electrophoresis (CDGE). Among the sporadic cases, five (26%) were found to have somatically derived mutations. One tumor revealed two different mutations, possibly leading to a homozygous inactivation of the ge...

So after the surgery and the drama what kind of surveillance should a HNPCC carrier have? Since they are at risk for other abdominal cancers like liver, pancreatic, uterine, ovaries, kidneys and small bowel. Some tests that can be done are transvaginal ultrasounds, ultrasound of the kidneys, upper GI, small bowel follow through, sigmoidoscopy, endoscopic exam of the upper GI just to name a few. After surgery, it probably should be determined who will do the followup, the surgeon, gastroenterologist or your primary care physician. The decision would likely depend on who is most knowledgeable about risk factors and current best practice. I will describe some of these tests in upcoming days, so that you can find out what those experiences are like.

How is it used? CEA is most useful to monitor treatment of cancer patients. It is used with patients who have had surgery to measure response to therapy and to monitor whether the disease is recurring. A blood test for CEA is often used as a tumor marker . Physicians can use CEA results to determine the stage and extent of disease and the outlook in patients with cancer, especially gastrointestinal (GI) and, in particular, colorectal cancer . CEA is also used as a marker for other forms of cancer. It has been found helpful in monitoring patients with cancer of the rectum, lung, breast, liver, pancreas, stomach, and ovary. Not all cancers produce CEA; therefore, the CEA test is not used for screening the general population. [ Back to top ] When is it ordered? A CEA test is ordered when the patient’s symptoms suggest the possibility of cancer. The CEA level is also tested before treatment in cancer patients, especially patients with GI cancers. CEA levels are monitored during therapy. It...

Reducing the Risk of Colon Cancer Here are some of the preventive steps you and your doctor can take if your genetic test indicates a risk of developing an inherited cancer: Increased Surveillance Colonoscopy every one to two years beginning at age 20-25 or 5-10 years before the earliest age of a diagnosed colorectal cancer in your family, whichever comes first. Colonoscopy annually after age 40. Preventive Surgery If colon cancer (or an advanced precancerous polyp) is diagnosed in a patient with HNPCC , a full, rather than partial, colectomy is recommended. In carefully selected people, for example, those not willing or able to undergo periodic screening, preventive colectomy may be an option based on a positive genetic test result for HNPCC. Preventive Drug Therapies for Colorectal Cancer: Different drugs for the prevention of colorectal cancer are currently being researched for individuals with HNPCC. None of these drugs are currently approved by the FDA for this purpose. Increa...

Lynch Syndrome: HNPCC There are many reasons to wonder about your risk of colorectal or endometrial cancer - your environment, your diet, your family history. As many as 150,000 new cases of colorectal cancer and over 40,000 cases of endometrial cancer are diagnosed each year. While the majority of colorectal and endometrial cancers are sporadic , or not caused by inherited risk factors, research has shown that up to ten percent of these cases are due to inherited cancer syndromes. One of these inherited syndromes is known as hereditary nonpolyposis colorectal cancer ( HNPCC ). Individuals with HNPCC have up to an 80 percent risk of colorectal cancer and up to a 71 percent risk of endometrial cancer by age 70. This is a large risk compared to the general population's risk, which is just two percent for colorectal cancer and 1.5 percent for endometrial cancer. Additionally, people with HNPCC may have more than one type of cancer. These cancers may be diagnosed at the same or at diff...

HNPCC Info: Genetic Discrimination and health care: http://thomas.loc.gov

What's the Genetic Information Nondiscrimination Act (GINA)? The Genetic Information Nondiscrimination Act of 2008, also referred to as GINA, is a new federal law that protects Americans from being treated unfairly because of differences in their DNA that may affect their health. The new law prevents discrimination from health insurers and employers. The President signed the act into federal law on May 21, 2008. The parts of the law relating to health insurers will take effect by May 2009, and those relating to employers will take effect by November 2009. What's genetic discrimination? Genetic discrimination occurs if people are treated unfairly because of differences in their DNA that increase their chances of getting a certain disease. For example, a health insurer might refuse to give coverage to a woman who has a DNA difference that raises her odds of getting breast cancer. Employers also could use DNA information to decide whether to hire or fire workers.

To him who devotes his life to science, nothing can give more happiness than increasing the number of discoveries, but his cup of joy is full when the results of his studies immediately find practical applications. — Louis Pasteur

Even if you have the information, you are a nurse and you want to advocate for better assessment and or screening, you can't get it done. The knowledge might be there but not the values to improve the health care. Even when one is in a position to have some influence. First of all - congrads on the article! I'm not sure exactly where you should start. Were you interested in initially working with a subset of women (e.g. maternity)? If that were the case I'd start perhaps with blank and blank (or whoever is OB chief). If you were thinking of a broader population, perhaps blank would be a good place to start. Just to muddy the waters a little - I totally understand what your mission is and it sounds like a great way of potentially saving lives. On the other hand, keep in mind that everyone is supersensitive to the amount of documentation nsg is required to do and the amount of data collection/assessments that continues to fall on the staff nurse. (I just had this conversation...

I got a call last night from Dr. Aran. He read the article that I did on HNPCC. We discussed how even if you are diagnosed there is no benefit to extra screening or precautions. It didn't help mom or effect the way she was treated. The title of the manuscript is HNPCC: Change the name to protect the innocent.

Yesterday I was very emotional, I think that bringing up mom makes brings out a lot of emotions that I haven't experienced. I guess that is part of the grief process and it keeps coming back. On Sunday I imagined she was talking to me like "I told you so". I am still angry about mom and that being diagnosed with HNPCC did not do her a bit of good. It isn't like they did any thing different. The surgeon didn't even do the surgery. He does research but if he doesn't pay attention to the basics of caring for his patient and treating them with respect I have no respect for him.

Cancer risk is also increased in genetic forms of colon cancer. There are two known genetic forms of colon cancer: familial adeno-polyposis (FAP) and hereditary nonpolyposis colon cancer (HNPCC). Genetic inherited cancers account for 5-10% of all colon cancers (Burt, 1997). Researchers have identified single genes that lead to colon cancer susceptibility. These genes are transmitted to offspring through an autosomal dominant pattern; offspring of these carriers have a 50% chance of inheriting the gene mutation and the associated risks (Glaser, 1998).

Even though I have been diagnosed with HNPCC, I did not meet the criteria most physicians use to determine risk for HNPCC. The Amsterdam criteria is a tool used by many physicians and health care workers for determining risk for HNPCC. I would not have been high risk because I did not have a first degree relative who had colon cancer, although my twin sister had a history of polyps at 18 and 26 and I did in my 30s.

http://www.fascrs.org/patients/family_history_registries/ What benefit is there to joining a registry? When I discovered I had HNPCC, I contacted Creighton University. I could fill out the paperwork but what would that do? They don't do anything with it. You give confidential information and your on their list. It doesn't mean you will get additional screening or access to leading advocates for HNPCC. It is another theme of the process, its just a name it doesn't do anything for you. I was filling out the forms and realized they didn't invite me, they aren't going to do anything for me so why fill it out? In the same theme, it doesn't mean very much to every surgeon if you are an HNPCC carrier, that is very evident in how my mother was treated for her colon tumor. It was a name only, it didn't predict that the surgeon was going to do anything different.