HNPCC Info

Get the Facts: http://genefacts.org Lynch syndrome is a cancer predisposition syndrome caused by inherited mutations in genes responsible for correcting DNA replication errors. Individuals with Lynch syndrome have a greatly increased risk for colorectal, endometrial, and stomach cancers, and a moderately increased risk for other cancers. Key Points 1-3% of colon cancers attributable to Lynch syndrome Dominant inheritance with reduced penetrance (not all patients with mutations will manifest disease) Diagnosis based on clinical and family history, tumor pathology and/or genetic testing Screening and prophylactic surgeries effective in reducing some, but not all cancer risks Mutations in any of several genes can cause the syndrome

  8/4/2010:   Hello everyone, I am Dr. Muin Khoury, director of the Office of Public Health Genomics at the Centers for Disease Control and Prevention. You may have heard about different tests. You may even have had patients ask you about these tests or share the results with you. So why aren't personal genomic tests ready for primetime? There are 3 key factors that must be considered in the development and evaluation of genetic tests in clinical practice. First, there is the test's analytic validity, which is the test's ability to accurately and reliably measure the thousands of genetic variants on these tests. In many cases, personal genomic tests do meet quality standards for laboratories. The second thing we have to look at is the clinical validity of these tests, which is the ability of the test to detect or predict particular diseases and health conditions. This is the area for which the data are in so much flux right now. Most common diseases, as ...

This article has been published in the most recent edition of the Med Surg Nursing Journal. The article will be attached as a downloadable file in the very near future. This is an article that was a tribute to my mom. Her wish was to have me continue the journey of educating people on this genetic form of cancer. This article is just one more step in that journey.

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.

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).