HNPCC Info

What is Lynch syndrome? Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an increased risk of cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, and skin. Additionally, women with this disorder have a high risk of cancer of the ovaries and lining of the uterus (the endometrium). People with Lynch syndrome may occasionally have noncancerous (benign) growths (polyps) in the colon, called colon polyps. In individuals with this disorder, colon polyps occur earlier but not in greater numbers than they do in the general population. Follow this link for resources: http://ghr.nlm.nih.gov/ condition/lynch-syndrome# resources

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

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...