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Saturday, March 06, 2010
repost: Genomics|Genetic Testing|EGAPP Recommendations|Lynch Syndrome
About Lynch Syndrome
Lynch syndrome refers to individuals with hereditary predisposition to colorectal cancer (CRC) and other malignancies as a result of an inherited mutation in a specific type of gene known as a mismatch repair (MMR) gene. Lynch syndrome includes those with an existing cancer as well as those who have not developed cancer.
* Also referred to as hereditary nonpolyposis colorectal cancer (HNPCC)
* Autosomal dominant inheritance pattern (50% risk to offspring to inherit the gene mutation)
* The lifetime risk for CRC in individuals with Lynch syndrome reported in the literature ranges from approximately 20-80%, dependent upon:
o Gene involved
o Sex of the individual
o Population studied
* Mean age of onset of CRC is approximately 45 years
* Increased risk for other malignancies including: endometrial, ovarian, urinary tract, gastric, small bowel, pancreatic, and sebaceous skin tumors
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