Description
Genetic defects can be passed from parents to their children; as a result, colon and endometrial cancers run in families. An individual with a mutation in a gene that is associated with colon cancer may have an increased risk of developing cancer.
Lynch Syndrome, also known as hereditary nonpolyposis colorectal cancer, is characterized by the inheritance of defects in the MLH1, MSH2 and MSH6 genes, known as mismatch repair (MMR) genes. MMRpro is a statistical model with associated software that estimates the probability an individual carries such a mutation, based on his or her family history of colorectal and endometrial cancers. The results will give useful information about an individual's colon cancer risk before he or she decides to undergo invasive screenings or expensive genetic testing.
MMRpro is being maintained as part of the Hopkins SPORE in Gastrointenstinal Cancer with Giovanni Parmigiani and Francis Giardiello as project leaders. It is currently distributed free of charge for research and counseling use through BayesMendel or CaGene, by David Euhus, described below.
BayesMendel R Library
BayesMendel is a package for use with the freeware program R. To run BayesMendel, users should be familiar with R. An Introduction to R and other free R tutorials are available on the web.
CaGene Package
CaGene, by David Euhus, is a user-friendly package that can be downloaded and run on Windows. Register and download CaGene here for free.