hat grade the severity of missense substitutions (at the genomic level, these mutations affect only a single structural unit of DNA rather than an entire gene; at the protein level, they affect only a single amino acid rather than the entire protein). The second describes how clinical data concerning the tumors, family history, and other factors were combined with that initial information about severity. Taken together, the procedures described in the two papers allow previously unclassified genetic variations to be assessed for the level of risk they pose in colon cancer development.
"Using these tools, we can evaluate any particular missense substitution and come up with a percentage indicating the probability that it is pathogenic," said Tavtigian. "I'm very careful to avoid saying pathogenic or neutral as an either-or statement. With missense substitutions, I don't believe in a binary classification." A scale developed by his team in 2008 indicates the appropriate level of clinical action for a given percentage of risk, he adds.
Tavtigian is senior author on the first study. Amanda B. Spurdle, Ph.D., associate professor of molecular cancer epidemiology at the Queensland Institute of Medical Research, Brisbane, Australia, is senior author of the second paper, and Tavtigian is a co-principal investigator.
As a result of this research, HCI now has a Web site that physicians, researchers, and even the public can use to look up the probability that a missense substitution in any of the four colon cancer mismatch repair genes is pathogenic. In the future, HCI plans to develop a "suite of Web sites dedicated to unclassified variants in many clinically important cancer susceptibility genes," according to Tavtigian.
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