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Prediction models help identify increased risk of gene mutation linked with colorectal cancer

asing numbers of first-degree relatives with CRC or endometrial cancer. Probands with mutations had a younger average age at CRC diagnosis than those who did not have mutations, and the age at diagnosis of CRC and endometrial cancer was also younger among the relatives of probands with mutations.

"How these risks are translated into clinical decision making depends on a variety of factors, including the availability of comprehensive genetic testing services (sequencing and large rearrangement analysis), the timelines of testing information for clinical management decisions, insurance coverage for testing, and the availability of tissue for analysis. Based on the risk estimate generated from the model and the above factors, a clinician may choose whether genetic evaluation should be pursued, as well as the approach to testing " the authors write.

"Our prediction rule includes specific and discrete variables and does not rely on complex combinations of diagnoses across generations. The PREMM1,2 model has been externally validated and is available as a user-friendly Web-based model to provide clinicians with an objective tool to estimate the likelihood of finding mutations in the MLH1 and MSH2 genes and to help guide the strategy for molecular evaluation," the researchers conclude. (JAMA. 2006;296:1469-1478. Available pre-embargo to the media at www.jamamedia.org.)

Editor's Note: Dr. Balmana is currently with the Universitat Autonoma Barcelona, Spain. Please see the article for additional information, including other authors, author contributions and affiliations, financial disclosures, funding and support, etc.


Model Helps Predict Risk of Developing Colorectal Cancer

In a related study, investigators used family medical history and tumor information to develop another model to predict genetic risk for colorectal or endometrial cancer, according to an article in the S
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Contact: Janet Haley Dubow
617-632-5665
JAMA and Archives Journals
26-Sep-2006


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