GENETIC TESTING for HEREDITARY CANCER SYNDROMES Resource Guide
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Comprehensive COLARIS® or MSH6 Analysis
GENETIC VARIANT OF UNCERTAIN SIGNIFICANCE

The term genetic variant of uncertain significance means that the test found a genetic change in MLH1, MSH2 or MSH6 but its relationship to hereditary cancer, if any, is not yet known. At the present time, your patient's medical management should be based on the strength of his/her personal and family history of cancer, similar to the approach for a no mutation detected result. Please click here for more details on this concept and case examples to illustrate important points.

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COLARIS® Genetic Variant of Uncertain Significance

Research is ongoing to determine the meaning of genetic variants of uncertain significance. Past studies show that many genetic variants turn out to be harmless or unrelated to increased cancer risk. For this reason, you should NOT assume that a variant is actually a disease-causing mutation. However, a small number of uncertain variants have also been shown to be deleterious or associated with increased cancer risk. Thus, you should also NOT assume that the variant result is benign.

Each time a genetic variant of uncertain significance is reported, a report with additional information is included. This report is referred to as the MGA form.


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Introduction
Informed Consent Case Study
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Background
MLH1 and MSH2 Genes
Cancer Risk
Testing Guidelines
Test Results and Medical Management