GENETIC TESTING for HEREDITARY CANCER SYNDROMES Resource Guide
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Comprehensive MELARIS®
GENETIC VARIANT OF UNCERTAIN SIGNIFICANCE

The term genetic variant of uncertain significance means the test found a genetic change in p16 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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MELARIS® Genetic Variant of Uncertain Significance

Research is on-going to determine the meaning of genetic variants of uncertain significance. Past studies show that most genetic variants are ultimately reclassified as harmless, that is, unrelated to increased cancer risk. For this reason, you should NOT assume that the variant result is actually a disease-causing mutation. However, a small number of uncertain variants have also been shown to be deleterious, that is, 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
p16 Gene
Cancer Risk
Testing Guidelines
Test Results and Medical Management