Advisor

Dr. Pamela Langer

Abstract

With the development of next generation sequencing, the availability and effectiveness of genetic cancer panels is at an all-time high. In the past, largely only single gene tests were available to test for the presence of some high penetrance genes, such as BRCA1 and 2. Single gene tests are less likely to give conclusive and clinically useful results due to the limited amount of data collected and heterogeneity of cancers. The benefits of full cancer panels from popular companies such as Myriad, GeneDx, and Ambry Genetics include greater sensitivity results and therefore a more conclusive estimate of potential risk. The major clinical implications of cancer panels can help influence the course of medical decisions by the practioner. Interpreting results showing variants of unknown significance, effectively communicating and establishing patient understanding, and the psychological effects on the patient from increased knowledge are challenges that underline the implication of cancer panel use.

In the case of cancer development, molecular management strategies including tumor markers and other tumor expression profiling methods can be used to significantly improve patient therapy by creating a personalized treatment based on the clinical genomics of a patient’s cancer.

Key Words: Cancer, gene expression, BRCA1, BRCA2, p53, APC, tumor marker, expression profiling, Oncotype Dx, personalized therapy

Department

Zoology and Physiology

Publication Date

Spring 2016

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