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Next Generation Sequencing-Based Tumor Genomic Profiling Aids in Detecting Hereditary Variants in Cancer Risk Genes

  • From Prevention Matters Newsletter, Spring 2016 [PDF]

    More cancer patients are having their tumors tested using comprehensive genomic tumor profiling (GTP). The testing helps to find genetic changes in tumors that can be treated by precision therapies. This means that cancer is treated based on a person’s genes, rather than by specific location in the body, such as the breast or colon.

    In a new study, Dr. Michael Hall, along with Foundation Medicine, examined 15,060 tumor samples using Next-Generation Sequencing (NGS) technology, which is more accessible, quicker and cheaper than previous methods. Investigators looked at 20 hereditary cancer risk genes. The American College of Medical Genetics and Genomics determined these genes to be very important to share with patients if a variant (inherited alteration) is found by genomic testing.
    The study found that 30.8 percent of tumors had at least one germline variant (inherited alteration in a gene or cell that can be passed to children) in a cancer risk gene. A likely pathogenic variant (alteration in a gene which is likely to contribute to the development of cancer) was found in about 3.1 percent of tumors, and suspicious alteration in 3.9 percent of tumors.

    Based on these results, it is predicted that 3-7 percent of patients receiving genomic tumor profiling using Next-Generation Sequencing (NGS) could have a genetic mutation inherited from a parent. Dr. Hall presented the study results at the 2015 American Society of Clinical Oncology Annual Meeting in Chicago, IL.