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Baylor College of Medicine

BCM launches Cancer Exome Sequencing test

Glenna Picton


Houston, TX -

The Cancer Genetics Laboratory at Baylor College of Medicine now offers the Cancer Exome Sequencing test, which uses next-generation sequencing to identify acquired changes in the DNA of a patient's tumor.

"Cancer exome sequencing is poised to change the current paradigm of genetic testing for cancer patients," said Dr. Federico Monzon, director of molecular pathology at the Cancer Genetics Laboratory at BCM. "Rather than testing a single gene or panel of genes, cancer exome sequencing will provide comprehensive profile of acquired mutations in tumor tissue."

The term exome refers to the portion of the human genome that contains the DNA sequence that directs protein synthesis. These functionally important regions of DNA are referred to as exons. The 22,000 known genes are comprised of approximately 180,000 exons and represent about 3 percent of the genome.

Most errors in DNA sequence that lead to altered protein function in tumors are located in the exons; therefore, exome sequencing is an efficient method for tumor DNA sequence analysis to uncover genetic causes for tumor behavior.

Some of these acquired mutations can be used to predict tumor aggressiveness or determine the likelihood of response/resistance to targeted agents or other forms of cancer therapy.

"We are entering a new era in individualized cancer diagnosis and treatment in which molecular profiling of the cancer as well as the patient will determine the optimal therapeutic approach for a given patient," said Dr. C. Kent Osborne, director of the Lester and Sue Smith Breast Center and the NCI-designated Dan L Duncan Cancer Center at BCM.

Developed jointly by the Cancer Genetics Laboratory and the Whole Genome Laboratory at BCM, this test is the result of collaboration between genomic and clinical laboratory scientists, pathologists, geneticists and oncologists to provide reliable cancer genome-wide analyses that are carefully annotated and interpreted for clinical significance by cancer geneticists and molecular pathologists.

The test must be ordered by a physician.

For more information or to request the test, please contact the Cancer Genetics Laboratory at 877-798-1063 or visit the Cancer Genetics Lab website.

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