10. Test Your Tumor's Genetic Makeup

Ask your doctors to have your tumor genetically analyzed. Testing for specific gene mutations can better guide your treatment options.

We know that gene mutations and other changes in the genetic makeup of your tumor contribute to its origin and growth and determine whether your tumor will respond to particular cancer drugs. In breast cancer, for example, several mutations have been identified that help doctors to best treat and frequently cure this disease. In brain cancer, however, genetic profiling is in much earlier stages of research. While it is mostly an area of science that is still in experimental stages, a few genetic correlations have been identified and can help guide treatment decisions.

Because genetic profiling and personalized medicine are so new, most doctors and medical centers do not yet test for these mutations. With current infrastructure, these tests can often take so long that they become unhelpful for patients. However, it may still be worth talking with your doctor about whether they have the capacity to run these tests. Alternatively, your doctor can send your tumor material for genetic profiling at a commercial lab.

There are many mutations that may be playing a role in your brain tumor and its treatment. The best researched[1] genomic alteration is the MGMT promoter methylation status. An active MGMT gene will repair cells that are damaged by certain chemotherapies. Knowing your MGMT status can help predict whether temozolomide will be an effective treatment. This may be especially helpful since temozolomide is part of the standard treatment for brain cancer.

Some known mutations, including IDH1 status and EGFRvIII status, are subjects of current clinical trials. It may be worth asking your doctor about these genetic tests if you have already exhausted standard treatments or have decided that the standard treatments aren’t right for you. Ask your doctor about available clinical trials, many of which will depend on knowing the genomic profile of your tumor.

ABC2’s Allele Project aims to both advance research on brain tumor genomics and directly help patients in need. ABC2’s new initiative will help patients to get their tumor profiled in a timely manner and help guide treatment planning according to the results. Beyond benefiting patients battling brain cancer, it will also advance this young field of genomic and personalized medicine.

After making decisions with your doctor about analyzing your tumor, the process is simple from the patient’s perspective. As your tumor is resected during surgery, it will be taken to the pathology laboratory, where the pathologist will test it. Some profiling can be done or aided with a blood sample, in which case a nurse will take a sample of your blood, which will be sent to a lab to be analyzed. After the test, the lab will send the results to your doctor. The doctor will determine your course of treatment based on the results.”[2]


Video: Understanding Role of Molecular Profiling in your Treatment

American Brain Tumor Association, DNA Profiling

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[1] “Temozolomide’s Effect on Low-Grade Gliomas,” Accelerate Brain Cancer Cure, http://abc2.org/ucsf.

[2] “Brain Tumor Profiling,” American Brain Tumor Association, http://www.abta.org/brain-tumor-information/diagnosis/dna-profiling.html.