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BRCA basics and breast cancer testing

by Lucy Langer, M.D. (with Deston Nokes)

PORTLAND FAMILY —September 2013 — Last June, the Supreme Court of the United States released its unanimous ruling that human genes are not patentable. This decision in the case of Association for Molecular Pathology vs. Myriad Genetics, Inc., means is that that genetic testing for alterations in the BRCA1 and BRCA2 genes will no longer be limited to one laboratory (Myriad). Dr. Lucy R. Langer, MD MSHS, who serves as the medical director for the Compass Oncology Genetic Risk Evaluation And Testing (GREAT) Program, recently wrote about the implications of this landmark decision.

BRCA.articleQ. What is the benefit of this ruling to patients? 
Dr. Langer: There will be more options for patients in the United States who wish to be tested, and the price of this testing will come down significantly. Already, on the day after the announcement, several labs released statements declaring their readiness to start testing by offering the test alone or as part of a comprehensive cancer genetics testing panel.

Q. What are BRCA1 and BRCA2 genes?
Dr. Langer: Mutations in the genes BRCA1 and BRCA2 are associated with a very high risk of breast and ovarian cancer. The incidence of these mutations is about 1 in every 400 individuals in the general population, and 1 in every 40 individuals of Ashkenazi Jewish descent. The mutations appear to be more prevalent in the African American population as well. These mutations can account for about 5 to10 percent of all breast cancer diagnoses. These genes are passed from generation to generation and are not gender-specific: both men and women can be carriers of these gene mutations. Carriers of these mutations may not always get cancer (especially men), but this does not mean that the mutation skips a generation. In addition to breast and ovarian cancer, BRCA-associated cancers include melanoma, pancreatic cancer, and prostate cancer.

Q. Why does this decision benefit researchers? 

Dr. Langer: One anticipated effect of the Supreme Court decision is that scientists will be able to increase the speed of understanding changes in the BRCA genes called “Variants of Uncertain Significance,” or VUS. Myriad has by far the most extensive experience with variants, and they have not shared this database. Now that other labs will be testing BRCA1/2, researchers can collaborate and more quickly advance the understanding of these variants.

Q: Who should be evaluated for a BRCA gene mutation?
Dr. Langer: The NCCN guidelines outline who should be evaluated for a BRCA mutation. This includes anyone with:

  • triple-negative breast cancer diagnosed under the age of 60;
  • breast cancer under the age of 45;
  • a history of bilateral breast cancer or more than one breast cancer diagnosis;
  • ovarian cancer;
  • any breast cancer patient who has close relatives diagnosed with BRCA-associated cancers; and
  • women of Ashkenazi Jewish heritage who have breast or ovarian cancer.

Individuals who have not had cancer but who come from families with BRCA-associated cancers should also consider testing. These guidelines can be found at www.nccn.org.

Q. Who should conduct the testing?
Dr. Langer: Genetic testing should be performed by an individual with expertise in cancer genetics. Genetic risk evaluation requires a careful examination of the family history and personal history, and it is important to receive the right counseling so that you understand the rationale for the test, the possible test outcomes, and the potential ramifications for your healthcare decisions.

Dr. Lucy Langer, board certified medical oncologist and breast cancer specialist with Compass Oncology, is the National Medical Director of Cancer Genetics for The U.S. Oncology Network and Director of the Compass Oncology Genetic Risk Evaluation & Testing (GREAT) program. She has more than 15 years experience in genetic research at some of the nation’s leading institutions in addition to advanced subspecialty expertise in breast cancer and lung cancer.

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