Gene-panel sequencing and the prediction of breast-cancer risk.

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Easton, Douglas F 
Pharoah, Paul DP 
Antoniou, Antonis C 
Tavtigian, Sean V 

Advances in sequencing technology have made multigene testing, or “panel testing,” a practical option when looking for genetic variants that may be associated with a risk of breast cancer. In June 2013, the U.S. Supreme Court invalidated specific claims made by Myriad Genetics with respect to the patenting of the genomic DNA sequence of BRCA1 and BRCA2. Other companies immediately began to offer panel tests for breast cancer genes that included BRCA1 and BRCA2. The subsequent flourishing of gene-panel testing services has generated much interest both within the clinical genetics community and in the popular press. These panels cover a total of more than 100 genes, and breast cancer is specifically mentioned as an indication for 21 of these genes. However, the fact that the technology is available does not necessarily mean that such tests are appropriate or desirable.

Breast Neoplasms, Centers for Disease Control and Prevention, U.S., Female, Genes, BRCA1, Genes, BRCA2, Genetic Predisposition to Disease, Genetic Testing, Genetic Variation, Genotyping Techniques, Guidelines as Topic, Heterozygote, Humans, Risk, Sequence Analysis, DNA, United States
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N Engl J Med
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Massachusetts Medical Society
Cancer Research Uk (None)
Cancer Research Uk (None)
Cancer Research Uk (None)
Supported by grants from Cancer Research UK (A11174, to Dr. Antoniou), the National Institutes of Health (CA116167, CA176785, and CA192393, to Dr. Couch), the Breast Cancer Research Foundation (to Drs. Couch, Nathanson, and Robson), Susan G. Komen (to Drs. Foulkes, Chenevix-Trench, and Domchek), the Cancer Research Society–Quebec Breast Cancer Foundation (to Dr. Foulkes), the National Health and Medical Research Council (to Dr. Chenevix-Trench), and the Basser Research Center (to Dr. Domchek).