domingo, 6 de abril de 2014

Two Decades After BRCA: Setting Paradigms in Personalized Cancer Care and Prevention

Two Decades After BRCA: Setting Paradigms in Personalized Cancer Care and Prevention

Vol. 343 no. 6178 pp. 1466-1470 
DOI: 10.1126/science.1251827

Two Decades After BRCA: Setting Paradigms in Personalized Cancer Care and Prevention

  1. Kenneth Offit3
+Author Affiliations
  1. 1Division of Experimental Pathology and Laboratory Medicine, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
  2. 2Division of Translational Medicine and Human Genetics, Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
  3. 3Clinical Genetics Service, Department of Medicine, Cancer Biology and Genetics Program, Sloan-Kettering Institute, Memorial Sloan-Kettering Cancer Center; Departments of Medicine and Public Health, Weill Cornell Medical College, New York, NY 10065, USA.
  1. *Corresponding author. E-mail:
The cloning of the breast cancer susceptibility genes BRCA1 and BRCA2 nearly two decades ago helped set in motion an avalanche of research exploring how genomic information can be optimally applied to identify and clinically care for individuals with a high risk of developing cancer. Genetic testing for mutations in BRCA1,BRCA2, and other breast cancer susceptibility genes has since proved to be a valuable tool for determining eligibility for enhanced screening and prevention strategies, as well as for identifying patients most likely to benefit from a targeted therapy. Here, we discuss the landscape of inherited mutations and sequence variants in BRCA1 and BRCA2, the complexities of determining disease risk when the pathogenicity of sequence variants is uncertain, and current strategies for clinical management of women who carry BRCA1/2mutations.


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