Characterization of BRCA1 and BRCA2 mutations in a large United States sample.

  title={Characterization of BRCA1 and BRCA2 mutations in a large United States sample.},
  author={Sining Chen and Edwin S. Iversen and Tara M. Friebel and Dianne M. Finkelstein and Barbara L. Weber and Andrea Eisen and Leif E. Peterson and Joellen Martha Schildkraut and Claudine Isaacs and Beth N. Peshkin and Camille Corio and Leoni Leondaridis and Gail Tomlinson and Debra Dutson and Rich A Kerber and Christopher I. Amos and Louise C. Strong and Donald A. Berry and David Michael Euhus and Giovanni Parmigiani},
  journal={Journal of clinical oncology : official journal of the American Society of Clinical Oncology},
  volume={24 6},
PURPOSE An accurate evaluation of the penetrance of BRCA1 and BRCA2 mutations is essential to the identification and clinical management of families at high risk of breast and ovarian cancer. Existing studies have focused on Ashkenazi Jews (AJ) or on families from outside the United States. In this article, we consider the US population using the largest US-based cohort to date of both AJ and non-AJ families. METHODS We collected 676 AJ families and 1,272 families of other ethnicities through… CONTINUE READING