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A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes 

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Presentation on theme: "A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes "— Presentation transcript:

1 A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes  Douglas F. Easton, Amie M. Deffenbaugh, Dmitry Pruss, Cynthia Frye, Richard J. Wenstrup, Kristina Allen-Brady, Sean V. Tavtigian, Alvaro N.A. Monteiro, Edwin S. Iversen, Fergus J. Couch, David E. Goldgar  The American Journal of Human Genetics  Volume 81, Issue 5, Pages (November 2007) DOI: /521032 Copyright © 2007 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Frequency histogram of combined LLR for 1,433 sequence VUSs, by gene (BRCA1 or BRCA2). The American Journal of Human Genetics  , DOI: ( /521032) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Frequency histogram of combined LLR for 1,177 MVs and IFDIs, by location within either DNA-binding domain (DBD) of BRCA2, or BRCT domain of BRCA1. For definitions of domains, see the text. Yes = within DBD/BRCT; no = located outside these domains. The American Journal of Human Genetics  , DOI: ( /521032) Copyright © 2007 The American Society of Human Genetics Terms and Conditions


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