Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals.

By T. S. Frank, A. Deffenbaugh, J. Reid, M. Hulick, B. Ward, B. Lingenfelter, K. Gumpper, T. Scholl, Sean V. Tavtigian, D. Pruss and 1 more. Journal of Clinical Oncology, 2002

909 citations recorded by the source corpus.

Subfields: Genetics, Oncology, Pathology and Forensic Medicine

View Paper: https://www.semanticscholar.org/paper/8b47e5c89c87e58eb8ee5d1f9299eb49b8c157db

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1. G. Millot
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Citations in the corpus

• Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results (2008, methodology): “Similarly, analysis of the Myriad Genetics Laboratory data revealed that a physician who orders BRCA1 and BRCA2 testing has a similar likelihood of receiving a variant result (13%) as one with a pathogenic mutation [Frank et al., 2002].”
• A Guide for Functional Analysis of BRCA1 Variants of Uncertain Significance (VUS) (2012, background): “It has previously been estimated that ∼10% of Caucasians undergoing testing receive a VUS report [Frank et al., 2002], with a much higher proportion in Hispanics and African Americans [Kurian, 2010; Nanda et al.”