Article
Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.
Cancer research - 15 Feb 2006
Chenevix-Trench Georgia, Healey Sue, Lakhani Sunil, Waring Paul, Cummings Margaret, Brinkworth Ross, Deffenbaugh Amie M, Burbidge Lynn Anne, Pruss Dmitry, Judkins Thad, Scholl Tom, Bekessy Anna, Marsh Anna, Lovelock Paul, Wong Ming, Tesoriero Andrea, Renard Helene, Southey Melissa, Hopper John L, Yannoukakos Koulis, Brown Melissa, Easton Douglas, Tavtigian Sean V, Goldgar David, Spurdle Amanda B
Abstract excerpt
Classification of rare missense variants as neutral or disease causing is a challenge and has important implications for genetic counseling. A multifactorial likelihood model for classification of unclassified variants in BRCA1 and BRCA2 has previously been developed, which uses data on co-occurrence of the unclassified variant with pathogenic mutations in the same gene, cosegregation of the unclassified variant...
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