Article
Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information.
Human mutation - 1 May 2007
Osorio A, Milne R L, Honrado E, Barroso A, Diez O, Salazar R, de la Hoya M, Vega A, Benítez J
Abstract excerpt
Classification of rare missense variants in disease susceptibility genes as neutral or disease-causing is important for genetic counseling. Different criteria are used to help classify such variants in BRCA1 and BRCA2; however, the strongest evidence tends to come from segregation analysis and observed cooccurrence with known pathogenic mutations, which both require information that is not readily available in...
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