Article
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.
Journal of medical genetics - 1 Jul 2004
Abkevich V, Zharkikh A, Deffenbaugh A M, Frank D, Chen Y, Shattuck D, Skolnick M H, Gutin A, Tavtigian S V
Abstract excerpt
INTRODUCTION: Interpretation of results from mutation screening of tumour suppressor genes known to harbour high risk susceptibility mutations, such as APC, BRCA1, BRCA2, MLH1, MSH2, TP53, and PTEN, is becoming an increasingly important part of clinical practice. Interpretation of truncating mutations, gene rearrangements, and obvious splice junction mutations, is generally straightforward. However,...
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