Journal article

Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information

A Osorio, RL Milne, E Honrado, A Barroso, O Diez, R Salazar, M de la Floya, A Vega, J Benitez

Human Mutation | WILEY-LISS | Published : 2007


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 most circumstances. A likelihood-based model has been developed, integrating most of the data currently used to classify these variants. We have adapted the original model, including only that information that could be more easily obtained from a cancer genetics laboratory, such as los..

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