Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

ABSTRACT:

Background

Missense (amino-acid changing) variants found in cancer predisposition genes often create difficulties when clinically interpreting genetic testing results. Although bioinformatics has developed approaches to predicting the impact of these variants, many of these approaches have not been readily applicable in the clinical setting. Bioinformatics approaches for predicting the impact of these variants have not yet found their footing in clinical practice because 1) interpreting the medical relevance of predictive scores is difficult; 2) the relationship between bioinformatics "predictors" (sequence conservation, protein structure) and cancer susceptibility is not understood.

Methodology/principal findings

We present a computational method that produces a probabilist

SUBMITTER: Karchin R 

PROVIDER: S-EPMC2587343 | biostudies-literature | 2008

REPOSITORIES: biostudies-literature