BRCA1 Circos: a visualisation resource for functional analysis of missense variants

Carriers of germline pathogenic variants in BRCA1 have a significantly increased risk of breast and ovarian cancers. However, genetic testing may also uncover a variant of unknown significance (VUS). Due to the rarity of these variants clinical and family data are usually lacking to determine cancer risk association. Functional assays can be used to assess the impact of these VUS on the function of protein. We have developed a web-based visualization tool to depict all published functional data on missense VUS in BRCA1. This tool provides a comprehensive publically-available resource to aid in the assessment of BRCA1 VUS. (By Dr. Alvaro N. Monteiro, http://jmg.bmj.com/content/early/2015/02/02/jmedgenet-2014-102766 )

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