Article
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
Cancer discovery - 1 Oct 2013
Bouwman Peter, van der Gulden Hanneke, van der Heijden Ingrid, Drost Rinske, Klijn Christiaan N, Prasetyanti Pramudita, Pieterse Mark, Wientjens Ellen, Seibler Jost, Hogervorst Frans B L, Jonkers Jos
Abstract excerpt
UNLABELLED: Mutations in BRCA1 and BRCA2 account for the majority of hereditary breast and ovarian cancers, and therefore sequence analysis of both genes is routinely conducted in patients with early-onset breast cancer. Besides mutations that clearly abolish protein function or are known to increase cancer risk, a large number of sequence variants of uncertain significance (VUS) have been identified. Although...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.