Article
Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay.
Breast cancer research : BCR - 11 May 2020
Sirisena Nirmala, Biswas Kajal, Sullivan Teresa, Stauffer Stacey, Cleveland Linda, Southon Eileen, Dissanayake Vajira H W, Sharan Shyam K
Abstract excerpt
Next-generation sequencing of Sri Lankan families with inherited cancer syndromes resulted in the identification of five BRCA2 variants of unknown clinical significance. Interpreting such variants poses significant challenges for both clinicians and patients. Using a mouse embryonic stem cell-based functional assay, we found I785V, N830D, and K2077N to be functionally indistinguishable from wild-type BRCA2....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.