Ontology highlight
ABSTRACT:
SUBMITTER: Sirisena N
PROVIDER: S-EPMC7216543 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Sirisena Nirmala N Biswas Kajal K Sullivan Teresa T Stauffer Stacey S Cleveland Linda L Southon Eileen E Dissanayake Vajira H W VHW Sharan Shyam K SK
Breast cancer research : BCR 20200511 1
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. Specific but mild sensitivity to olaparib and reduction in homologous recombination (HR) ...[more]