Variants of uncertain significance (VUS) fundamentally limit the utility of genetic 1
information in a clinical setting. The challenge of VUS is epitomized by BRCA1, a tumor 2 …

Germline BRCA2 loss-of function (LOF) variants identified by clinical genetic testing
predispose to breast, ovarian, prostate and pancreatic cancer. However, variants of …

Accurate interpretation of genetic variation is a critical step towards realizing the potential of
precision medicine. Sequencing-based genetic tests have uncovered a vast array of BRCA2 …

The unknown pathogenicity of a significant number of variants found in cancer-related
genes is attributed to limited epidemiological data, resulting in their classification as variant …

Variants of uncertain significance fundamentally limit the clinical utility of genetic information.
The challenge they pose is epitomized by BRCA1, a tumour suppressor gene in which …

Purpose BRCA1 pathogenic variant heterozygotes are at a substantially increased risk for
breast and ovarian cancer. The widespread uptake of testing has led to a significant …

Characterizing the pathogenicity of BRCA1 variants of uncertain significance (VUSs) is a
major bottleneck in clinical management of BRCA1-associated breast cancer. Saturation …

10511 Background: Germline BRCA2 loss-of function (LOF) variants identified by clinical
genetic testing predispose to breast, ovarian, prostate and pancreatic cancer. However …

Pathological mutations in homology-directed repair (HDR) genes impact both future cancer
risk and therapeutic options for patients. HDR is a high-fidelity DNA repair pathway for …

Accurate interpretation of human genetic data is critical for optimizing outcomes in the era of
genomic medicine. Powerful methods for testing genetic variants for functional effects are …