Background Clinical classification of rare sequence changes identified in the breast cancer
susceptibility genes BRCA1 and BRCA2 is essential for appropriate genetic counselling of …

After two decades of genetic testing and research, the BRCA1 and BRCA2 genes are two of
the most well-characterized genes in the human genome. As a result, variants of uncertain …

The American College of Medical Genetics and Genomics (ACMG) recommends that clinical
sequencing laboratories return secondary findings in 56 genes associated with medically …

Variants of uncertain significance (VUS) are a well‐recognized source of uncertainty in
genomic medicine. Despite the existence of straightforward clinical management …

Somatic rearrangements contribute to the mutagenized landscape of cancer genomes.
Here, we systematically interrogated rearrangements in 560 breast cancers by using a …

Abstract Variants of Uncertain Significance (VUS) are genetic variants whose association
with a disease phenotype has not been established. They are a common finding in …

Numerous nontruncating missense variants of the BRCA2 gene have been identified, but
there is a lack of convincing evidence, such as familial data, demonstrating their clinical …

Introduction. DNA variants of uncertain significance (VUS) are common outcomes of clinical
genetic testing for susceptibility to cancer. A statistically rigorous model that provides a …

Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance
(VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and …

Abstract Purpose: Most BRCA1/2 mutations are of unknown clinical relevance. An
increasing amount of evidence indicates that there can be deleterious effects through the …