Studies suggest that patients carrying a BRCA variant of uncertain significance (VUS) may
have lingering confusion concerning results interpretation. Counseling for uninformative …

Background: Many unclassified variants (UV) of BRCA1 or BRCA2 may have an effect on
pre-mRNA splicing. Patient blood samples suitable for RNA extraction are not always …

Introduction Next-generation sequencing (NGS) is transforming the conduct of genetic
research and diagnostic investigation. This creates new challenges as it generates …

Classification of rare missense substitutions observed during genetic testing for patient
management is a considerable problem in clinical genetics. The Bayesian integrated …

Sequence variants that may result in splicing alterations are a particular class of inherited
variants for which consequences can be more readily assessed, using a combination of …

Background In germline genetic testing, variants from understudied ancestries have been
disproportionately classified as being of uncertain significance. We hypothesized that the …

Opportunities for genetic counseling and germline BRCA1/2 (BRCA) testing are increasing
in Japan owing to cancer genomic profiling testing and companion diagnostics being …

Background Women with germline BRCA1 or BRCA2 (BRCA1/BRCA2) mutations are at
very high risk of developing breast cancer, including asynchronous contralateral breast …

The assessment of the influence of many rare BRCA2 missense mutations on cancer risk
has proved difficult. A multifactorial likelihood model that predicts the odds of cancer …

Inherited mutations in the BRCA1 and BRCA2 genes are the strongest genetic predictors of
breast cancer and are the primary causes of familial breast/ovarian cancer syndrome. The …