Clinical and laboratory genetic counselor attitudes on the reporting of variants of uncertain significance for multigene cancer panels.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1680
Abstract: Research suggests variants of uncertain significance (VUSs) present a variety of challenges for genetic counselors (GCs), nongenetics clinicians, and patients. Multigene cancer panels reveal more VUSs than single gene testing as a result of the… read more here.
Keywords: clinical cancer; vuss; gcs; laboratory gcs ... See more keywords
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation
Sign Up to like & getrecommendations! Published in 2021 at "American Journal of Human Genetics"
DOI: 10.1016/j.ajhg.2021.03.006
Abstract: Summary The complexities of gene expression pose challenges for the clinical interpretation of splicing variants. To better understand splicing variants and their contribution to hereditary disease, we evaluated their prevalence, clinical classifications, and associations with… read more here.
Keywords: splicing variants; clinical interpretation; rna analysis; vuss ... See more keywords
Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance
Sign Up to like & getrecommendations! Published in 2022 at "eLife"
DOI: 10.7554/elife.71137
Abstract: Pathogenic germline CDKN2A variants are associated with an increased risk of pancreatic ductal adenocarcinoma (PDAC). CDKN2A variants of uncertain significance (VUSs) are reported in up to 4.3% of patients with PDAC and result in significant… read more here.
Keywords: vuss; cdkn2a vuss; functionally deleterious; variants uncertain ... See more keywords