FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3217781736> ?p ?o ?g. }

• W3217781736 endingPage "104400" @default.
• W3217781736 startingPage "104400" @default.
• W3217781736 abstract "One of the main factors influencing the clinical utility of genetic tests for cancer predisposition is the ability to provide actionable classifications (ie pathogenic or benign). However, a large fraction of the variants identified in cancer predisposing genes (CPGs) are of uncertain significance (VUS), and cannot be used for clinical purposes either to identify individuals at risk or to drive treatment. Here we analyze the current status of VUS identification in a subset of 24 CPGs included by the American College of Medical Genetics/Association for Molecular Pathology in the list of genes that should be considered for the return of incidental findings. To this purpose we retrieved published literature using different search strings according to the frequency of the condition and we extracted corresponding data from ClinVar. The total number of VUS has not decreased with time, due to widespread multigene panel testing, and the relative yield of VUS compared to pathogenic variants is higher in more recent studies, which tend to involve series not selected for the presence of specific high risk criteria. In addition, only few studies adopt gene specific interpretation criteria when these are available. Despite the large yield of VUS associated with multigene testing, the data obtained from such studies can be very useful for variant classification, especially for those variants that are more likely to be benign, since these are expected to be detected more frequently in a population that does not show gene specific manifestations. In addition, wider use of gene specific interpretation criteria should be promoted in order to optimize the interpretation process." @default.
• W3217781736 created "2021-12-06" @default.
• W3217781736 creator A5012681446 @default.
• W3217781736 creator A5020769869 @default.
• W3217781736 creator A5036172060 @default.
• W3217781736 creator A5056934429 @default.
• W3217781736 creator A5064135168 @default.
• W3217781736 creator A5064280544 @default.
• W3217781736 creator A5081203668 @default.
• W3217781736 date "2022-01-01" @default.
• W3217781736 modified "2023-10-15" @default.
• W3217781736 title "Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?" @default.
• W3217781736 cites W2008210209 @default.
• W3217781736 cites W2009634860 @default.
• W3217781736 cites W2011094690 @default.
• W3217781736 cites W2011830133 @default.
• W3217781736 cites W2037117416 @default.
• W3217781736 cites W2051978340 @default.
• W3217781736 cites W2084985708 @default.
• W3217781736 cites W2093022647 @default.
• W3217781736 cites W2109378245 @default.
• W3217781736 cites W2527255307 @default.
• W3217781736 cites W2627871710 @default.
• W3217781736 cites W2792027007 @default.
• W3217781736 cites W2804660356 @default.
• W3217781736 cites W2896403068 @default.
• W3217781736 cites W2897315653 @default.
• W3217781736 cites W2905840501 @default.
• W3217781736 cites W2944695242 @default.
• W3217781736 cites W2987318433 @default.
• W3217781736 cites W3015141169 @default.
• W3217781736 cites W3111162271 @default.
• W3217781736 cites W3119024243 @default.
• W3217781736 cites W3161833585 @default.
• W3217781736 cites W3203159454 @default.
• W3217781736 doi "https://doi.org/10.1016/j.ejmg.2021.104400" @default.
• W3217781736 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34813939" @default.
• W3217781736 hasPublicationYear "2022" @default.
• W3217781736 type Work @default.
• W3217781736 sameAs 3217781736 @default.
• W3217781736 citedByCount "4" @default.
• W3217781736 countsByYear W32177817362023 @default.
• W3217781736 crossrefType "journal-article" @default.
• W3217781736 hasAuthorship W3217781736A5012681446 @default.
• W3217781736 hasAuthorship W3217781736A5020769869 @default.
• W3217781736 hasAuthorship W3217781736A5036172060 @default.
• W3217781736 hasAuthorship W3217781736A5056934429 @default.
• W3217781736 hasAuthorship W3217781736A5064135168 @default.
• W3217781736 hasAuthorship W3217781736A5064280544 @default.
• W3217781736 hasAuthorship W3217781736A5081203668 @default.
• W3217781736 hasConcept C104317684 @default.
• W3217781736 hasConcept C121608353 @default.
• W3217781736 hasConcept C126322002 @default.
• W3217781736 hasConcept C2780673598 @default.
• W3217781736 hasConcept C2908647359 @default.
• W3217781736 hasConcept C47042493 @default.
• W3217781736 hasConcept C54355233 @default.
• W3217781736 hasConcept C60644358 @default.
• W3217781736 hasConcept C63363279 @default.
• W3217781736 hasConcept C64474127 @default.
• W3217781736 hasConcept C70721500 @default.
• W3217781736 hasConcept C71924100 @default.
• W3217781736 hasConcept C80227256 @default.
• W3217781736 hasConcept C86803240 @default.
• W3217781736 hasConcept C99454951 @default.
• W3217781736 hasConceptScore W3217781736C104317684 @default.
• W3217781736 hasConceptScore W3217781736C121608353 @default.
• W3217781736 hasConceptScore W3217781736C126322002 @default.
• W3217781736 hasConceptScore W3217781736C2780673598 @default.
• W3217781736 hasConceptScore W3217781736C2908647359 @default.
• W3217781736 hasConceptScore W3217781736C47042493 @default.
• W3217781736 hasConceptScore W3217781736C54355233 @default.
• W3217781736 hasConceptScore W3217781736C60644358 @default.
• W3217781736 hasConceptScore W3217781736C63363279 @default.
• W3217781736 hasConceptScore W3217781736C64474127 @default.
• W3217781736 hasConceptScore W3217781736C70721500 @default.
• W3217781736 hasConceptScore W3217781736C71924100 @default.
• W3217781736 hasConceptScore W3217781736C80227256 @default.
• W3217781736 hasConceptScore W3217781736C86803240 @default.
• W3217781736 hasConceptScore W3217781736C99454951 @default.
• W3217781736 hasIssue "1" @default.
• W3217781736 hasLocation W32177817361 @default.
• W3217781736 hasLocation W32177817362 @default.
• W3217781736 hasOpenAccess W3217781736 @default.
• W3217781736 hasPrimaryLocation W32177817361 @default.
• W3217781736 hasRelatedWork W1142878356 @default.
• W3217781736 hasRelatedWork W1971517184 @default.
• W3217781736 hasRelatedWork W2059304053 @default.
• W3217781736 hasRelatedWork W2066757266 @default.
• W3217781736 hasRelatedWork W2085393706 @default.
• W3217781736 hasRelatedWork W2149053319 @default.
• W3217781736 hasRelatedWork W27329658 @default.
• W3217781736 hasRelatedWork W4205864087 @default.
• W3217781736 hasRelatedWork W4308834849 @default.
• W3217781736 hasRelatedWork W4313236382 @default.
• W3217781736 hasVolume "65" @default.
• W3217781736 isParatext "false" @default.
• W3217781736 isRetracted "false" @default.

• next