FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2890144682> ?p ?o ?g. }

• W2890144682 endingPage "144" @default.
• W2890144682 startingPage "138" @default.
• W2890144682 abstract "Gene-panels are used to assess predisposition to breast cancer by simultaneous testing of multiple susceptibility genes. This approach increases the identification of variants of unknown significance (VUS) that cannot be used in clinical decision-making. We performed a systematic review of published studies to calculate the prevalence of VUS and pathogenic variants (PV) in routinely tested breast cancer susceptibility genes in patients at high risk of breast cancer. We comprehensively searched the literature using Medline through May 23, 2017 for studies conducting gene-panel testing on germline DNA of women with familial breast cancer and reporting on both PVs and VUSs. A meta-analysis of the collected data was carried out to obtain pooled VUS and PV prevalence estimates per gene using a generalized linear mixed model with logit link for binomial distribution. Of 602 publications, 4 were eligible and included 1870 patients. The panels encompassed 4–27 considered genes. Overall, the estimated probability per gene of a PV and VUS was 55% (95% confidence interval (CI) 26%–81%) and 91% (95% CI 78%–97%), respectively (p = 0.0066). The estimated probability per patient of a PV and VUS was 8% (95% CI 1%–34%) and 23% (95% CI 7%–52%), respectively (p = 0.0052). The ratio of VUS to PV was highest in the mismatch repair genes MLH1, MSH2, MSH6, PMS2 (18.7), CDH1 (13.4) and ATM (9.5). Amongst the 1468 patients tested for BRCA1 and BRCA2, only these two genes had a VUS to PV ratio of less than one (0.2 and 0.6, respectively). With the current panels, the probability of detecting a VUS is significantly higher than the probability of detecting a PV. Better classification of VUSs is therefore critical and requires gene-specific VUS-assessment in every future study of gene-panel testing in patients at high risk of breast cancer." @default.
• W2890144682 created "2018-09-27" @default.
• W2890144682 creator A5031325232 @default.
• W2890144682 creator A5060643613 @default.
• W2890144682 creator A5083493206 @default.
• W2890144682 creator A5091880870 @default.
• W2890144682 date "2018-12-01" @default.
• W2890144682 modified "2023-10-13" @default.
• W2890144682 title "Prevalence of pathogenic variants and variants of unknown significance in patients at high risk of breast cancer: A systematic review and meta-analysis of gene-panel data" @default.
• W2890144682 cites W1545501013 @default.
• W2890144682 cites W1871202334 @default.
• W2890144682 cites W2093274439 @default.
• W2890144682 cites W2095787833 @default.
• W2890144682 cites W2106542343 @default.
• W2890144682 cites W2114026834 @default.
• W2890144682 cites W2114488753 @default.
• W2890144682 cites W2119605658 @default.
• W2890144682 cites W2169205464 @default.
• W2890144682 cites W2194014097 @default.
• W2890144682 cites W2282435866 @default.
• W2890144682 cites W2298876126 @default.
• W2890144682 cites W2346043562 @default.
• W2890144682 cites W2400927555 @default.
• W2890144682 cites W2508673657 @default.
• W2890144682 cites W2518728331 @default.
• W2890144682 cites W2536777558 @default.
• W2890144682 doi "https://doi.org/10.1016/j.critrevonc.2018.09.009" @default.
• W2890144682 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30447919" @default.
• W2890144682 hasPublicationYear "2018" @default.
• W2890144682 type Work @default.
• W2890144682 sameAs 2890144682 @default.
• W2890144682 citedByCount "24" @default.
• W2890144682 countsByYear W28901446822019 @default.
• W2890144682 countsByYear W28901446822020 @default.
• W2890144682 countsByYear W28901446822021 @default.
• W2890144682 countsByYear W28901446822022 @default.
• W2890144682 countsByYear W28901446822023 @default.
• W2890144682 crossrefType "journal-article" @default.
• W2890144682 hasAuthorship W2890144682A5031325232 @default.
• W2890144682 hasAuthorship W2890144682A5060643613 @default.
• W2890144682 hasAuthorship W2890144682A5083493206 @default.
• W2890144682 hasAuthorship W2890144682A5091880870 @default.
• W2890144682 hasConcept C104317684 @default.
• W2890144682 hasConcept C111425858 @default.
• W2890144682 hasConcept C121608353 @default.
• W2890144682 hasConcept C126322002 @default.
• W2890144682 hasConcept C13514818 @default.
• W2890144682 hasConcept C143998085 @default.
• W2890144682 hasConcept C156957248 @default.
• W2890144682 hasConcept C2776071976 @default.
• W2890144682 hasConcept C2776674815 @default.
• W2890144682 hasConcept C2778144015 @default.
• W2890144682 hasConcept C2778677574 @default.
• W2890144682 hasConcept C2779115348 @default.
• W2890144682 hasConcept C44249647 @default.
• W2890144682 hasConcept C501734568 @default.
• W2890144682 hasConcept C526805850 @default.
• W2890144682 hasConcept C530470458 @default.
• W2890144682 hasConcept C54355233 @default.
• W2890144682 hasConcept C60748783 @default.
• W2890144682 hasConcept C71924100 @default.
• W2890144682 hasConcept C86803240 @default.
• W2890144682 hasConcept C95190672 @default.
• W2890144682 hasConceptScore W2890144682C104317684 @default.
• W2890144682 hasConceptScore W2890144682C111425858 @default.
• W2890144682 hasConceptScore W2890144682C121608353 @default.
• W2890144682 hasConceptScore W2890144682C126322002 @default.
• W2890144682 hasConceptScore W2890144682C13514818 @default.
• W2890144682 hasConceptScore W2890144682C143998085 @default.
• W2890144682 hasConceptScore W2890144682C156957248 @default.
• W2890144682 hasConceptScore W2890144682C2776071976 @default.
• W2890144682 hasConceptScore W2890144682C2776674815 @default.
• W2890144682 hasConceptScore W2890144682C2778144015 @default.
• W2890144682 hasConceptScore W2890144682C2778677574 @default.
• W2890144682 hasConceptScore W2890144682C2779115348 @default.
• W2890144682 hasConceptScore W2890144682C44249647 @default.
• W2890144682 hasConceptScore W2890144682C501734568 @default.
• W2890144682 hasConceptScore W2890144682C526805850 @default.
• W2890144682 hasConceptScore W2890144682C530470458 @default.
• W2890144682 hasConceptScore W2890144682C54355233 @default.
• W2890144682 hasConceptScore W2890144682C60748783 @default.
• W2890144682 hasConceptScore W2890144682C71924100 @default.
• W2890144682 hasConceptScore W2890144682C86803240 @default.
• W2890144682 hasConceptScore W2890144682C95190672 @default.
• W2890144682 hasFunder F4320326798 @default.
• W2890144682 hasFunder F4320328144 @default.
• W2890144682 hasLocation W28901446821 @default.
• W2890144682 hasLocation W28901446822 @default.
• W2890144682 hasOpenAccess W2890144682 @default.
• W2890144682 hasPrimaryLocation W28901446821 @default.
• W2890144682 hasRelatedWork W2000569716 @default.
• W2890144682 hasRelatedWork W2044193368 @default.
• W2890144682 hasRelatedWork W2907016877 @default.
• W2890144682 hasRelatedWork W2922047111 @default.
• W2890144682 hasRelatedWork W2979640933 @default.
• W2890144682 hasRelatedWork W3004361286 @default.
• W2890144682 hasRelatedWork W3013246898 @default.
• W2890144682 hasRelatedWork W3120046654 @default.

• next