FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4379285612> ?p ?o ?g. }

• W4379285612 endingPage "e13524" @default.
• W4379285612 startingPage "e13524" @default.
• W4379285612 abstract "e13524 Background: Lynch Syndrome (LS), the most common form of hereditary colorectal cancer (CRC), is due to germline pathogenic variant (PV) in mismatch repair genes (MMR). Since 2009, the National Comprehensive Cancer Network (NCCN) recommends MMR screening for LS for all CRCs regardless of age. The American College of Medical Genetics and Genomics recommends patients with MMR deficiency or microsatellite instability (MSI) be referred for genetic testing. Despite these recommendations, compliance is low. The aim of this study was to evaluate compliance with LS screening and genetic testing in CRC. Methods: A single institution retrospective review of patients diagnosed with CRC from 2018-2021 was performed. A chart review of those diagnosed in 2018 and 2021 was analyzed and combined as a single population from pre and post COVID periods. A student’s T-Test was used to compare continuous variables and chi square for categorical variables within the two populations. The compliance with either MSI or MMR screening was calculated. Meeting criteria for genetic testing was defined as age less than 50, MSI-L/H or MMR deficient. These patients were then analyzed to determine the proportion of genetic referrals, genetic counseling, genetic testing and identification of LS. Results: 276 patients with CRC were reviewed, 153 in 2018, 123 in 2021. 71.2% were Caucasian and 58% male. There was no statistically significant difference in gender, race or ethnicity, however, there was a difference in age, with a younger average age in 2021 (67, 63; p = 0.014). 146 (53%) patients were screened for LS. 44 (16%) with MSI, 19 (7%) MMR and 82 (30%) with both. 78 patients met criteria for genetic testing; 47 due to age alone, 6 age and positive LS screening and 25 screening alone. 35% (27/78) of those meeting criteria were referred to genetics, of which 63% (17/27) completed their appointment, 63% (17/27) were tested, and 37% (10/27) had a PV identified. Conclusions: Despite guidelines for LS screening, compliance is low with only half of CRC patients appropriately screened at our institution. Even patients with positive screening and those less than 50 were not referred for genetic testing. However, of referred patients, 63% completed their appointment and all those were tested. This supports the idea that poor compliance with genetic testing is not due to patient compliance, but shows a systems issue at a higher level. To improve LS identification, reflex screening and genetic referrals are paramount. In our study, 59% of patients with germline testing had a PV, however 65% of those meeting criteria were never referred, which could reflect a proportion of patients with LS going unidentified. This validates the 2022 NCCN guidelines recommending genetic testing for all CRCs despite age or MSI/MMR status. By removing the barrier of MMR testing, more genetic testing will likely be done. [Table: see text]" @default.
• W4379285612 created "2023-06-05" @default.
• W4379285612 creator A5011062236 @default.
• W4379285612 creator A5024174425 @default.
• W4379285612 creator A5025382374 @default.
• W4379285612 creator A5055106257 @default.
• W4379285612 creator A5075080751 @default.
• W4379285612 creator A5077994172 @default.
• W4379285612 creator A5092084574 @default.
• W4379285612 date "2023-06-01" @default.
• W4379285612 modified "2023-09-27" @default.
• W4379285612 title "Barriers in the identification and diagnosis of hereditary colon cancer." @default.
• W4379285612 doi "https://doi.org/10.1200/jco.2023.41.16_suppl.e13524" @default.
• W4379285612 hasPublicationYear "2023" @default.
• W4379285612 type Work @default.
• W4379285612 citedByCount "0" @default.
• W4379285612 crossrefType "journal-article" @default.
• W4379285612 hasAuthorship W4379285612A5011062236 @default.
• W4379285612 hasAuthorship W4379285612A5024174425 @default.
• W4379285612 hasAuthorship W4379285612A5025382374 @default.
• W4379285612 hasAuthorship W4379285612A5055106257 @default.
• W4379285612 hasAuthorship W4379285612A5075080751 @default.
• W4379285612 hasAuthorship W4379285612A5077994172 @default.
• W4379285612 hasAuthorship W4379285612A5092084574 @default.
• W4379285612 hasConcept C104317684 @default.
• W4379285612 hasConcept C121608353 @default.
• W4379285612 hasConcept C126322002 @default.
• W4379285612 hasConcept C143998085 @default.
• W4379285612 hasConcept C180754005 @default.
• W4379285612 hasConcept C2776559941 @default.
• W4379285612 hasConcept C2779767149 @default.
• W4379285612 hasConcept C2780673598 @default.
• W4379285612 hasConcept C2908647359 @default.
• W4379285612 hasConcept C29456083 @default.
• W4379285612 hasConcept C526805850 @default.
• W4379285612 hasConcept C54355233 @default.
• W4379285612 hasConcept C60748783 @default.
• W4379285612 hasConcept C61320498 @default.
• W4379285612 hasConcept C71924100 @default.
• W4379285612 hasConcept C80227256 @default.
• W4379285612 hasConcept C86803240 @default.
• W4379285612 hasConcept C99454951 @default.
• W4379285612 hasConceptScore W4379285612C104317684 @default.
• W4379285612 hasConceptScore W4379285612C121608353 @default.
• W4379285612 hasConceptScore W4379285612C126322002 @default.
• W4379285612 hasConceptScore W4379285612C143998085 @default.
• W4379285612 hasConceptScore W4379285612C180754005 @default.
• W4379285612 hasConceptScore W4379285612C2776559941 @default.
• W4379285612 hasConceptScore W4379285612C2779767149 @default.
• W4379285612 hasConceptScore W4379285612C2780673598 @default.
• W4379285612 hasConceptScore W4379285612C2908647359 @default.
• W4379285612 hasConceptScore W4379285612C29456083 @default.
• W4379285612 hasConceptScore W4379285612C526805850 @default.
• W4379285612 hasConceptScore W4379285612C54355233 @default.
• W4379285612 hasConceptScore W4379285612C60748783 @default.
• W4379285612 hasConceptScore W4379285612C61320498 @default.
• W4379285612 hasConceptScore W4379285612C71924100 @default.
• W4379285612 hasConceptScore W4379285612C80227256 @default.
• W4379285612 hasConceptScore W4379285612C86803240 @default.
• W4379285612 hasConceptScore W4379285612C99454951 @default.
• W4379285612 hasIssue "16_suppl" @default.
• W4379285612 hasLocation W43792856121 @default.
• W4379285612 hasOpenAccess W4379285612 @default.
• W4379285612 hasPrimaryLocation W43792856121 @default.
• W4379285612 hasRelatedWork W1509212822 @default.
• W4379285612 hasRelatedWork W2001992425 @default.
• W4379285612 hasRelatedWork W2012502866 @default.
• W4379285612 hasRelatedWork W2093524448 @default.
• W4379285612 hasRelatedWork W2107549744 @default.
• W4379285612 hasRelatedWork W2119743181 @default.
• W4379285612 hasRelatedWork W2155276026 @default.
• W4379285612 hasRelatedWork W2911032670 @default.
• W4379285612 hasRelatedWork W2956080437 @default.
• W4379285612 hasRelatedWork W3206999910 @default.
• W4379285612 hasVolume "41" @default.
• W4379285612 isParatext "false" @default.
• W4379285612 isRetracted "false" @default.
• W4379285612 workType "article" @default.