FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2912581270> ?p ?o ?g. }

• W2912581270 endingPage "437" @default.
• W2912581270 startingPage "429" @default.
• W2912581270 abstract "BACKGROUND: Genomic profiling of colorectal cancer aims to identify actionable somatic mutations but can also discover incidental germline findings. OBJECTIVE: The purpose of this study was to report the detection of pathogenic germline variants that confer heritable cancer predisposition. DESIGN: This was a retrospective study. SETTINGS: The study was conducted at a tertiary-referral institution. PATIENTS: Between 2012 and 2015, 1000 patients with advanced cancer underwent targeted exome sequencing of a 202-gene panel. The subgroup of 151 patients with advanced colorectal cancer who underwent matched tumor-normal (blood) sequencing formed our study cohort. INTERVENTIONS: Germline variants in 46 genes associated with hereditary cancer predisposition were classified according to a defined algorithm based on in silico predictions of pathogenicity. Patients with presumed pathogenic variants were examined for type of mutation, as well as clinical, pedigree, and clinical genetic testing data. MAIN OUTCOME MEASURES: We measured detection of pathogenic germline variants. RESULTS: A total of 1910 distinct germline variants were observed in 151 patients. After filtering, 15 pathogenic germline variants (9.9%) were found in 15 patients, arising from 9 genes of varying penetrance for colorectal cancer (APC (n = 2; 13%), ATM (n = 1; 6%), BRCA1 (n = 2; 13%), CDH1 (n = 2; 13%), CHEK2 (n = 4; 27%), MSH2 (n = 1; 7%), MSH6 (n = 1; 7%), NF2 (n = 1; 7%), and TP53 (n = 1; 7%)). Patients with pathogenic variants were diagnosed at a younger age than those without (median, 45 vs 52 y; p = 0.03). Of the 15 patients, 7 patients (46.7%) with variants in low/moderate- penetrant genes for colorectal cancer would likely have not been tested based on clinical and pedigree criteria, where 2 harbored clinically actionable variants (CDH1 and NF2, 28.5% of 7). LIMITATIONS: This study was limited by its small sample size and advanced-stage patients. CONCLUSIONS: Tumor-normal sequencing can incidentally discover clinically unsuspected germline variants that confer cancer predisposition in 9.9% of patients with advanced colorectal cancer. Precision medicine should integrate clinical cancer genetics to inform and interpret the actionability of germline variants and to provide follow-up care to mutation carriers. See Video Abstract at https://links.lww.com/DCR/A906." @default.
• W2912581270 created "2019-02-21" @default.
• W2912581270 creator A5014104111 @default.
• W2912581270 creator A5031597694 @default.
• W2912581270 creator A5036336152 @default.
• W2912581270 creator A5050429899 @default.
• W2912581270 creator A5056376861 @default.
• W2912581270 creator A5057373704 @default.
• W2912581270 creator A5065553888 @default.
• W2912581270 creator A5070637370 @default.
• W2912581270 creator A5076426660 @default.
• W2912581270 creator A5080692116 @default.
• W2912581270 date "2019-04-01" @default.
• W2912581270 modified "2023-10-16" @default.
• W2912581270 title "Detection of Pathogenic Germline Variants Among Patients With Advanced Colorectal Cancer Undergoing Tumor Genomic Profiling for Precision Medicine" @default.
• W2912581270 cites W1638580279 @default.
• W2912581270 cites W1980740976 @default.
• W2912581270 cites W1987507232 @default.
• W2912581270 cites W2051978340 @default.
• W2912581270 cites W2053830735 @default.
• W2912581270 cites W2063500623 @default.
• W2912581270 cites W2104549677 @default.
• W2912581270 cites W2106410630 @default.
• W2912581270 cites W2109372707 @default.
• W2912581270 cites W2109378245 @default.
• W2912581270 cites W2121576824 @default.
• W2912581270 cites W2133732784 @default.
• W2912581270 cites W2141663748 @default.
• W2912581270 cites W2145922766 @default.
• W2912581270 cites W2160759097 @default.
• W2912581270 cites W2162077547 @default.
• W2912581270 cites W2167564136 @default.
• W2912581270 cites W2256432617 @default.
• W2912581270 cites W2309193218 @default.
• W2912581270 cites W2323348465 @default.
• W2912581270 cites W2346043562 @default.
• W2912581270 cites W2399870834 @default.
• W2912581270 cites W2418244275 @default.
• W2912581270 cites W2425061965 @default.
• W2912581270 cites W2462985846 @default.
• W2912581270 cites W2491936132 @default.
• W2912581270 cites W2527204985 @default.
• W2912581270 cites W2554756829 @default.
• W2912581270 cites W2565479307 @default.
• W2912581270 cites W2589836162 @default.
• W2912581270 cites W2753565653 @default.
• W2912581270 cites W2761067356 @default.
• W2912581270 cites W2768155350 @default.
• W2912581270 cites W2774608945 @default.
• W2912581270 cites W2796208126 @default.
• W2912581270 doi "https://doi.org/10.1097/dcr.0000000000001322" @default.
• W2912581270 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6415928" @default.
• W2912581270 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30730459" @default.
• W2912581270 hasPublicationYear "2019" @default.
• W2912581270 type Work @default.
• W2912581270 sameAs 2912581270 @default.
• W2912581270 citedByCount "19" @default.
• W2912581270 countsByYear W29125812702019 @default.
• W2912581270 countsByYear W29125812702020 @default.
• W2912581270 countsByYear W29125812702021 @default.
• W2912581270 countsByYear W29125812702022 @default.
• W2912581270 countsByYear W29125812702023 @default.
• W2912581270 crossrefType "journal-article" @default.
• W2912581270 hasAuthorship W2912581270A5014104111 @default.
• W2912581270 hasAuthorship W2912581270A5031597694 @default.
• W2912581270 hasAuthorship W2912581270A5036336152 @default.
• W2912581270 hasAuthorship W2912581270A5050429899 @default.
• W2912581270 hasAuthorship W2912581270A5056376861 @default.
• W2912581270 hasAuthorship W2912581270A5057373704 @default.
• W2912581270 hasAuthorship W2912581270A5065553888 @default.
• W2912581270 hasAuthorship W2912581270A5070637370 @default.
• W2912581270 hasAuthorship W2912581270A5076426660 @default.
• W2912581270 hasAuthorship W2912581270A5080692116 @default.
• W2912581270 hasBestOaLocation W29125812702 @default.
• W2912581270 hasConcept C104317684 @default.
• W2912581270 hasConcept C109825262 @default.
• W2912581270 hasConcept C121608353 @default.
• W2912581270 hasConcept C126322002 @default.
• W2912581270 hasConcept C127716648 @default.
• W2912581270 hasConcept C13514818 @default.
• W2912581270 hasConcept C141496672 @default.
• W2912581270 hasConcept C143998085 @default.
• W2912581270 hasConcept C16671776 @default.
• W2912581270 hasConcept C200544954 @default.
• W2912581270 hasConcept C2776071976 @default.
• W2912581270 hasConcept C2776559941 @default.
• W2912581270 hasConcept C2776674815 @default.
• W2912581270 hasConcept C2779115348 @default.
• W2912581270 hasConcept C2780140570 @default.
• W2912581270 hasConcept C2780673598 @default.
• W2912581270 hasConcept C501734568 @default.
• W2912581270 hasConcept C526805850 @default.
• W2912581270 hasConcept C54355233 @default.
• W2912581270 hasConcept C60748783 @default.
• W2912581270 hasConcept C71924100 @default.
• W2912581270 hasConcept C86803240 @default.
• W2912581270 hasConceptScore W2912581270C104317684 @default.
• W2912581270 hasConceptScore W2912581270C109825262 @default.

• next