FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2784355197> ?p ?o ?g. }

• W2784355197 endingPage "13" @default.
• W2784355197 startingPage "1" @default.
• W2784355197 abstract "Patients with Lynch syndrome (LS) have a significantly increased risk of developing upper-tract urothelial carcinoma (UTUC). Here, we sought to identify differences in the patterns of mutational changes in LS-associated versus sporadic UTUCs.We performed targeted sequencing of 17 UTUCs from patients with documented LS-associated germline mutations (LS-UTUCs) using the Memorial Sloan Kettering Integrated Molecular Profiling of Actionable Cancer Targets targeted exon capture assay and compared the results with those from a recently characterized cohort of 82 patients with sporadic UTUC.Patients with LS-UTUC were significantly younger, had had less exposure to tobacco, and more often presented with a ureteral primary site compared with patients with sporadic UTUC. The median number of mutations per tumor was significantly greater in LS-UTUC tumors than in tumors from the sporadic cohort (58; interquartile range [IQR], 47-101 v 6; IQR, 4-10; P < .001), as was the MSIsensor score (median, 25.1; IQR, 17.9-31.2 v 0.03; IQR, 0-0.44; P < .001). Differences in the genetic landscape were observed between sporadic and LS-associated tumors. Alterations in KMT2D, CREBBP, or ARID1A or in DNA damage response and repair genes were present at a significantly higher frequency in LS-UTUC. CIC, NOTCH1, NOTCH3, RB1, and CDKN1B alterations were almost exclusive to LS-UTUC. Although FGFR3 mutations were identified in both cohorts, the R248C hotspot mutation was highly enriched in LS-UTUC.LSand sporadic UTUCs have overlapping but distinct genetic signatures. LS-UTUC is associated with hypermutation and a significantly higher prevalence of FGFR3 R248C mutation. Prospective molecular characterization of patients to identify those with LS-UTUC may help guide treatment." @default.
• W2784355197 created "2018-02-02" @default.
• W2784355197 creator A5002349630 @default.
• W2784355197 creator A5004669792 @default.
• W2784355197 creator A5010082766 @default.
• W2784355197 creator A5020131795 @default.
• W2784355197 creator A5022477189 @default.
• W2784355197 creator A5023667273 @default.
• W2784355197 creator A5029101674 @default.
• W2784355197 creator A5029739993 @default.
• W2784355197 creator A5031667361 @default.
• W2784355197 creator A5033054923 @default.
• W2784355197 creator A5036106560 @default.
• W2784355197 creator A5037377971 @default.
• W2784355197 creator A5051077025 @default.
• W2784355197 creator A5053217861 @default.
• W2784355197 creator A5053532132 @default.
• W2784355197 creator A5064203357 @default.
• W2784355197 creator A5067264659 @default.
• W2784355197 creator A5074087271 @default.
• W2784355197 creator A5076928530 @default.
• W2784355197 creator A5081581200 @default.
• W2784355197 creator A5086957919 @default.
• W2784355197 creator A5089438923 @default.
• W2784355197 creator A5090508414 @default.
• W2784355197 date "2018-11-01" @default.
• W2784355197 modified "2023-10-14" @default.
• W2784355197 title "Genomic Characterization of Upper-Tract Urothelial Carcinoma in Patients With Lynch Syndrome" @default.
• W2784355197 cites W1493525469 @default.
• W2784355197 cites W1527483508 @default.
• W2784355197 cites W1829677782 @default.
• W2784355197 cites W1940241680 @default.
• W2784355197 cites W1972240152 @default.
• W2784355197 cites W1975403292 @default.
• W2784355197 cites W1980525903 @default.
• W2784355197 cites W1982643760 @default.
• W2784355197 cites W1995469832 @default.
• W2784355197 cites W2008255210 @default.
• W2784355197 cites W2031541885 @default.
• W2784355197 cites W2038111129 @default.
• W2784355197 cites W2049833612 @default.
• W2784355197 cites W2062533273 @default.
• W2784355197 cites W2064470268 @default.
• W2784355197 cites W2077059059 @default.
• W2784355197 cites W2080903931 @default.
• W2784355197 cites W2096371251 @default.
• W2784355197 cites W2101106357 @default.
• W2784355197 cites W2117564738 @default.
• W2784355197 cites W2130940380 @default.
• W2784355197 cites W2139097459 @default.
• W2784355197 cites W2143033064 @default.
• W2784355197 cites W2149270270 @default.
• W2784355197 cites W2152061559 @default.
• W2784355197 cites W2405513305 @default.
• W2784355197 cites W2426015402 @default.
• W2784355197 cites W2623134322 @default.
• W2784355197 cites W4233603089 @default.
• W2784355197 doi "https://doi.org/10.1200/po.17.00143" @default.
• W2784355197 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6404976" @default.
• W2784355197 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30854504" @default.
• W2784355197 hasPublicationYear "2018" @default.
• W2784355197 type Work @default.
• W2784355197 sameAs 2784355197 @default.
• W2784355197 citedByCount "21" @default.
• W2784355197 countsByYear W27843551972019 @default.
• W2784355197 countsByYear W27843551972020 @default.
• W2784355197 countsByYear W27843551972021 @default.
• W2784355197 countsByYear W27843551972022 @default.
• W2784355197 countsByYear W27843551972023 @default.
• W2784355197 crossrefType "journal-article" @default.
• W2784355197 hasAuthorship W2784355197A5002349630 @default.
• W2784355197 hasAuthorship W2784355197A5004669792 @default.
• W2784355197 hasAuthorship W2784355197A5010082766 @default.
• W2784355197 hasAuthorship W2784355197A5020131795 @default.
• W2784355197 hasAuthorship W2784355197A5022477189 @default.
• W2784355197 hasAuthorship W2784355197A5023667273 @default.
• W2784355197 hasAuthorship W2784355197A5029101674 @default.
• W2784355197 hasAuthorship W2784355197A5029739993 @default.
• W2784355197 hasAuthorship W2784355197A5031667361 @default.
• W2784355197 hasAuthorship W2784355197A5033054923 @default.
• W2784355197 hasAuthorship W2784355197A5036106560 @default.
• W2784355197 hasAuthorship W2784355197A5037377971 @default.
• W2784355197 hasAuthorship W2784355197A5051077025 @default.
• W2784355197 hasAuthorship W2784355197A5053217861 @default.
• W2784355197 hasAuthorship W2784355197A5053532132 @default.
• W2784355197 hasAuthorship W2784355197A5064203357 @default.
• W2784355197 hasAuthorship W2784355197A5067264659 @default.
• W2784355197 hasAuthorship W2784355197A5074087271 @default.
• W2784355197 hasAuthorship W2784355197A5076928530 @default.
• W2784355197 hasAuthorship W2784355197A5081581200 @default.
• W2784355197 hasAuthorship W2784355197A5086957919 @default.
• W2784355197 hasAuthorship W2784355197A5089438923 @default.
• W2784355197 hasAuthorship W2784355197A5090508414 @default.
• W2784355197 hasBestOaLocation W27843551971 @default.
• W2784355197 hasConcept C104317684 @default.
• W2784355197 hasConcept C119060515 @default.
• W2784355197 hasConcept C121608353 @default.
• W2784355197 hasConcept C126322002 @default.

• next