FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4361244465> ?p ?o ?g. }

• W4361244465 endingPage "e711" @default.
• W4361244465 startingPage "e704" @default.
• W4361244465 abstract "Abstract Context Diffuse sclerosing papillary thyroid cancer (DSPTC) is rare, with limited data on its molecular genetics. Objective We studied the molecular genetics of a cohort of DSPTC. Methods DNA was isolated from paraffin blocks of 22 patients with DSPTC (15 females, 7 males, median age 18 years, range 8-81). We performed polymerase chain reaction–based Sanger sequencing and a next-generation sequencing (NGS) gene panel to characterize the genomic landscape of these tumors. We classified genetic alterations to definitely or probably pathogenic. Definitely pathogenic are genetic alterations that are well known to be associated with PTC (e.g., BRAFV600E). Probably pathogenic are other alterations in genes that were reported in The Cancer Genome Atlas or the poorly differentiated and anaplastic thyroid cancer datasets. Results Three tumors were tested only by Sanger sequencing and were negative for BRAFV600E, HRAS, KRAS, NRAS, TERT promoter, PTEN, and PIK3CA mutations. The other 19 tumors tested by NGS showed definitely pathogenic alterations in 10 patients (52.6%): 2/19 (10.5%) BRAFV600E, 5/19 (26.3%) CCDC6-RET (RET/PTC1), 1/19 (5.3%) NCOA4-RET (RET/PTC3), 1/19 (5.3%) STRN-ALK fusion, and 2/19 (10.6%) TP53 mutations. Probably pathogenic alterations occurred in 13/19 tumors (68.4%) and included variants in POLE (31.6%), CDKN2A (26%), NF1 (21%), BRCA2 (15.8%), SETD2 (5.3%), ATM (5.3%), FLT3 (5.3%), and ROS1 (5.3%). In 1 patient, the gene panel showed no alterations. No mutations were found in the RAS, PTEN, PIK3CA, or TERT promoter in all patients. There was no clear genotype/phenotype correlation. Conclusion In DSPTC, fusion genes are common, BRAFV600E is rare, and other usual point mutations are absent. Pathogenic and likely pathogenic variants in POLE, NF1, CDKN2A, BRCA2, TP53, SETD2, ATM, FLT3, and ROS1 occur in about two-thirds of DTPTC." @default.
• W4361244465 created "2023-03-31" @default.
• W4361244465 creator A5006485028 @default.
• W4361244465 creator A5019725858 @default.
• W4361244465 creator A5024057082 @default.
• W4361244465 creator A5034508551 @default.
• W4361244465 creator A5036609496 @default.
• W4361244465 creator A5051981478 @default.
• W4361244465 creator A5067099542 @default.
• W4361244465 creator A5069842414 @default.
• W4361244465 creator A5089019283 @default.
• W4361244465 date "2023-03-30" @default.
• W4361244465 modified "2023-10-16" @default.
• W4361244465 title "Molecular Genetics of Diffuse Sclerosing Papillary Thyroid Cancer" @default.
• W4361244465 cites W1848939527 @default.
• W4361244465 cites W1943574648 @default.
• W4361244465 cites W1988667947 @default.
• W4361244465 cites W1994422707 @default.
• W4361244465 cites W2004256584 @default.
• W4361244465 cites W2051978340 @default.
• W4361244465 cites W2053299722 @default.
• W4361244465 cites W2060643397 @default.
• W4361244465 cites W2131366297 @default.
• W4361244465 cites W2136280621 @default.
• W4361244465 cites W2180971114 @default.
• W4361244465 cites W2279570938 @default.
• W4361244465 cites W2297375919 @default.
• W4361244465 cites W2461081311 @default.
• W4361244465 cites W2562055621 @default.
• W4361244465 cites W2594536871 @default.
• W4361244465 cites W2768001225 @default.
• W4361244465 cites W3036527998 @default.
• W4361244465 cites W3134156491 @default.
• W4361244465 cites W3135402673 @default.
• W4361244465 cites W4286203091 @default.
• W4361244465 cites W4301391423 @default.
• W4361244465 doi "https://doi.org/10.1210/clinem/dgad185" @default.
• W4361244465 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36995892" @default.
• W4361244465 hasPublicationYear "2023" @default.
• W4361244465 type Work @default.
• W4361244465 citedByCount "1" @default.
• W4361244465 crossrefType "journal-article" @default.
• W4361244465 hasAuthorship W4361244465A5006485028 @default.
• W4361244465 hasAuthorship W4361244465A5019725858 @default.
• W4361244465 hasAuthorship W4361244465A5024057082 @default.
• W4361244465 hasAuthorship W4361244465A5034508551 @default.
• W4361244465 hasAuthorship W4361244465A5036609496 @default.
• W4361244465 hasAuthorship W4361244465A5051981478 @default.
• W4361244465 hasAuthorship W4361244465A5067099542 @default.
• W4361244465 hasAuthorship W4361244465A5069842414 @default.
• W4361244465 hasAuthorship W4361244465A5089019283 @default.
• W4361244465 hasBestOaLocation W43612444651 @default.
• W4361244465 hasConcept C104317684 @default.
• W4361244465 hasConcept C1167327 @default.
• W4361244465 hasConcept C121608353 @default.
• W4361244465 hasConcept C151730666 @default.
• W4361244465 hasConcept C190283241 @default.
• W4361244465 hasConcept C204315192 @default.
• W4361244465 hasConcept C21790070 @default.
• W4361244465 hasConcept C2777609662 @default.
• W4361244465 hasConcept C2779343474 @default.
• W4361244465 hasConcept C2779761222 @default.
• W4361244465 hasConcept C2780265364 @default.
• W4361244465 hasConcept C2781187634 @default.
• W4361244465 hasConcept C2781461381 @default.
• W4361244465 hasConcept C501734568 @default.
• W4361244465 hasConcept C502942594 @default.
• W4361244465 hasConcept C54355233 @default.
• W4361244465 hasConcept C76818968 @default.
• W4361244465 hasConcept C86554907 @default.
• W4361244465 hasConcept C86803240 @default.
• W4361244465 hasConceptScore W4361244465C104317684 @default.
• W4361244465 hasConceptScore W4361244465C1167327 @default.
• W4361244465 hasConceptScore W4361244465C121608353 @default.
• W4361244465 hasConceptScore W4361244465C151730666 @default.
• W4361244465 hasConceptScore W4361244465C190283241 @default.
• W4361244465 hasConceptScore W4361244465C204315192 @default.
• W4361244465 hasConceptScore W4361244465C21790070 @default.
• W4361244465 hasConceptScore W4361244465C2777609662 @default.
• W4361244465 hasConceptScore W4361244465C2779343474 @default.
• W4361244465 hasConceptScore W4361244465C2779761222 @default.
• W4361244465 hasConceptScore W4361244465C2780265364 @default.
• W4361244465 hasConceptScore W4361244465C2781187634 @default.
• W4361244465 hasConceptScore W4361244465C2781461381 @default.
• W4361244465 hasConceptScore W4361244465C501734568 @default.
• W4361244465 hasConceptScore W4361244465C502942594 @default.
• W4361244465 hasConceptScore W4361244465C54355233 @default.
• W4361244465 hasConceptScore W4361244465C76818968 @default.
• W4361244465 hasConceptScore W4361244465C86554907 @default.
• W4361244465 hasConceptScore W4361244465C86803240 @default.
• W4361244465 hasFunder F4320321144 @default.
• W4361244465 hasIssue "9" @default.
• W4361244465 hasLocation W43612444651 @default.
• W4361244465 hasLocation W43612444652 @default.
• W4361244465 hasOpenAccess W4361244465 @default.
• W4361244465 hasPrimaryLocation W43612444651 @default.
• W4361244465 hasRelatedWork W2006534826 @default.
• W4361244465 hasRelatedWork W2152566353 @default.

• next