FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1544124129> ?p ?o ?g. }

• W1544124129 endingPage "e1005467" @default.
• W1544124129 startingPage "e1005467" @default.
• W1544124129 abstract "The genetic landscape of medullary thyroid cancer (MTC) is not yet fully understood, although some oncogenic mutations have been identified. To explore genetic profiles of MTCs, formalin-fixed, paraffin-embedded tumor tissues from MTC patients were assayed on the Ion AmpliSeq Cancer Panel v2. Eighty-four sporadic MTC samples and 36 paired normal thyroid tissues were successfully sequenced. We discovered 101 hotspot mutations in 18 genes in the 84 MTC tissue samples. The most common mutation was in the ret proto-oncogene, which occurred in 47 cases followed by mutations in genes encoding Harvey rat sarcoma viral oncogene homolog (N = 14), serine/threonine kinase 11 (N = 11), v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (N = 6), mutL homolog 1 (N = 4), Kiesten rat sarcoma viral oncogene homolog (N = 3) and MET proto-oncogene (N = 3). We also evaluated anaplastic lymphoma kinase (ALK) rearrangement by immunohistochemistry and break-apart fluorescence in situ hybridization (FISH). Two of 98 screened cases were positive for ALK FISH. To identify the genomic breakpoint and 5’ fusion partner of ALK, customized targeted cancer panel sequencing was performed using DNA from tumor samples of the two patients. Glutamine:fructose-6-phosphate transaminase 1 (GFPT1)-ALK and echinoderm microtubule-associated protein-like 4 (EML4)-ALK fusions were identified. Additional PCR analysis, followed by Sanger sequencing, confirmed the GFPT1-ALK fusion, indicating that the fusion is a result of intra-chromosomal translocation or deletion. Notably, a metastatic MTC case harboring the EML4-ALK fusion showed a dramatic response to an ALK inhibitor, crizotinib. In conclusion, we found several genetic mutations in MTC and are the first to identify ALK fusions in MTC. Our results suggest that the EML4-ALK fusion in MTC may be a potential driver mutation and a valid target of ALK inhibitors. Furthermore, the GFPT1-ALK fusion may be a potential candidate for molecular target therapy." @default.
• W1544124129 created "2016-06-24" @default.
• W1544124129 creator A5003283147 @default.
• W1544124129 creator A5008078417 @default.
• W1544124129 creator A5014555984 @default.
• W1544124129 creator A5014804533 @default.
• W1544124129 creator A5030107272 @default.
• W1544124129 creator A5032561728 @default.
• W1544124129 creator A5034739279 @default.
• W1544124129 creator A5035186338 @default.
• W1544124129 creator A5040238733 @default.
• W1544124129 creator A5040287982 @default.
• W1544124129 creator A5041162837 @default.
• W1544124129 creator A5055431215 @default.
• W1544124129 creator A5060940016 @default.
• W1544124129 creator A5091307569 @default.
• W1544124129 date "2015-08-21" @default.
• W1544124129 modified "2023-10-07" @default.
• W1544124129 title "Identification of Driving ALK Fusion Genes and Genomic Landscape of Medullary Thyroid Cancer" @default.
• W1544124129 cites W102737505 @default.
• W1544124129 cites W1489468742 @default.
• W1544124129 cites W1914991141 @default.
• W1544124129 cites W1966702599 @default.
• W1544124129 cites W1968517866 @default.
• W1544124129 cites W1971154913 @default.
• W1544124129 cites W1974903221 @default.
• W1544124129 cites W2010561682 @default.
• W1544124129 cites W2010619956 @default.
• W1544124129 cites W2035766541 @default.
• W1544124129 cites W2038586807 @default.
• W1544124129 cites W2044761914 @default.
• W1544124129 cites W2045931266 @default.
• W1544124129 cites W2050249255 @default.
• W1544124129 cites W2055402151 @default.
• W1544124129 cites W2060543813 @default.
• W1544124129 cites W2076780975 @default.
• W1544124129 cites W2086718822 @default.
• W1544124129 cites W2094903176 @default.
• W1544124129 cites W2096710550 @default.
• W1544124129 cites W2104830962 @default.
• W1544124129 cites W2109833554 @default.
• W1544124129 cites W2122956665 @default.
• W1544124129 cites W2126298634 @default.
• W1544124129 cites W2126726571 @default.
• W1544124129 cites W2129157826 @default.
• W1544124129 cites W2139110945 @default.
• W1544124129 cites W2143991580 @default.
• W1544124129 cites W2160863198 @default.
• W1544124129 cites W2171651199 @default.
• W1544124129 cites W2172208023 @default.
• W1544124129 cites W3142472562 @default.
• W1544124129 cites W4248988283 @default.
• W1544124129 cites W77816005 @default.
• W1544124129 doi "https://doi.org/10.1371/journal.pgen.1005467" @default.
• W1544124129 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4546689" @default.
• W1544124129 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26295973" @default.
• W1544124129 hasPublicationYear "2015" @default.
• W1544124129 type Work @default.
• W1544124129 sameAs 1544124129 @default.
• W1544124129 citedByCount "98" @default.
• W1544124129 countsByYear W15441241292015 @default.
• W1544124129 countsByYear W15441241292016 @default.
• W1544124129 countsByYear W15441241292017 @default.
• W1544124129 countsByYear W15441241292018 @default.
• W1544124129 countsByYear W15441241292019 @default.
• W1544124129 countsByYear W15441241292020 @default.
• W1544124129 countsByYear W15441241292021 @default.
• W1544124129 countsByYear W15441241292022 @default.
• W1544124129 countsByYear W15441241292023 @default.
• W1544124129 crossrefType "journal-article" @default.
• W1544124129 hasAuthorship W1544124129A5003283147 @default.
• W1544124129 hasAuthorship W1544124129A5008078417 @default.
• W1544124129 hasAuthorship W1544124129A5014555984 @default.
• W1544124129 hasAuthorship W1544124129A5014804533 @default.
• W1544124129 hasAuthorship W1544124129A5030107272 @default.
• W1544124129 hasAuthorship W1544124129A5032561728 @default.
• W1544124129 hasAuthorship W1544124129A5034739279 @default.
• W1544124129 hasAuthorship W1544124129A5035186338 @default.
• W1544124129 hasAuthorship W1544124129A5040238733 @default.
• W1544124129 hasAuthorship W1544124129A5040287982 @default.
• W1544124129 hasAuthorship W1544124129A5041162837 @default.
• W1544124129 hasAuthorship W1544124129A5055431215 @default.
• W1544124129 hasAuthorship W1544124129A5060940016 @default.
• W1544124129 hasAuthorship W1544124129A5091307569 @default.
• W1544124129 hasBestOaLocation W15441241291 @default.
• W1544124129 hasConcept C104317684 @default.
• W1544124129 hasConcept C111829193 @default.
• W1544124129 hasConcept C117643217 @default.
• W1544124129 hasConcept C121608353 @default.
• W1544124129 hasConcept C142724271 @default.
• W1544124129 hasConcept C153911025 @default.
• W1544124129 hasConcept C2776232967 @default.
• W1544124129 hasConcept C2776256026 @default.
• W1544124129 hasConcept C2777542201 @default.
• W1544124129 hasConcept C2779761222 @default.
• W1544124129 hasConcept C2780120053 @default.
• W1544124129 hasConcept C2781018059 @default.
• W1544124129 hasConcept C29537977 @default.

• next