FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2060358061> ?p ?o ?g. }

• W2060358061 endingPage "98" @default.
• W2060358061 startingPage "91" @default.
• W2060358061 abstract "Abstract Hereditary gastrointestinal stromal tumor (GIST) syndrome is a rare autosomal dominant genetic disorder originated by germline mutations in the KIT or PDGFRA genes. We report the third family with hereditary predisposition to GIST due to the KIT Exon 17 germline mutation p.Asp820Tyr and characterize the cytogenetic progression pathways followed by different GIST sharing the same primary genetic event, using a combination of chromosome banding, comparative genomic hybridization (CGH), and fluorescence in situ hybridization (FISH) analyses. The missense mutation p.Asp820Tyr was detected in the proband's rectal and gastric GIST, as well as in his aunt's GIST epiplon metastasis. The mutation p.Asp820Tyr was subsequently also found in the proband's peripheral blood DNA, as well as in that of 4 of 10 relatives thus far analyzed. CGH analysis revealed loss of 14q and 15q in the proband's gastric lesion, whereas FISH analysis of the proband's rectal GIST did not detect loss of 14q and 15q, but instead loss of 4q and 22q and gain of 20q, indicating that the two tumors were independent GIST. Chromosome banding and CGH analyses of the aunt's GIST epiplon metastasis revealed multiple cytogenetic alterations, including 1p loss, but none in common with the two proband's GIST. We conclude that, although the patients share the same KIT Exon 17 germline mutation, the multiple GIST analyzed followed different pathogenetic progression pathways, each of which did not significantly differ from what has been described in sporadic GIST. © 2009 Wiley‐Liss, Inc." @default.
• W2060358061 created "2016-06-24" @default.
• W2060358061 creator A5001277160 @default.
• W2060358061 creator A5005096269 @default.
• W2060358061 creator A5005314301 @default.
• W2060358061 creator A5013034110 @default.
• W2060358061 creator A5026468600 @default.
• W2060358061 creator A5039180839 @default.
• W2060358061 creator A5041140636 @default.
• W2060358061 creator A5047343715 @default.
• W2060358061 creator A5058410680 @default.
• W2060358061 creator A5066379608 @default.
• W2060358061 creator A5067465660 @default.
• W2060358061 creator A5079384416 @default.
• W2060358061 creator A5088551747 @default.
• W2060358061 creator A5088879685 @default.
• W2060358061 date "2009-10-21" @default.
• W2060358061 modified "2023-10-18" @default.
• W2060358061 title "Hereditary gastrointestinal stromal tumors sharing the KIT Exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathways" @default.
• W2060358061 cites W1549034776 @default.
• W2060358061 cites W170519987 @default.
• W2060358061 cites W1933891757 @default.
• W2060358061 cites W1966218141 @default.
• W2060358061 cites W1968478357 @default.
• W2060358061 cites W1968775513 @default.
• W2060358061 cites W1969887380 @default.
• W2060358061 cites W1971322184 @default.
• W2060358061 cites W1975240950 @default.
• W2060358061 cites W1978095082 @default.
• W2060358061 cites W1987375383 @default.
• W2060358061 cites W1988027300 @default.
• W2060358061 cites W1991563901 @default.
• W2060358061 cites W1994834086 @default.
• W2060358061 cites W2002677297 @default.
• W2060358061 cites W2006556639 @default.
• W2060358061 cites W2007328596 @default.
• W2060358061 cites W2008920989 @default.
• W2060358061 cites W2016899343 @default.
• W2060358061 cites W2025447556 @default.
• W2060358061 cites W2025841318 @default.
• W2060358061 cites W2028750359 @default.
• W2060358061 cites W2035157342 @default.
• W2060358061 cites W2040316588 @default.
• W2060358061 cites W2047757025 @default.
• W2060358061 cites W2055763832 @default.
• W2060358061 cites W2057034657 @default.
• W2060358061 cites W2062593881 @default.
• W2060358061 cites W2068550669 @default.
• W2060358061 cites W2080350750 @default.
• W2060358061 cites W2083330805 @default.
• W2060358061 cites W2100152541 @default.
• W2060358061 cites W2103322585 @default.
• W2060358061 cites W2105396280 @default.
• W2060358061 cites W2107590922 @default.
• W2060358061 cites W2108431450 @default.
• W2060358061 cites W2119151047 @default.
• W2060358061 cites W2130755604 @default.
• W2060358061 cites W2137211135 @default.
• W2060358061 cites W2149698450 @default.
• W2060358061 cites W2160215400 @default.
• W2060358061 cites W4246876375 @default.
• W2060358061 doi "https://doi.org/10.1002/gcc.20720" @default.
• W2060358061 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19847891" @default.
• W2060358061 hasPublicationYear "2009" @default.
• W2060358061 type Work @default.
• W2060358061 sameAs 2060358061 @default.
• W2060358061 citedByCount "16" @default.
• W2060358061 countsByYear W20603580612013 @default.
• W2060358061 countsByYear W20603580612015 @default.
• W2060358061 countsByYear W20603580612016 @default.
• W2060358061 countsByYear W20603580612017 @default.
• W2060358061 countsByYear W20603580612020 @default.
• W2060358061 countsByYear W20603580612021 @default.
• W2060358061 crossrefType "journal-article" @default.
• W2060358061 hasAuthorship W2060358061A5001277160 @default.
• W2060358061 hasAuthorship W2060358061A5005096269 @default.
• W2060358061 hasAuthorship W2060358061A5005314301 @default.
• W2060358061 hasAuthorship W2060358061A5013034110 @default.
• W2060358061 hasAuthorship W2060358061A5026468600 @default.
• W2060358061 hasAuthorship W2060358061A5039180839 @default.
• W2060358061 hasAuthorship W2060358061A5041140636 @default.
• W2060358061 hasAuthorship W2060358061A5047343715 @default.
• W2060358061 hasAuthorship W2060358061A5058410680 @default.
• W2060358061 hasAuthorship W2060358061A5066379608 @default.
• W2060358061 hasAuthorship W2060358061A5067465660 @default.
• W2060358061 hasAuthorship W2060358061A5079384416 @default.
• W2060358061 hasAuthorship W2060358061A5088551747 @default.
• W2060358061 hasAuthorship W2060358061A5088879685 @default.
• W2060358061 hasConcept C104317684 @default.
• W2060358061 hasConcept C109825262 @default.
• W2060358061 hasConcept C121608353 @default.
• W2060358061 hasConcept C13514818 @default.
• W2060358061 hasConcept C16930146 @default.
• W2060358061 hasConcept C188997412 @default.
• W2060358061 hasConcept C2775922572 @default.
• W2060358061 hasConcept C2777007597 @default.
• W2060358061 hasConcept C2777542201 @default.
• W2060358061 hasConcept C2779013556 @default.

• next