| pubmed-article:14699510 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:14699510 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:14699510 | lifeskim:mentions | umls-concept:C0238198 | lld:lifeskim |
| pubmed-article:14699510 | lifeskim:mentions | umls-concept:C1335201 | lld:lifeskim |
| pubmed-article:14699510 | lifeskim:mentions | umls-concept:C0206530 | lld:lifeskim |
| pubmed-article:14699510 | lifeskim:mentions | umls-concept:C0439064 | lld:lifeskim |
| pubmed-article:14699510 | lifeskim:mentions | umls-concept:C0868928 | lld:lifeskim |
| pubmed-article:14699510 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:14699510 | pubmed:dateCreated | 2003-12-30 | lld:pubmed |
| pubmed-article:14699510 | pubmed:abstractText | Familial gastrointestinal stromal tumor (GIST) is a rare autosomal dominant genetic disorder associated with KIT germline mutations. In sporadic forms of the disease, somatic mutations target either KIT or PDGFRA genes. In a kindred in which 5 individuals had GIST, no germline mutation in KIT coding sequence has been detected. We hypothesized that the PDGFRA gene could be a predisposing gene in familial GIST. We sequenced PDGFRA exons 12 and 18 because several somatic mutations were identified within this region. We detected a germline PDGFRA missense mutation, 2675G > T, resulting in a tyrosine substitution for the highly conserved aspartic acid at codon 846. This mutation showed perfect cosegregation with the GIST phenotype among the 7 family members tested. Interestingly, PDGFRA Asp846 is homologous to codon 820, which is located in the KIT tyrosine kinase II domain. In a previous study, a KIT germline Asp820Tyr mutation was detected in a Japanese kindred in which 6 individuals had GIST. Transfection of a KIT820Tyr complementary DNA in nude mice was found to be tumorigenic confirming the oncogenic potential of this mutation. The present study shows that PDGFRA is a second familial GIST predisposing gene. These results indicate a further example of involvement of structurally related genes in familial cancer syndromes. | lld:pubmed |
| pubmed-article:14699510 | pubmed:language | eng | lld:pubmed |
| pubmed-article:14699510 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14699510 | pubmed:citationSubset | AIM | lld:pubmed |
| pubmed-article:14699510 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14699510 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:14699510 | pubmed:month | Jan | lld:pubmed |
| pubmed-article:14699510 | pubmed:issn | 0016-5085 | lld:pubmed |
| pubmed-article:14699510 | pubmed:author | pubmed-author:BarroisMichel... | lld:pubmed |
| pubmed-article:14699510 | pubmed:author | pubmed-author:LenoirGilbert... | lld:pubmed |
| pubmed-article:14699510 | pubmed:author | pubmed-author:ChompretAgnès... | lld:pubmed |
| pubmed-article:14699510 | pubmed:author | pubmed-author:TurszThomasT | lld:pubmed |
| pubmed-article:14699510 | pubmed:author | pubmed-author:TerrierPhilip... | lld:pubmed |
| pubmed-article:14699510 | pubmed:author | pubmed-author:Kannengiesser... | lld:pubmed |
| pubmed-article:14699510 | pubmed:author | pubmed-author:DahanPhilippe... | lld:pubmed |
| pubmed-article:14699510 | pubmed:author | pubmed-author:Bressac-De... | lld:pubmed |
| pubmed-article:14699510 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:14699510 | pubmed:volume | 126 | lld:pubmed |
| pubmed-article:14699510 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:14699510 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:14699510 | pubmed:pagination | 318-21 | lld:pubmed |
| pubmed-article:14699510 | pubmed:dateRevised | 2009-11-19 | lld:pubmed |
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| pubmed-article:14699510 | pubmed:meshHeading | pubmed-meshheading:14699510... | lld:pubmed |
| pubmed-article:14699510 | pubmed:meshHeading | pubmed-meshheading:14699510... | lld:pubmed |
| pubmed-article:14699510 | pubmed:meshHeading | pubmed-meshheading:14699510... | lld:pubmed |
| pubmed-article:14699510 | pubmed:meshHeading | pubmed-meshheading:14699510... | lld:pubmed |
| pubmed-article:14699510 | pubmed:meshHeading | pubmed-meshheading:14699510... | lld:pubmed |
| pubmed-article:14699510 | pubmed:year | 2004 | lld:pubmed |
| pubmed-article:14699510 | pubmed:articleTitle | PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. | lld:pubmed |
| pubmed-article:14699510 | pubmed:affiliation | Department of Medicine, Institut Gustave Roussy, Villejuif, France. | lld:pubmed |
| pubmed-article:14699510 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:14699510 | pubmed:publicationType | Case Reports | lld:pubmed |
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