Article
PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor.
Gastroenterology - 1 Jan 2004
Chompret Agnès, Kannengiesser Caroline, Barrois Michel, Terrier Philippe, Dahan Philippe, Tursz Thomas, Lenoir Gilbert M, Bressac-De Paillerets Brigitte
Abstract excerpt
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...
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