Article
Gastrointestinal stromal tumors: insights from a new familial GIST kindred with unusual genetic and pathologic features.
The American journal of surgical pathology - 1 Dec 2005
O'Riain Ciarán, Corless Christopher L, Heinrich Michael C, Keegan Denise, Vioreanu Mihai, Maguire Donal, Sheahan Kieran
Abstract excerpt
Familial gastrointestinal stromal tumor (GIST) is a rare autosomal dominant genetic disorder. We report the second family to date with a germline point mutation in exon 17 of the KIT gene that leads to substitution of aspartic acid at position 820 with tyrosine (D820Y). One or more GISTs was documented in three generations of this kindred, and there was associated hyperplasia of the interstitial cells of Cajal...
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