1. Volume 126, Issue 1, Pages 318-321 (January 2004)
PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor 
Agnès Chompret, Caroline Kannengiesser, Michel Barrois, Philippe Terrier, Philippe Dahan, Thomas Tursz, Gilbert M. Lenoir, Brigitte Bressac-De Paillerets 
Gastroenterology 
Volume 126, Issue 1, Pages (January 2004)
DOI: /j.gastro

2. Figure 1
A family with multiple GISTs and a cosegregating PDGFRA germline mutation. (A) Family pedigree. Half-filled red symbols indicate family members with proven GIST, quarter-filled red symbols indicate family members with suspected GIST, and half-filled grey symbols indicate family members with unusually large hands. The index case, patient III-5, is marked with an arrow. Below the symbols are indicated: first, either age at death (d.67y), age at diagnosis of GIST (GIST 48y) or current age (52y); second, the PDGFRA germline mutational status: wild-type in blue for PDGFRA mutation noncarriers or D846Y in red for PDGFRA mutation carriers. (B) Microscopic findings of the gastric tumor; left, HES staining; middle, immunohistochemical expression of CD34; right, KIT expression. (C) Sequence chromatographs from PDGFRA showing on the left, a wild-type sequence; on the right, a 2675G>C germline transversion resulting in a D846Y substitution. (D) Alignment of KIT (upper) and PDGFRα (lower) amino acid sequences that are parts of the tyrosine kinase domains. Similarities between gene-coding sequences are indicated by black arrows: exon 17 and partial exon 18 of the KIT gene and exon 18 and partial exon 19 of the PDGFRA gene. Amino acids in red are highly conserved; amino acids in black are not conserved. Germline missense mutations targeting the aspartic acid residue corresponding to codon 820 of c-kit and to codon 846 of PDGFRα, respectively, are indicated in blue with an arrow.
Gastroenterology  , DOI: ( /j.gastro )