Significance of EGFR/HER2 Expression and PIK3CA Mutations in Giant Cell Tumour of Bone Development

Figure 4

Frameshift mutation, c.1658-1659delGTinsC encoding p.S553Tfs7, in the exon 9 of PIK3CA gene. (a) Sequence chromatograms from affected patient with the c.1658-1659delGTinsC mutation in PIK3CA gene. (b) c.1658-1659delGTinsC substituted the serine residue (S) at position 1658 to threonine residue (T) and changed the 7 amino acids next to the insertion leading to a premature termination codon (p.S553Tfs7X). (c) Loss of the catalytic domain of PIK3CA protein in the mutated form.

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