Figure 1

Occurrence of mutations within exon9 and exon20 of the PIK3CA gene in endometrial cancer. (a) Overview of PIK3CA gene, encoding the p110α protein, a catalytic subunit of PI3K class IA proteins. Protein regions corresponding to exon9; helical domain and exon20; kinase domain, are shown with known mutational hotspot positions indicated on top. Abbreviations: p85BD; p85α regulatory subunit binding domain, RBD; RAS-binding domain, C2D; protein-kinase-C-homology-2 domain, Helical D; helical domain, Kinase D; kinase domain. (b) Overview of primary tumor (PT) and metastasis (M) sample sets and overlapping matching PT and M paired sample set (left side). Number of patients is denoted in parenthesis. Twenty-four unique mutations were observed in primary and (top-side of the exons) or in a primary tumor (under-side of the metastatic lesions by Sanger sequencing. Mutations found in primary and metastatic lesions are indicated at each side of the exon. Each dot represents a mutation in either a metastatic lesion exons). The blue dots represent a mutation that have been previously reported in the Catalogue of Somatic Mutations in cancer (COSMIC, v79) or The Cancer Genome Atlas (TCGA) databases, while the pink dots represent novel mutations not previously found in any cancer types or not seen in endometrial cancer. Three primary tumors revealed double mutations: p.E545A/E545D, p.E542V/E542*(STOP), p.Q546R/G1049S.