FIGURE 8.

Schematic representation of FGFR2 mutations highlighting the spectrum difference of somatic mutations in melanoma compared with endometrial cancer, as well as germ-line mutations in craniosynostosis syndromes. A. Novel somatic mutations in FGFR2 identified in melanoma cell lines and uncultured tumors are presented in red above the schematic representation of the protein and numbered relative to FGFR2c (NP_000132.1). B. Somatic mutations in FGFR2 identified in primary endometrial cancers and cell lines are presented in green (top) above the schematic representation of the protein and are numbered relative to FGFR2b (NP_075259.2; ref. 12). Bottom, germ-line mutations associated with a variety of craniosynostosis syndromes and numbered relative to FGFR2c (NP_000132.1; http://www.hgmd.cf.ac.uk/ac/index.php). Novel mutations are underlined. Four somatic FGFR2 endometrial mutations, although not previously reported in the germ line, have an identical missense change reported in the paralogous position in FGFR3c in a skeletal chondrodysplasia (indicated with **; http://www.hgmd.cf.ac.uk/ac/index.php). Note that the majority of somatic mutations in endometrial cancer parallel those identified in the germ line, whereas every melanoma mutation was novel.