Syed A. Ahmed, Karen Snow-Bailey, W

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Nine Novel Germline Gene Variants in the RET Proto-Oncogene Identified in Twelve Unrelated Cases Syed A. Ahmed, Karen Snow-Bailey, W. Edward Highsmith, Weimin Sun, Raymond G. Fenwick, Rong Mao The Journal of Molecular Diagnostics Volume 7, Issue 2, Pages 283-288 (May 2005) DOI: 10.1016/S1525-1578(10)60556-9 Copyright © 2005 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Case 2. Alteration at codon 666 AAG→GAG (K666E) was present in eight of 12 family members tested; three have MTC (II:14, II:18, and III:8), two have C-cell hyperplasia (II:15 and III:9), one had a positive pentagastrin stimulation test (II:7), and two did not have any clinical features of MEN2A or FMTC (III:1 and III:6). The K666E alteration was not detected in four family members; three are unaffected (II:6, II:12, and III:7) and another had a positive pentagastrin stimulation test (III:17). The Journal of Molecular Diagnostics 2005 7, 283-288DOI: (10.1016/S1525-1578(10)60556-9) Copyright © 2005 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Case 8. The alterations at codon 618 TGC→AGC (C618S) and codon 623 GAA→AAA E623K were first detected in a presymptomatic male with a family history of MTC (III:3). Testing of family members showed that C618S and E623K were on different chromosomes. Carriers of E623K alone did not have any clinical manifestations of MEN2 or FMTC (I:3, II:4, and III:1). Carriers of the C618S mutation either had thyroid cancer (II:1 and II:3) or were asymptomatic at relatively young ages (II:2, III:2, and III:3). The Journal of Molecular Diagnostics 2005 7, 283-288DOI: (10.1016/S1525-1578(10)60556-9) Copyright © 2005 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions