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Presymptomatic genetic screening in families with multiple endocrine neoplasia type 2 |
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| Authors: | A Frilling W Höppner C Eng L Mulligan F Raue C E Broelsch |
| Institution: | (1) Abteilung für Allgemeinchirurgie, Chirurgische Klinik, Universität Hamburg, Martinistrasse 52, D-20251 Hamburg, Germany;(2) Abteilung Molekulare Diagnostik, Institut für Hormon-und Fortpflanzungsforschung, Universität Hamburg, Martinistrasse 52, D-20251 Hamburg, Germany;(3) Cancer Research Campaign, Human Cancer Genetics Research Group, Department of Pathology, Cambridge University, Cambridge, UK;(4) Abteilung Innere Medizin I, Endokrinologie und Stoffwechsel, Universität Heidelberg, Heidelberg, Germany |
| Abstract: | Medullary thyroid carcinoma occurs sporadically or as a part of the inherited cancer syndrome multiple endocrine neoplasia (MEN) type 2. The MEN 2 gene has been identified as the RET proto-oncogene on chromosome 10. In MEN 2A, RET mutations are detectable in one of five cysteine codons within exons 10 and 11 and in MEN 2B in codon 918 (exon 16). Direct DNA testing for RET proto-oncogene mutations is the method of first choice in presymptomatic screening of MEN 2 families. Gene carriers should be offered prophylactic thyroidectomy. The process of DNA analysis for RET proto-oncogene mutations is demonstrated in one family with hereditary medullary thyroid carcinoma. RET mutations were detectable in five of the nine family members at risk.Abbreviations MEN Multiple endocrine neoplasia - MTC Medullary thyroid carcinoma - FMTC Familial medullary thyroid carcinoma - PCR Polymerase chain reaction - C-cells Calcitonin-producing parafollicular cells |
| Keywords: | Medullary thyroid carcinoma RET proto-oncogene Presymptomatic genetic screening |
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