title: Presymptomatic genetic screening in families with multiple endocrine neoplasia type 2.
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.
authors.affiliation: Abteilung für Allgemeinchirurgie, Universität Hamburg, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Frilling
authors.forename: W
authors.initials: W
authors.lastname: Höppner
authors.forename: C
authors.initials: C
authors.lastname: Eng
authors.forename: L
authors.initials: L
authors.lastname: Mulligan
authors.forename: F
authors.initials: F
authors.lastname: Raue
authors.forename: C E
authors.initials: CE
authors.lastname: Broelsch
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D002116:Calcitonin / Q000378:metabolism; D018276:Carcinoma, Medullary / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control / Q000601:surgery; D002675:Child, Preschool; D029721:Drosophila Proteins; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007223:Infant; D008197:Lymph Node Excision; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control* / Q000601:surgery; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D012307:Risk Factors; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control / Q000601:surgery; D013965:Thyroidectomy; D016896:Treatment Outcome
chemical_list: D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D002116:Calcitonin; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila