title: Clinical use of molecular information in the management of multiple endocrine neoplasia type 2A.
abstract: One hundred and ninety-seven members of 28 kindreds with multiple endocrine neoplasia type 2A (MEN 2A) were screened for RET proto-oncogene exon 10 and 11 mutations. Seventy-one known affected individuals had mutations of codons 609, 618, 620 or 634, whereas 53 unaffected individuals had no abnormalities. Nineteen out of 54 individuals of unknown status, mostly children, had RET mutations. Four of these children had thyroidectomy based on this analysis and were found to have C-cell abnormalities. We identified one false negative mutation analysis because of a codon 691 polymorphism. We conclude that RET mutational analysis is a cost-effective and accurate method for determination of gene carrier status in MEN 2A.
authors.affiliation: Division of Medicine, University of Texas M.D. Anderson Cancer Center, Houston, USA.
authors.forename: R F
authors.initials: RF
authors.lastname: Gagel
authors.forename: G J
authors.initials: GJ
authors.lastname: Cote
authors.forename: M J
authors.initials: MJ
authors.lastname: Martins Bugalho
authors.forename: A E
authors.initials: AE
authors.lastname: Boyd
authors.forename: T
authors.initials: T
authors.lastname: Cummings
authors.forename: H
authors.initials: H
authors.lastname: Goepfert
authors.forename: D B
authors.initials: DB
authors.lastname: Evans
authors.forename: A
authors.initials: A
authors.lastname: Cangir
authors.forename: S
authors.initials: S
authors.lastname: Khorana
authors.forename: P N
authors.initials: PN
authors.lastname: Schultz
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics*; D017354:Point Mutation; D000090063:Proto-Oncogene Mas; D011519:Proto-Oncogenes / Q000235:genetics*; D015203:Reproducibility of Results