Clinical use of molecular information in the management of multiple endocrine neoplasia type 2A. J Intern Med 1995 Oct;238(4):333-41
Date
10/01/1995Pubmed ID
7595169DOI
10.1111/j.1365-2796.1995.tb01207.xScopus ID
2-s2.0-0028881997 (requires institutional sign-in at Scopus site) 67 CitationsAbstract
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.
Author List
Gagel RF, Cote GJ, Martins Bugalho MJ, Boyd AE 3rd, Cummings T, Goepfert H, Evans DB, Cangir A, Khorana S, Schultz PNAuthor
Douglas B. Evans MD Chair, Professor in the Surgery department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Amino Acid SequenceBase Sequence
Child
Child, Preschool
Female
Heterozygote
Humans
Male
Molecular Sequence Data
Multiple Endocrine Neoplasia Type 2a
Point Mutation
Proto-Oncogenes
Reproducibility of Results
