title: Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.
abstract: Multiple endocrine neoplasia type 2A (MEN 2A) and familial medullary thyroid carcinoma (FMTC) are two closely related cancer syndromes inherited in an autosomal dominant manner. Mutations in the RET proto-oncogene were found in MEN 2A and FMTC families. In this study we report seven different germline mutations in the RET proto-oncogene in five of five MEN 2A and five of six FMTC families. Each of the mutations involves a cysteine residue in the extracellular cysteine-rich domain of the RET receptor tyrosine kinase. We developed simple polymerase chain reaction based diagnostic tests for all seven mutations in these families.
authors.affiliation: Department of Human Genetics and Molecular Biology, Collaborative Research, Inc., Waltham, MA 02154.
authors.forename: F
authors.initials: F
authors.lastname: Xue
authors.forename: H
authors.initials: H
authors.lastname: Yu
authors.forename: L H
authors.initials: LH
authors.lastname: Maurer
authors.forename: V A
authors.initials: VA
authors.lastname: Memoli
authors.forename: N
authors.initials: N
authors.lastname: Nutile-McMenemy
authors.forename: M K
authors.initials: MK
authors.lastname: Schuster
authors.forename: D W
authors.initials: DW
authors.lastname: Bowden
authors.forename: J
authors.initials: J
authors.lastname: Mao
authors.forename: W W
authors.initials: WW
authors.lastname: Noll
mesh_terms: D001483:Base Sequence; D018276:Carcinoma, Medullary / Q000235:genetics*; D003545:Cysteine; D004252:DNA Mutational Analysis; D029721:Drosophila Proteins; D006580:Genetic Carrier Screening; D006801:Humans; D008969:Molecular Sequence Data; D009377:Multiple Endocrine Neoplasia / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D011519:Proto-Oncogenes; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics*
chemical_list: D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila; D003545:Cysteine