title: Multiple endocrine neoplasia type 2A in a black South African family.
abstract: The genetic abnormality of multiple endocrine neoplasia type 2A (MEN 2A) has recently been elucidated. Over 95% of families with MEN 2A have an identifiable mutation of the RET proto-oncogene on chromosome 10. This report describes a black South African woman with MEN 2A in whom a mutation of the RET proto-oncogene was identified. Current genetic knowledge and recent changes in clinical practice are presented, with specific reference to the other family members found to be carrying the mutant RET gene.
authors.affiliation: Department of Medicine, Baragwanath Hospital, Johannesburg.
authors.forename: M
authors.initials: M
authors.lastname: Hopley
authors.forename: K R
authors.initials: KR
authors.lastname: Huddle
mesh_terms: D000328:Adult; D044383:Black People / Q000235:genetics*; D029721:Drosophila Proteins; D005260:Female; D006801:Humans; D008297:Male; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / 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