title: A large germline deletion of the MEN1 gene in a family with multiple endocrine neoplasia type 1.
abstract: Multiple endocrine neoplasia type 1 (MEN1) is a familial cancer syndrome inherited as an autosomal dominant trait. Various heterozygous germline mutations of the responsible gene, MEN1, have been identified within its exons in many, but not all, affected individuals. We here demonstrate, by DNA polymorphism analysis and gene dosage analysis with polymerase chain reaction (PCR), a large heterozygous germline MEN1 deletion in a kindred with MEN1, in whom no mutation could be detected in the PCR-amplified exons. The deletion spanned an at least 7 kb region containing the entire MEN1 gene. These findings indicate that a large germline deletion of the MEN1 gene, which escapes detection in PCR-based sequence analysis, should be considered as a potential cause of MEN1.
authors.affiliation: Growth Factor Division, National Cancer Center Research Institute, Tokyo.
authors.forename: M
authors.initials: M
authors.lastname: Kishi
authors.forename: T
authors.initials: T
authors.lastname: Tsukada
authors.forename: S
authors.initials: S
authors.lastname: Shimizu
authors.forename: H
authors.initials: H
authors.lastname: Futami
authors.forename: Y
authors.initials: Y
authors.lastname: Ito
authors.forename: M
authors.initials: M
authors.lastname: Kanbe
authors.forename: T
authors.initials: T
authors.lastname: Obara
authors.forename: K
authors.initials: K
authors.lastname: Yamaguchi
mesh_terms: D002872:Chromosome Deletion; D005260:Female; D017353:Gene Deletion; D018628:Gene Dosage; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011518:Proto-Oncogene Proteins
chemical_list: C105373:MEN1 protein, human; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins