title: Low incidence of a nucleotide sequence alteration of the neurofibromatosis 2 gene in human breast cancers.
abstract: We investigated aberrations of the neurofibromatosis type 2 (NF2) gene in breast tumors of 60 patients by single-strand conformation polymorphism analysis of polymerase chain reaction products followed by nucleotide sequencing. We detected a tumor-specific single-base substitution in codon 398 in exon 12 of the gene, resulting in an alteration of a single amino acid, in DNA from a breast cancer sample. The results indicated possible but infrequent involvement of mutations of the tumor suppressor NF2 gene in human breast cancers.
mesh_terms: D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22; D017931:DNA Primers / Q000737:chemistry; D004273:DNA, Neoplasm / Q000235:genetics; D005091:Exons; D016515:Genes, Neurofibromatosis 2; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D017931:DNA Primers; D004273:DNA, Neoplasm