Low incidence of a nucleotide sequence alteration of the neurofibromatosis 2 gene in human breast cancers.

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.