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. 1995 Oct;86(10):929–933. doi: 10.1111/j.1349-7006.1995.tb03003.x

Low Incidence of a Nucleotide Sequence Alteration of the Neurofibromatosis 2 Gene in Human Breast Cancers

Sadanori Yaegashi 1,2, Richard Sachse 1,†, Noriaki Ohuchi 2, Shozo Mori 2, Takao Sekiya 1,✉
PMCID: PMC5920597  PMID: 7493911

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.

Keywords: NF2gene, Human breast cancer, Mutation, SSCP analysis, Polymorphism

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