Evaluation of the diagnostic accuracy of the stop codon (SC) assay for identifying protein-truncating mutations in the BRCA1 and BRCA2 genes in familial breast cancer

Masato Sakayori, Masanori Kawahara, Kazuko Shiraishi, Tadashi Nomizu, Akira Shimada, Toshio Kudo, Rikiya Abe, Noriaki Ohuchi, Seiichi Takenoshita, Ryunosuke Kanamaru, Chikashi Ishioka

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Screening for protein-truncating mutations of the BRCA1 and BRCA2 genes is useful in genetic testing for familial breast cancer because, first, the methods are usually simple and not expensive, and second, the detected mutations indicate pathogenic mutations in general. We evaluated the diagnostic accuracy of the stop codon (SC) assay for detecting protein-truncating mutations in the BRCA1 and BRCA2 genes by comparing the results with DNA sequencing in samples from 29 patients with breast cancer from 24 Japanese families with a history of breast cancer. Protein-truncating mutations were detected in 5 of the 24 families (20.8%; two in the BRCA1 gene and three in the BRCA2 gene). Among the 176 DNA fragments examined using the SC assay, the existence of three protein-truncating mutations (one in the BRCA1 gene and two in the BRCA2 gene) was predicted correctly by the assay. Only one reverse transcriptase-polymerase chain reaction fragment was positive for the SC assay but was negative using DNA sequencing. Our study showed clearly that the SC assay is sensitive (3 of 3, 100%) and specific (172 of 173, 99%) for detecting pathogenic protein-truncating mutations in the BRCA1 and BRCA2 genes, and that it could be useful for screening larger populations.

Original languageEnglish
Pages (from-to)130-137
Number of pages8
JournalJournal of Human Genetics
Volume48
Issue number3
DOIs
Publication statusPublished - 2003
Externally publishedYes

Keywords

  • BRCA1
  • BRCA2
  • Familial breast cancer
  • Genetic testing
  • Stop codon assay

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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