Mutation Analysis of the BRCA1 Gene in Ovarian Cancers

Hiroyuki Takahashi, Kian Behbakht, Patricia E. McGovern, Hsiu Chiang Chiu, Fergus J. Couch, Barbara L. Weber, Lori S. Friedman, Mary Claire King, Masakuni Furusato, Virginia A. LiVolsi, Andrew W. Menzin, Paul C. Liu, Ivor Benjamin, Mark A. Morgan, Stephanie A. King, Beth Ann Rebane, Annmarie Cardonick, John J. Mikuta, Stephen C. Rubin, Jeff Boyd

Research output: Contribution to journalArticlepeer-review

199 Scopus citations


Germline mutations of the BRCA1 tumor suppressor gene on chromosome 17q are involved in a significant fraction of hereditary breast and ovarian cancers. Allelic deletions that include the BRCA1 locus are common in breast and ovarian cancers, implying that somatic mutations of this gene may play an important role in the more common sporadic forms of these tumors as well. The recent cloning of BRCA1 allows direct testing of this hypothesis. A combination of single strand conformation and sequencing analyses was used to examine the 22 coding exons and intronic splice donor and acceptor regions of BRCA1 for mutations in 115 un-selected cases of epithelial ovarian carcinoma. Seven mutations were identified, all of which were present in the germlines of patients with remarkable family or medical histories of breast and/or ovarian cancer. Eighty-nine of these tumors were examined for loss of heterozygosity in the BRCA1 region of chromosome 17q, and 67% of the tumors studied exhibited allelic deletions that included this region. These data are consistent with the hypothesis that BRCA1 mutations are involved in the etiology of hereditary ovarian carcinomas but occur rarely in sporadic tumors, and that the frequent allelic loss on chromosome 17q in this cancer type reflects the involvement of an additional tumor suppressor gene(s).

Original languageEnglish (US)
Pages (from-to)2998-3002
Number of pages5
JournalCancer research
Issue number14
StatePublished - Jul 15 1995

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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