A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene <i>BRCA1</i>

  • Yoshio Miki
    Department of Medical Informatics, University of Utah Medical Center, Salt Lake City, UT 84132, USA.
  • Jeff Swensen
    Department of Medical Informatics, University of Utah Medical Center, Salt Lake City, UT 84132, USA.
  • Donna Shattuck-Eidens
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • P. Andrew Futreal
    Laboratory of Molecular Carcinogenesis, National Institute of Environmental Health Sciences, National Institutes of Health, Research Trangle Park, NC 27709, USA.
  • Keith Harshman
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • Sean Tavtigian
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • Qingyun Liu
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • Charles Cochran
    Laboratory of Molecular Carcinogenesis, National Institute of Environmental Health Sciences, National Institutes of Health, Research Trangle Park, NC 27709, USA.
  • L. Michelle Bennett
    Laboratory of Molecular Carcinogenesis, National Institute of Environmental Health Sciences, National Institutes of Health, Research Trangle Park, NC 27709, USA.
  • Wei Ding
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • Russell Bell
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • Judith Rosenthal
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • Charles Hussey
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • Thanh Tran
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • Melody McClure
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • Cheryl Frye
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • Tom Hattier
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • Robert Phelps
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • Astrid Haugen-Strano
    Laboratory of Molecular Carcinogenesis, National Institute of Environmental Health Sciences, National Institutes of Health, Research Trangle Park, NC 27709, USA.
  • Harold Katcher
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • Kazuko Yakumo
    Department of Medical Informatics, University of Utah Medical Center, Salt Lake City, UT 84132, USA.
  • Zahra Gholami
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • Daniel Shaffer
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • Steven Stone
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • Steven Bayer
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • Christian Wray
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • Robert Bogden
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • Priya Dayananth
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • John Ward
    Department of Internal Medicine, University of Utah Medical Center, Salt Lake City, UT 84132, USA..
  • Patricia Tonin
    Department of Medical Genetics, McGill University, Montreal, Quebec, H3G 1A4, Canada..
  • Steven Narod
    Department of Medical Genetics, McGill University, Montreal, Quebec, H3G 1A4, Canada..
  • Pam K. Bristow
    Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, IN 46285, USA.
  • Frank H. Norris
    Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, IN 46285, USA.
  • Leah Helvering
    Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, IN 46285, USA.
  • Paul Morrison
    Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, IN 46285, USA.
  • Paul Rosteck
    Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, IN 46285, USA.
  • Mei Lai
    Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, IN 46285, USA.
  • J. Carl Barrett
    Laboratory of Molecular Carcinogenesis, National Institute of Environmental Health Sciences, National Institutes of Health, Research Trangle Park, NC 27709, USA.
  • Cathryn Lewis
    Department of Medical Informatics, University of Utah Medical Center, Salt Lake City, UT 84132, USA.
  • Susan Neuhausen
    Department of Medical Informatics, University of Utah Medical Center, Salt Lake City, UT 84132, USA.
  • Lisa Cannon-Albright
    Department of Internal Medicine, University of Utah Medical Center, Salt Lake City, UT 84132, USA..
  • David Goldgar
    Department of Medical Informatics, University of Utah Medical Center, Salt Lake City, UT 84132, USA.
  • Roger Wiseman
    Laboratory of Molecular Carcinogenesis, National Institute of Environmental Health Sciences, National Institutes of Health, Research Trangle Park, NC 27709, USA.
  • Alexander Kamb
    Myriad Genetics, Salt Lake City, UT 84108, USA.
  • Mark H. Skolnick
    Department of Medical Informatics, University of Utah Medical Center, Salt Lake City, UT 84132, USA.

書誌事項

公開日
1994-10-07
DOI
  • 10.1126/science.7545954
公開者
American Association for the Advancement of Science (AAAS)

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説明

<jats:p> A strong candidate for the 17q-linked <jats:italic>BRCA1</jats:italic> gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods. Probable predisposing mutations have been detected in five of eight kindreds presumed to segregate <jats:italic>BRCA1</jats:italic> susceptibility alleles. The mutations include an 11-base pair deletion, a 1-base pair insertion, a stop codon, a missense substitution, and an inferred regulatory mutation. The <jats:italic>BRCA1</jats:italic> gene is expressed in numerous tissues, including breast and ovary, and encodes a predicted protein of 1863 amino acids. This protein contains a zinc finger domain in its amino-terminal region, but is otherwise unrelated to previously described proteins. Identification of <jats:italic>BRCA1</jats:italic> should facilitate early diagnosis of breast and ovarian cancer susceptibility in some individuals as well as a better understanding of breast cancer biology. </jats:p>

収録刊行物

  • Science

    Science 266 (5182), 66-71, 1994-10-07

    American Association for the Advancement of Science (AAAS)

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