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Journal Article

A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1

Yoshio Miki, Jeff Swensen, Donna Shattuck-Eidens, P. Andrew Futreal, Keith Harshman, Sean Tavtigian, Qingyun Liu, Charles Cochran, L. Michelle Bennett, Wei Ding, Russell Bell, Judith Rosenthal, Charles Hussey, Thanh Tran, Melody McClure, Cheryl Frye, Tom Hattier, Robert Phelps, Astrid Haugen-Strano, Harold Katcher, Kazuko Yakumo, Zahra Gholami, Daniel Shaffer, Steven Stone, Steven Bayer, Christian Wray, Robert Bogden, Priya Dayananth, John Ward, Patricia Tonin, Steven Narod, Pam K. Bristow, Frank H. Norris, Leah Helvering, Paul Morrison, Paul Rosteck, Mei Lai, J. Carl Barrett, Cathryn Lewis, Susan Neuhausen, Lisa Cannon-Albright, David Goldgar, Roger Wiseman, Alexander Kamb and Mark H. Skolnick
Science
New Series, Vol. 266, No. 5182 (Oct. 7, 1994), pp. 66-71
Stable URL: http://www.jstor.org/stable/2884716
Page Count: 6
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A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1
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Abstract

A strong candidate for the 17q-linked BRCA1 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 BRCA1 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 BRCA1 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 BRCA1 should facilitate early diagnosis of breast and ovarian cancer susceptibility in some individuals as well as a better understanding of breast cancer biology.

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