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

Yoshio Miki; Jeffrey Swensen; Donna Shattuck-Eidens; P. Andrew Futreal; Keith Harshman; Sean V. Tavtigian; Qingyun Liu; Charles Cochran; L. Michelle Bennett; Wei Ding; Russell Bell; Judith Rosenthal; Charles E. Hussey; Thanh V. Tran; Melody McClure; Cheryl A. Frye; Tom Hattier; Robert Phelps; Astrid C. Haugen; Harold L. Katcher; Kazuko Yakumo; Zahra Gholami; Daniel J. Shaffer; Steven Stone; Steven R Bayer; Christian Wray; Robert Bogden; Priya Dayananth; John H. Ward; Patricia N. Tonin; Steven A. Narod; Pam K. Bristow; Frank H. Norris; Leah M. Helvering; P. Morrison; Paul R. Rosteck; Mei Lai; J. Carl Barrett; Cathryn M. Lewis; Susan L. Neuhausen; Lisa Cannon‐Albright; David E. Goldgar; Roger W. Wiseman; Alexander Kamb; Mark H. Skolnick

doi:10.1126/science.7545954

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.

Keywords

Missense mutationGeneGeneticsOvarian cancerBiologyPositional cloningMutationAlleleBreast cancerZinc fingerCancerPhenotypeCancer researchTranscription factor

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Publication Info

Year: 1994
Type: article
Volume: 266
Issue: 5182
Pages: 66-71
Citations: 6039
Access: Closed

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APA Style

                            
                                
                                    Yoshio Miki, 
                                
                                    Jeffrey Swensen, 
                                
                                    Donna Shattuck-Eidens
                                
                                et al.
                            
                            (1994). 
                            A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene <i>BRCA1</i>. 
                            Science
                            , 266
                            (5182)
                            , 66-71.
                            https://doi.org/10.1126/science.7545954
                        

Identifiers

DOI: 10.1126/science.7545954