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Science 7 October 1994:
Vol. 266. no. 5182, pp. 66 - 71
DOI: 10.1126/science.7545954
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Articles

Science, Vol 266, Issue 5182, 66-71
Copyright © 1994 by American Association for the Advancement of Science

articles

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

Y Miki, J Swensen, D Shattuck-Eidens, PA Futreal, K Harshman, S Tavtigian, Q Liu, C Cochran, LM Bennett, W Ding, and al. et

Department of Medical Informatics, University of Utah Medical Center, Salt Lake City 84132.

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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S. I. Brandt-Rauf, V. H. Raveis, N. F. Drummond, J. A. Conte, and S. M. Rothman (2006)
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ASCO/SSO Review of Current Role of Risk-Reducing Surgery in Common Hereditary Cancer Syndromes.
J. G. Guillem, W. C. Wood, J. F. Moley, A. Berchuck, B. Y. Karlan, D. G. Mutch, R. F. Gagel, J. Weitzel, M. Morrow, B. L. Weber, et al. (2006)
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J. G. Guillem, W. C. Wood, J. F. Moley, A. Berchuck, B. Y. Karlan, D. G. Mutch, R. F. Gagel, J. Weitzel, M. Morrow, B. L. Weber, et al. (2006)
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S. S. Kim, L. Cao, S.-C. Lim, C. Li, R.-H. Wang, X. Xu, R. Bachelier, and C.-X. Deng (2006)
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P. Lei, M. Abdelrahim, and S. Safe (2006)
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Z. Kote-Jarai, L. Matthews, A. Osorio, S. Shanley, I. Giddings, F. Moreews, I. Locke, D. G. Evans, D. Eccles, The Carrier Clinic Collaborators, et al. (2006)
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H. J. Kang, H. J. Kim, S. K. Kim, R. Barouki, C.-H. Cho, K. K. Khanna, E. M. Rosen, and I. Bae (2006)
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X. Chen, C. A. Arciero, C. Wang, D. Broccoli, and A. K. Godwin (2006)
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B. P. Schlegel, F. M. Jodelka, and R. Nunez (2006)
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H. J. Kang, H. J. Kim, J.-K. Rih, T. L. Mattson, K. W. Kim, C.-H. Cho, J. S. Isaacs, and I. Bae (2006)
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Disparities in Genetic Testing: Thinking Outside the BRCA Box.
M. J. Hall and O. I. Olopade (2006)
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ATM Activation by Ionizing Radiation Requires BRCA1-associated BAAT1.
J. A. Aglipay, S. A. Martin, H. Tawara, S. W. Lee, and T. Ouchi (2006)
J. Biol. Chem. 281, 9710-9718
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Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.
S V Tavtigian, A M Deffenbaugh, L Yin, T Judkins, T Scholl, P B Samollow, D de Silva, A Zharkikh, and A Thomas (2006)
J. Med. Genet. 43, 295-305
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DNA Damage-Induced Protein 14-3-3 {sigma} Inhibits Protein Kinase B/Akt Activation and Suppresses Akt-Activated Cancer..
H. Yang, Y.-Y. Wen, R. Zhao, Y.-L. Lin, K. Fournier, H.-Y. Yang, Y. Qiu, J. Diaz, C. Laronga, and M.-H. Lee (2006)
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Carcinogenesis 27, 517-524
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S. Colilla, P. W. Kantoff, S. L. Neuhausen, A. K. Godwin, M. B. Daly, S. A. Narod, J. E. Garber, H. T. Lynch, M. Brown, B. L. Weber, et al. (2006)
Carcinogenesis 27, 599-605
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Cell Type and Culture Condition-Dependent Alternative Splicing in Human Breast Cancer Cells Revealed by Splicing-Sensitive Microarrays.
C. Li, M. Kato, L. Shiue, J. E. Shively, M. Ares Jr., and R.-J. Lin (2006)
Cancer Res. 66, 1990-1999
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BRCA1 Affects Lipid Synthesis through Its Interaction with Acetyl-CoA Carboxylase.
K. Moreau, E. Dizin, H. Ray, C. Luquain, E. Lefai, F. Foufelle, M. Billaud, G. M. Lenoir, and N. D. Venezia (2006)
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Qual Health Res 16, 97-118
   Abstract »    PDF »
The Breast Cancer Susceptibility Gene BRCA1 Regulates Progesterone Receptor Signaling in Mammary Epithelial Cells.
Y. Ma, P. Katiyar, L. P. Jones, S. Fan, Y. Zhang, P. A. Furth, and E. M. Rosen (2006)
Mol. Endocrinol. 20, 14-34
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Tumor suppressor genetics.
S. R. Payne and C. J. Kemp (2005)
Carcinogenesis 26, 2031-2045
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BRCA1 and c-Myc Associate to Transcriptionally Repress Psoriasin, a DNA Damage-Inducible Gene.
R. D. Kennedy, J. J. Gorski, J. E. Quinn, G. E. Stewart, C. R. James, S. Moore, K. Mulligan, E. D. Emberley, T. F. Lioe, P. J. Morrison, et al. (2005)
Cancer Res. 65, 10265-10272
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Recruiting African American Women to Participate in Hereditary Breast Cancer Research.
C. H. Halbert, K. Brewster, A. Collier, C. Smith, L. Kessler, B. Weathers, J. E. Stopfer, S. Domchek, and E. P. Wileyto (2005)
J. Clin. Oncol. 23, 7967-7973
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Immunohistochemical Expression of DNA Repair Proteins in Familial Breast Cancer Differentiate BRCA2-Associated Tumors.
E. Honrado, A. Osorio, J. Palacios, R. L. Milne, L. Sanchez, O. Diez, A. Cazorla, K. Syrjakoski, D. Huntsman, P. Heikkila, et al. (2005)
J. Clin. Oncol. 23, 7503-7511
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Genetic Testing in an Ethnically Diverse Cohort of High-Risk Women: A Comparative Analysis of BRCA1 and BRCA2 Mutations in American Families of European and African Ancestry.
R. Nanda, L. P. Schumm, S. Cummings, J. D. Fackenthal, L. Sveen, F. Ademuyiwa, M. Cobleigh, L. Esserman, N. M. Lindor, S. L. Neuhausen, et al. (2005)
JAMA 294, 1925-1933
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