Identification of the breast cancer susceptibility gene BRCA2

Wooster, Richard, Bignell, Graham, Lancaster, Jonathan, Swift, Sally, Seal, Sheila, Mangion, Jonathan, Collins, Nadine, Gregory, Simon, Gumbs, Curtis, Micklem, Gos, Barfoot, Rita, Hamoudi, Rifat, Patel, Sandeep, Rices, Catherine, Biggs, Patrick, Hashim, Yasmin, Smith, Amanda, Connor, Frances, Arason, Adalgeir, Gudmundsson, Julius, Ficenec, David, Kelsell, David, Ford, Deborah, Tonin, Patricia, Timothy Bishop, D., Spurr, Nigel K., Ponder, Bruce A. J., Eeles, Rosalind, Peto, Julian, Devilee, Peter, Cornelisse, Cees, Lynch, Henry, Narod, Steven, Lenoir, Gilbert, Egilsson, Valdgardur, Bjork Barkadottir, Rosa, Easton, Douglas F., Bentley, David R., Futreal, P. Andrew, Ashworth, Alan, Stratton, Michael R.·1995·Nature

DOI 10.1038/378789a0

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Easton, D. F., Pooley, K. A., Dunning, A. M., Pharoah, P. D. P., Thompson, D., Ballinger, D. G., Struewing, J. P., Morrison, J., Field, H., Luben, R., et al. (2007) · Nature · doi:10.1038/nature05887 · Cited by 2,319
Self-citation
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Helleday, T., Petermann, E., Lundin, C., Hodgson, B., & Sharma, R. A. (2008) · Nature Reviews Cancer · doi:10.1038/nrc2342 · Cited by 1,666
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Tutt, A., Robson, M., Garber, J. E., Domchek, S. M., Audeh, M. W., Weitzel, J. N., Friedlander, M., Arun, B., Loman, N., Schmutzler, R. K., et al. (2010) · The Lancet · doi:10.1016/s0140-6736(10)60892-6 · Cited by 1,655
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Botstein, D., & Risch, N. (2003) · Nature Genetics · doi:10.1038/ng1090 · Cited by 1,503
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Zhang, J., Walsh, M. F., Wu, G., Edmonson, M. N., Gruber, T. A., Easton, J., Hedges, D., Ma, X., Zhou, X., Yergeau, D. A., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1508054 · Cited by 1,345
State-of-the-art strategies for targeting the DNA damage response in cancer
Pilié, P. G., Tang, C., Mills, G. B., & Yap, T. A. (2019) · Nature Reviews Clinical Oncology · doi:10.1038/s41571-018-0114-z · Cited by 1,189
Requirement of ATM-Dependent Phosphorylation of Brca1 in the DNA Damage Response to Double-Strand Breaks
Cortez, D., Wang, Y., Qin, J., & Elledge, S. J. (1999) · Science · doi:10.1126/science.286.5442.1162 · Cited by 1,020
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BRCA1 and BRCA2: 1994 and beyond
Narod, S. A., & Foulkes, W. D. (2004) · Nature Reviews Cancer · doi:10.1038/nrc1431 · Cited by 967
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Meijers-Heijboer, H., van Geel, B., van Putten, W. L. J., Henzen-Logmans, S. C., Seynaeve, C., Menke-Pluymers, M. B. E., Bartels, C. C. M., Verhoog, L. C., van den Ouweland, A. M. W., Niermeijer, M. F., et al. (2001) · New England Journal of Medicine · doi:10.1056/nejm200107193450301 · Cited by 973
Recommendations for Follow-up Care of Individuals With an Inherited Predisposition to Cancer: II. BRCA1 and BRCA2
Burke, W. (1997) · JAMA · doi:10.1001/jama.277.12.997 · Cited by 955
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Henderson, B. E., & Feigelson, H. S. (2000) · Carcinogenesis · doi:10.1093/carcin/21.3.427 · Cited by 821
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Yoshida, K., & Miki, Y. (2004) · Cancer Science · doi:10.1111/j.1349-7006.2004.tb02195.x · Cited by 753
Purified human BRCA2 stimulates RAD51-mediated recombination
Jensen, R. B., Carreira, A., & Kowalczykowski, S. C. (2010) · Nature · doi:10.1038/nature09399 · Cited by 715
Multifactorial Analysis of Differences Between Sporadic Breast Cancers and Cancers Involving BRCA1 and BRCA2 Mutations
Lakhani, S. R., Jacquemier, J., Sloane, J. P., Gusterson, B. A., Anderson, T. J., van de Vijver, M. J., Farid, L. M., Venter, D., Antoniou, A., Storfer-Isser, A., et al. (1998) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/90.15.1138 · Cited by 707
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Zhou, H., Sehl, M. E., Sinsheimer, J. S., & Lange, K. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq448 · Cited by 137
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Park, J.-Y., Singh, T. R., Nassar, N., Zhang, F., Freund, M., Hanenberg, H., Meetei, A. R., & Andreassen, P. R. (2014) · Oncogene · doi:10.1038/onc.2013.421 · Cited by 130
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Solomon, S., Das, S., Brand, R., & Whitcomb, D. C. (2012) · The Cancer Journal · doi:10.1097/ppo.0b013e318278c4a6 · Cited by 120
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Zhao, T., & Schranz, M. E. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1801757116 · Cited by 120
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Ringwald, J., Wochnowski, C., Bosse, K., Giel, K. E., Schäffeler, N., Zipfel, S., & Teufel, M. (2016) · Journal of Genetic Counseling · doi:10.1007/s10897-016-9949-6 · Cited by 114
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Authors: Wooster, R., Bignell, G., Lancaster, J., Swift, S., Seal, S., Mangion, J., Collins, N., Gregory, S., Gumbs, C., Micklem, G., Barfoot, R., Hamoudi, R., Patel, S., Rices, C., Biggs, P., Hashim, Y., Smith, A., Connor, F., Arason, A., Gudmundsson, J., Ficenec, D., Kelsell, D., Ford, D., Tonin, P., Timothy Bishop, D., Spurr, N. K., Ponder, B. A. J., Eeles, R., Peto, J., Devilee, P., Cornelisse, C., Lynch, H., Narod, S., Lenoir, G., Egilsson, V., Bjork Barkadottir, R., Easton, D. F., Bentley, D. R., Futreal, P. A., Ashworth, A., & Stratton, M. R.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 1995-12
Volume: 378
Issue: 6559
Pages: 789-792
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/378789a0
OpenAlex: W2030093162
Cited by: 3,645
References: 0
FWCI: 74.22
Type: journal article
Language: en
Open access: closed

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