RESEARCH BRIEF Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype

作者: A. Micheil Innes , Jeremy Schwartzentruber , Sarah L. Sawyer , Lisa A. Moreau , Roger A. Greenberg

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参考文章(26)
Hannah Farmer, Nuala McCabe, Christopher J. Lord, Andrew N. J. Tutt, Damian A. Johnson, Tobias B. Richardson, Manuela Santarosa, Krystyna J. Dillon, Ian Hickson, Charlotte Knights, Niall M. B. Martin, Stephen P. Jackson, Graeme C. M. Smith, Alan Ashworth, Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy Nature. ,vol. 434, pp. 917- 921 ,(2005) , 10.1038/NATURE03445
Chey Loveday, Clare Turnbull, Elise Ruark, Rosa Maria Munoz Xicola, Emma Ramsay, Deborah Hughes, Margaret Warren-Perry, Katie Snape, Breast Cancer Susceptibility Collaboration (BCSC)(UK), Diana Eccles, D Gareth Evans, Martin Gore, Anthony Renwick, Sheila Seal, Antonis C Antoniou, Nazneen Rahman, None, Germline RAD51C mutations confer susceptibility to ovarian cancer Nature Genetics. ,vol. 44, pp. 475- 476 ,(2012) , 10.1038/NG.2224
Juan I. Garaycoechea, K. J. Patel, Why does the bone marrow fail in Fanconi anemia Blood. ,vol. 123, pp. 26- 34 ,(2014) , 10.1182/BLOOD-2013-09-427740
Helen E. Bryant, Niklas Schultz, Huw D. Thomas, Kayan M. Parker, Dan Flower, Elena Lopez, Suzanne Kyle, Mark Meuth, Nicola J. Curtin, Thomas Helleday, Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase Nature. ,vol. 434, pp. 913- 917 ,(2005) , 10.1038/NATURE03443
Weidong Wang, Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins Nature Reviews Genetics. ,vol. 8, pp. 735- 748 ,(2007) , 10.1038/NRG2159
Molly C. Kottemann, Agata Smogorzewska, Fanconi anaemia and the repair of Watson and Crick DNA crosslinks Nature. ,vol. 493, pp. 356- 363 ,(2013) , 10.1038/NATURE11863
Derek W. Abbott, Marilyn E. Thompson, Cheryl Robinson-Benion, Gail Tomlinson, Roy A. Jensen, Jeffrey T. Holt, BRCA1Expression Restores Radiation Resistance inBRCA1-defective Cancer Cells through Enhancement of Transcription-coupled DNA Repair Journal of Biological Chemistry. ,vol. 274, pp. 18808- 18812 ,(1999) , 10.1074/JBC.274.26.18808
D. T. Long, M. Raschle, V. Joukov, J. C. Walter, Mechanism of RAD51-dependent DNA interstrand cross-link repair. Science. ,vol. 333, pp. 84- 87 ,(2011) , 10.1126/SCIENCE.1204258
Markus Räschle, Puck Knipscheer, Milica Enoiu, Todor Angelov, Jingchuan Sun, Jack D. Griffith, Tom E. Ellenberger, Orlando D. Schärer, Johannes C. Walter, Mechanism of replication-coupled DNA interstrand crosslink repair. Cell. ,vol. 134, pp. 969- 980 ,(2008) , 10.1016/J.CELL.2008.08.030
Alfons Meindl, Heide Hellebrand, Constanze Wiek, Verena Erven, Barbara Wappenschmidt, Dieter Niederacher, Marcel Freund, Peter Lichtner, Linda Hartmann, Heiner Schaal, Juliane Ramser, Ellen Honisch, Christian Kubisch, Hans E Wichmann, Karin Kast, Helmut Deißler, Christoph Engel, Bertram Müller-Myhsok, Kornelia Neveling, Marion Kiechle, Christopher G Mathew, Detlev Schindler, Rita K Schmutzler, Helmut Hanenberg, Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene Nature Genetics. ,vol. 42, pp. 410- 414 ,(2010) , 10.1038/NG.569