Genetik des familiären Brust- und Eierstockkrebses
作者： A. Meindl , E. Hahnen , N. Arnold
DOI: 10.1007/S00129-014-3346-8
关键词: Gynecology 、 Medicine
摘要: Hintergrund Neuere Ergebnisse belegen, dass das hereditare Mamma- und Ovarialkarzinom eine extreme genetische Heterogenitat aufweist – aktuell sind neben BRCA1 BRCA2 bereits mehr als 10 Hochrisiko- bzw. Risikogene bekannt, die etwa ein Drittel aller familiaren Falle erklaren konnen. Zusatzlich werden standig sog. oligogene Komponenten identifiziert, eventuell weitere 10–15 % der BRCA1/2-negativen konnten.
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sci-hub.se 参考文章(21)
Carla Oliveira, Hugo Pinheiro, Joana Figueiredo, Raquel Seruca, Fátima Carneiro, E-cadherin alterations in hereditary disorders with emphasis on hereditary diffuse gastric cancer. Progress in Molecular Biology and Translational Science. ,vol. 116, pp. 337- 359 ,(2013) , 10.1016/B978-0-12-394311-8.00015-7
F Coulet, A Fajac, C Colas, M Eyries, A Dion-Minière, R Rouzier, S Uzan, J-P Lefranc, M Carbonnel, F Cornelis, A Cortez, F Soubrier, Germline RAD51C mutations in ovarian cancer susceptibility Clinical Genetics. ,vol. 83, pp. 332- 336 ,(2013) , 10.1111/J.1399-0004.2012.01917.X
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
Anneka Wickramanyake, Greta Bernier, Christopher Pennil, Silvia Casadei, Kathy J. Agnew, Sunday M. Stray, Jessica Mandell, Rochelle L. Garcia, Tom Walsh, Mary-Claire King, Elizabeth M. Swisher, Loss of function germline mutations in RAD51D in women with ovarian carcinoma Gynecologic Oncology. ,vol. 127, pp. 552- 555 ,(2012) , 10.1016/J.YGYNO.2012.09.009
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
Ella R. Thompson, Maria A. Doyle, Georgina L. Ryland, Simone M. Rowley, David Y. H. Choong, Richard W. Tothill, Heather Thorne, Daniel R. Barnes, Jason Li, Jason Ellul, Gayle K. Philip, Yoland C. Antill, Paul A. James, Alison H. Trainer, Gillian Mitchell, Ian G. Campbell, , Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLOS Genetics. ,vol. 8, ,(2012) , 10.1371/JOURNAL.PGEN.1002894
Clare Turnbull, Shahana Ahmed, Jonathan Morrison, David Pernet, Anthony Renwick, Mel Maranian, Sheila Seal, Maya Ghoussaini, Sarah Hines, Catherine S Healey, Deborah Hughes, Margaret Warren-Perry, William Tapper, Diana Eccles, D Gareth Evans, Breast Cancer Susceptibility Collaboration (UK), Maartje Hooning, Mieke Schutte, Ans van den Ouweland, Richard Houlston, Gillian Ross, Cordelia Langford, Paul DP Pharoah, Michael R Stratton, Alison M Dunning, Nazneen Rahman, Douglas F Easton, None, Genome-wide association study identifies five new breast cancer susceptibility loci Nature Genetics. ,vol. 42, pp. 504- 507 ,(2010) , 10.1038/NG.586
Mandell JB King MC1, Marks JH, New York Breast Cancer Study Group., None, Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. ,vol. 302, pp. 643- 646 ,(2003) , 10.1126/SCIENCE.1088759
D.J. Park, F. Lesueur, T. Nguyen-Dumont, M. Pertesi, F. Odefrey, F. Hammet, S.L. Neuhausen, E.M. John, I.L. Andrulis, M.B. Terry, M. Daly, S. Buys, F. Le Calvez-Kelm, A. Lonie, B.J. Pope, H. Tsimiklis, C. Voegele, F.M. Hilbers, N. Hoogerbrugge, A. Barroso, A. Osorio, G.G. Giles, P. Devilee, J. Benitez, J.L. Hopper, S.V. Tavtigian, D.E. Goldgar, M.C. Southey, Rare mutations in XRCC2 increase the risk of breast cancer American Journal of Human Genetics. ,vol. 90, pp. 734- 739 ,(2012) , 10.1016/J.AJHG.2012.02.027
Stian Knappskog, Ranjan Chrisanthar, Erik Løkkevik, Gun Anker, Bjørn Østenstad, Steinar Lundgren, Terje Risberg, Ingvil Mjaaland, Beryl Leirvaag, Hrvoje Miletic, Per E Lønning, Low expression levels of ATM may substitute for CHEK2 /TP53 mutations predicting resistance towards anthracycline and mitomycin chemotherapy in breast cancer Breast Cancer Research. ,vol. 14, pp. 1- 12 ,(2012) , 10.1186/BCR3147