Pathogenic BRCA1 mutations may be necessary but not sufficient for tissue genomic heterogeneity: Deep sequencing data from ovarian cancer patients.
作者： Vassiliki Kotoula , Sotirios Lakis , Ioannis Tikas , Eleni Giannoulatou , Georgios Lazaridis
DOI: 10.1016/J.YGYNO.2018.11.016
关键词:
摘要: Abstract Background Tissue genomic heterogeneity (t-HET) in patients with epithelial ovarian cancer (OVCA) is related to tissue plasticity, i.e., flexibility adapt adverse molecular environments. Here, we interrogated the presence and clinical relevance of OVCA t-HET. Methods We applied high-depth (>2000×) sequencing on 297 paraffin samples (fallopian tubes, ovaries, intra-abdominal metastases) from 71 treatment-naive who subsequently received first-line platinum-based chemotherapy. Based mutation patterns, distinguished genotypes into: no (33/297 samples; 11.1%), stable (173; 58.2%) unstable (91; 30.7%). profiled per patient assessed t-HET 69 patients. Predicted pathogenic mutations refer germline and/or tissues. Results Among all patients, 46 (64.8%) had BRCA1 15 (21.7%) BRCA1/2 disruption (i.e., position-LOH). classified 29 (42%), BRCA1; was observed 64% such (p Conclusions Pathogenic appear necessary but may not be sufficient for establishment associated worse outcome, including disrupted BRCA1/2, which usually considered as a favourable marker. need addressed treatment decisions.
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sci-hub.se 参考文章(40)
Lucy R Yates, Moritz Gerstung, Stian Knappskog, Christine Desmedt, Gunes Gundem, Peter Van Loo, Turid Aas, Ludmil B Alexandrov, Denis Larsimont, Helen Davies, Yilong Li, Young Seok Ju, Manasa Ramakrishna, Hans Kristian Haugland, Peer Kaare Lilleng, Serena Nik-Zainal, Stuart McLaren, Adam Butler, Sancha Martin, Dominic Glodzik, Andrew Menzies, Keiran Raine, Jonathan Hinton, David Jones, Laura J Mudie, Bing Jiang, Delphine Vincent, April Greene-Colozzi, Pierre-Yves Adnet, Aquila Fatima, Marion Maetens, Michail Ignatiadis, Michael R Stratton, Christos Sotiriou, Andrea L Richardson, Per Eystein Lønning, David C Wedge, Peter J Campbell, None, Subclonal diversification of primary breast cancer revealed by multiregion sequencing Nature Medicine. ,vol. 21, pp. 751- 759 ,(2015) , 10.1038/NM.3886
Ali Bashashati, Gavin Ha, Alicia Tone, Jiarui Ding, Leah M Prentice, Andrew Roth, Jamie Rosner, Karey Shumansky, Steve Kalloger, Janine Senz, Winnie Yang, Melissa McConechy, Nataliya Melnyk, Michael Anglesio, Margaret TY Luk, Kane Tse, Thomas Zeng, Richard Moore, Yongjun Zhao, Marco A Marra, Blake Gilks, Stephen Yip, David G Huntsman, Jessica N McAlpine, Sohrab P Shah, None, Distinct evolutionary trajectories of primary high-grade serous ovarian cancers revealed through spatial mutational profiling The Journal of Pathology. ,vol. 231, pp. 21- 34 ,(2013) , 10.1002/PATH.4230
Ann-Marie Patch, Elizabeth L Christie, Dariush Etemadmoghadam, Dale W Garsed, Joshy George, Sian Fereday, Katia Nones, Prue Cowin, Kathryn Alsop, Peter J Bailey, Karin S Kassahn, Felicity Newell, Michael CJ Quinn, Stephen Kazakoff, Kelly Quek, Charlotte Wilhelm-Benartzi, Ed Curry, Huei San Leong, Australian Ovarian Cancer Study Group, Anne Hamilton, Linda Mileshkin, George Au-Yeung, Catherine Kennedy, Jillian Hung, Yoke-Eng Chiew, Paul Harnett, Michael Friedlander, Michael Quinn, Jan Pyman, Stephen Cordner, Patricia O’Brien, Jodie Leditschke, Greg Young, Kate Strachan, Paul Waring, Walid Azar, Chris Mitchell, Nadia Traficante, Joy Hendley, Heather Thorne, Mark Shackleton, David K Miller, Gisela Mir Arnau, Richard W Tothill, Timothy P Holloway, Timothy Semple, Ivon Harliwong, Craig Nourse, Ehsan Nourbakhsh, Suzanne Manning, Senel Idrisoglu, Timothy JC Bruxner, Angelika N Christ, Barsha Poudel, Oliver Holmes, Matthew Anderson, Conrad Leonard, Andrew Lonie, Nathan Hall, Scott Wood, Darrin F Taylor, Qinying Xu, J Lynn Fink, Nick Waddell, Ronny Drapkin, Euan Stronach, Hani Gabra, Robert Brown, Andrea Jewell, Shivashankar H Nagaraj, Emma Markham, Peter J Wilson, Jason Ellul, Orla McNally, Maria A Doyle, Ravikiran Vedururu, Collin Stewart, Ernst Lengyel, John V Pearson, Nicola Waddell, Anna deFazio, Sean M Grimmond, David DL Bowtell, Whole-genome characterization of chemoresistant ovarian cancer Nature. ,vol. 521, pp. 489- 494 ,(2015) , 10.1038/NATURE14410
Roland F. Schwarz, Charlotte K. Y. Ng, Susanna L. Cooke, Scott Newman, Jillian Temple, Anna M. Piskorz, Davina Gale, Karen Sayal, Muhammed Murtaza, Peter J. Baldwin, Nitzan Rosenfeld, Helena M. Earl, Evis Sala, Mercedes Jimenez-Linan, Christine A. Parkinson, Florian Markowetz, James D. Brenton, Spatial and Temporal Heterogeneity in High-Grade Serous Ovarian Cancer: A Phylogenetic Analysis PLOS Medicine. ,vol. 12, pp. e1001789- ,(2015) , 10.1371/JOURNAL.PMED.1001789
R. A. Gatenby, J. J. Cunningham, J. S. Brown, Evolutionary triage governs fitness in driver and passenger mutations and suggests targeting never mutations Nature Communications. ,vol. 5, pp. 5499- 5499 ,(2014) , 10.1038/NCOMMS6499
H. Konishi, M. Mohseni, A. Tamaki, J. P. Garay, S. Croessmann, S. Karnan, A. Ota, H. Y. Wong, Y. Konishi, B. Karakas, K. Tahir, A. M. Abukhdeir, J. P. Gustin, J. Cidado, G. M. Wang, D. Cosgrove, R. Cochran, D. Jelovac, M. J. Higgins, S. Arena, L. Hawkins, J. Lauring, A. L. Gross, C. M. Heaphy, Y. Hosokawa, E. Gabrielson, A. K. Meeker, K. Visvanathan, P. Argani, K. E. Bachman, B. H. Park, Mutation of a single allele of the cancer susceptibility gene BRCA1 leads to genomic instability in human breast epithelial cells Proceedings of the National Academy of Sciences of the United States of America. ,vol. 108, pp. 17773- 17778 ,(2011) , 10.1073/PNAS.1110969108
Mel Greaves, Carlo C. Maley, Clonal evolution in cancer Nature. ,vol. 481, pp. 306- 313 ,(2012) , 10.1038/NATURE10762
Stacey L. Edwards, Rachel Brough, Christopher J. Lord, Rachael Natrajan, Radost Vatcheva, Douglas A. Levine, Jeff Boyd, Jorge S. Reis-Filho, Alan Ashworth, Resistance to therapy caused by intragenic deletion in BRCA2 Nature. ,vol. 451, pp. 1111- 1115 ,(2008) , 10.1038/NATURE06548
Wataru Sakai, Elizabeth M Swisher, Beth Y Karlan, Mukesh K Agarwal, Jake Higgins, Cynthia Friedman, Emily Villegas, Céline Jacquemont, Daniel J Farrugia, Fergus J Couch, Nicole Urban, Toshiyasu Taniguchi, Secondary mutations as a mechanism of cisplatin resistance in BRCA2 -mutated cancers Nature. ,vol. 451, pp. 1116- 1120 ,(2008) , 10.1038/NATURE06633
Maja Sedic, Adam Skibinski, Nelson Brown, Mercedes Gallardo, Peter Mulligan, Paula Martinez, Patricia J Keller, Eugene Glover, Andrea L Richardson, Janet Cowan, Amanda E Toland, Krithika Ravichandran, Harold Riethman, Stephen P Naber, Anders M Näär, Maria A Blasco, Philip W Hinds, Charlotte Kuperwasser, None, Haploinsufficiency for BRCA1 leads to cell-type-specific genomic instability and premature senescence Nature Communications. ,vol. 6, pp. 7505- 7505 ,(2015) , 10.1038/NCOMMS8505