Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

Grundy, Richard; Shlien, Adam; Campbell, Brittany B.; de Borja, Richard; Alexandrov, Ludmil B.; Merico, Daniele; Wedge, David; Van Loo, Peter; Tarpey, Patrick S.; Coupland, Paul; Behjati, Sam; Pollett, Aaron; Lipman, Tatiana; Heidari, Abolfazl; Deshmukh, Shriya; Avitzur, Na'ama; Meier, Bettina; Gerstung, Moritz; Hong, Ye; Merino, Diana M.; Ramakrishna, Manasa; Remke, Marc; Arnold, Roland; Panigrahi, Gagan B.; Thakkar, Neha P.; Hodel, Karl P.; Henninger, Erin E.; Yasemin G�ksenin, A.; Bakry, Doua; Charames, George S.; Druker, Harriet; Lerner-Ellis, Jordan; Mistry, Matthew; Dvir, Rina; Grant, Ronald; Elhasid, Ronit; Farah, Roula; Taylor, Glenn P.; Nathan, Paul C.; Alexander, Sarah; Ben-Shachar, Shay; Ling, Simon C.; Gallinger, Steven; Constantini, Shlomi; Dirks, Peter; Huang, Annie; Scherer, Stephen W.; Durno, Carol; Aronson, Melyssa; Gartner, Anton; Stephen Meyn, M.; Taylor, Michael D.; Pursell, Zachary F.; Pearson, Christopher E.; Malkin, David; Andrew Futreal, P.; Stratton, Michael R.; Bouffet, Eric; Hawkins, Cynthia; Campbell, Peter J.; Tabori, Uri

doi:10.1038/ng.3202

All Outputs (4)

microRNA network analysis identifies miR-29 cluster as key regulator of LAMA2 in ependymoma (2015)
Journal Article
Lourdusamy, A., Rahman, R., Smith, S. J., & Grundy, R. G. (2015). microRNA network analysis identifies miR-29 cluster as key regulator of LAMA2 in ependymoma. Acta Neuropathologica Communications, 3(26), https://doi.org/10.1186/s40478-015-0206-2

Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis (2015)
Journal Article
Grundy, R., Torchia, J., Picard, D., Lafay-Cousin, L., Hawkins, C. E., Kim, S., … Huang, D. A. (2015). Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis. Lancet Oncology, 16(5), 569-582. https://doi.org/10.1016/S1470-2045%2815%2970114-2

Background Rhabdoid brain tumours, also called atypical teratoid rhabdoid tumours, are lethal childhood cancers with characteristic genetic alterations of SMARCB1/hSNF5. Lack of biological understanding of the substantial clinical heterogeneity of t... Read More about Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis.

Expression alterations define unique molecular characteristics of spinal ependymomas (2015)
Journal Article
Lourdusamy, A., Rahman, R., & Grundy, R. G. (2015). Expression alterations define unique molecular characteristics of spinal ependymomas. Oncotarget, 6(23), https://doi.org/10.18632/oncotarget.3715

Ependymomas are glial tumors that originate in either intracranial or spinal regions. Although tumors from different regions are histologically similar, they are biologically distinct. We therefore sought to identify molecular characteristics of spin... Read More about Expression alterations define unique molecular characteristics of spinal ependymomas.

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers (2015)
Journal Article
Grundy, R., Shlien, A., Campbell, B. B., de Borja, R., Alexandrov, L. B., Merico, D., …Tabori, U. (2015). Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers. Nature Genetics, 47(3), 257-262. https://doi.org/10.1038/ng.3202

DNA replication?associated mutations are repaired by two components: polymerase proofreading and mismatch repair. The mutation consequences of disruption to both repair components in humans are not well studied. We sequenced cancer genomes from child... Read More about Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.