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681
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682“…Current management of an asymptomatic BRCA mutation carrier includes early initiation and intensive cancer screening in combination with risk reduction strategies. …”
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683“…BACKGROUND: Mutation of amino acid sequences in a protein may have diverse effects on its structure and function. …”
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684por Ho, Allen S., Kannan, Kasthuri, Roy, David M., Morris, Luc G.T., Ganly, Ian, Katabi, Nora, Ramaswami, Deepa, Walsh, Logan A., Eng, Stephanie, Huse, Jason T., Zhang, Jianan, Dolgalev, Igor, Huberman, Kety, Heguy, Adriana, Viale, Agnes, Drobnjak, Marija, Leversha, Margaret A., Rice, Christine E., Singh, Bhuvanesh, Iyer, N. Gopalakrishna, Leemans, C. Rene, Bloemena, Elisabeth, Ferris, Robert L., Seethala, Raja R., Gross, Benjamin E., Liang, Yupu, Sinha, Rileen, Peng, Luke, Raphael, Benjamin J., Turcan, Sevin, Gong, Yongxing, Schultz, Nikolaus, Kim, Seungwon, Chiosea, Simion, Shah, Jatin P., Sander, Chris, Lee, William, Chan, Timothy A.“…These analyses revealed a low exonic somatic mutation rate (0.31 non-silent events/megabase) and wide mutational diversity. …”
Publicado 2013
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685
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686por Alexandrov, Ludmil B., Nik-Zainal, Serena, Wedge, David C., Aparicio, Samuel A.J.R., Behjati, Sam, Biankin, Andrew V., Bignell, Graham R., Bolli, Niccolo, Borg, Ake, Børresen-Dale, Anne-Lise, Boyault, Sandrine, Burkhardt, Birgit, Butler, Adam P., Caldas, Carlos, Davies, Helen R., Desmedt, Christine, Eils, Roland, Eyfjörd, Jórunn Erla, Foekens, John A., Greaves, Mel, Hosoda, Fumie, Hutter, Barbara, Ilicic, Tomislav, Imbeaud, Sandrine, Imielinsk, Marcin, Jäger, Natalie, Jones, David T.W., Jones, David, Knappskog, Stian, Kool, Marcel, Lakhani, Sunil R., López-Otín, Carlos, Martin, Sancha, Munshi, Nikhil C., Nakamura, Hiromi, Northcott, Paul A., Pajic, Marina, Papaemmanuil, Elli, Paradiso, Angelo, Pearson, John V., Puente, Xose S., Raine, Keiran, Ramakrishna, Manasa, Richardson, Andrea L., Richter, Julia, Rosenstiel, Philip, Schlesner, Matthias, Schumacher, Ton N., Span, Paul N., Teague, Jon W., Totoki, Yasushi, Tutt, Andrew N.J., Valdés-Mas, Rafael, van Buuren, Marit M., van ’t Veer, Laura, Vincent-Salomon, Anne, Waddell, Nicola, Yates, Lucy R., Zucman-Rossi, Jessica, Futreal, P. Andrew, McDermott, Ultan, Lichter, Peter, Meyerson, Matthew, Grimmond, Sean M., Siebert, Reiner, Campo, Elías, Shibata, Tatsuhiro, Pfister, Stefan M., Campbell, Peter J., Stratton, Michael R.“…All cancers are caused by somatic mutations. However, understanding of the biological processes generating these mutations is limited. …”
Publicado 2013
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687por Jones, James Owain, Chin, Suet-Feung, Wong-Taylor, Li-An, Leaford, Donna, Ponder, Bruce A. J., Caldas, Carlos, Maia, Ana-Teresa“…This is the first study to determine the importance of TOX3 mutations in breast cancers. We screened TOX3 for mutations in 133 breast tumours and identified four mutations (three missense, one in-frame deletion of 30 base pairs) in six primary tumours, corresponding to an overall mutation frequency of 4.5%. …”
Publicado 2013
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688“…Driver genes are most often identified by their recurrent mutations across tumor samples. However, some mutations are more important for protein function than others. …”
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689“…Diagnosis is based upon established major and minor clinical and radiographic criteria and gene mutation analysis. This article presents a case of Gorlin-Goltz syndrome, its genetic predisposition, diagnosis and management.…”
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690por Hagen, Christian M, Aidt, Frederik H, Havndrup, Ole, Hedley, Paula L, Jespersgaard, Cathrine, Jensen, Morten, Kanters, Jørgen K, Moolman-Smook, Johanna C, Møller, Daniel V, Bundgaard, Henning, Christiansen, MichaelEnlace del recurso
Publicado 2013
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691“…We identify network regions characteristic of each subtype and show how mutation-derived subtypes can be used to train an mRNA expression signature, which provides similar information in the absence of DNA sequence. …”
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692“…Most nonsynonymous mutations are thought to be deleterious because of their effect on protein sequence and are expected to be removed or kept at low frequency by the action of natural selection. …”
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693por Hagen, Christian M, Aidt, Frederik H, Havndrup, Ole, Hedley, Paula L, Jespersgaard, Cathrine, Jensen, Morten, Kanters, Jørgen K, Moolman-Smook, Johanna C, Møller, Daniel V, Bundgaard, Henning, Christiansen, Michael“…We hypothesized that MT-CYB mutations might play an important causal or modifying role in HCM. …”
Publicado 2013
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694
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695“…BACKGROUND: Experimental research on the automatic extraction of information about mutations from texts is greatly hindered by the lack of consensus evaluation infrastructure for the testing and benchmarking of mutation text mining systems. …”
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696por Zhang, Zi-Chen, Fu, Sha, Wang, Fang, Wang, Hai-Yun, Zeng, Yi-Xin, Shao, Jian-Yong“…In 123 patients, 21 (17.1%) NPC tumors were positive for mutations in eight oncogenes: six patients had PIK3CA mutations (4.9%), five NRAS mutations (4.1%), four KIT mutations (3.3%), two PDGFRA mutations (1.6%), two ABL mutations (1.6%), and one with simultaneous mutations in HRAS, EGFR, and BRAF (1%). …”
Publicado 2014
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697por Sand, Philipp G.Enlace del recurso
Publicado 2014
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698“…In large collections of tumor samples, it has been observed that sets of genes that are commonly involved in the same cancer pathways tend not to occur mutated together in the same patient. Such gene sets form mutually exclusive patterns of gene alterations in cancer genomic data. …”
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699“…Yeast models have shown that mutations in the exonuclease domain of Pol δ and Pol ɛ homologues can cause a mutator phenotype. …”
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700por Siggs, Owen M“…Although mutation and natural selection have given rise to our immune system, a well-placed mutation can also cripple it, and within an expanding population we are recognizing more and more cases of single-gene mutations that compromise immunity. …”
Publicado 2014
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