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121“…BACKGROUND: Mutation rates are consistently varied in cancer genome and play an important role in tumorigenesis, however, little has been known about their function potential and impact on the distribution of functional mutations. …”
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122“…Our recent whole-genome sequencing study focusing on lower cytogenetic risk CLL demonstrated that CLL mutations can be attributed to 3 key mutational processes—2 types of activation induced-cytidine deaminase (AID) signatures and an aging signature—that operate at different times throughout CLL evolution.…”
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124“…BACKGROUND: Base substitution catalogues represent historical records of mutational processes that have been active in a cell. …”
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125por Liu, Baolin, Hu, Fei‐Fei, Zhang, Qiong, Hu, Hui, Ye, Zheng, Tang, Qin, Guo, An‐Yuan“…BACKGROUND: Cancer genes tend to be highly mutated under positive selection. Better understanding the recurrently mutated genes (RMGs) in cancer is critical for explicating the mechanisms of tumorigenesis and providing vital clues for therapy. …”
Publicado 2018
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126“…Recovery of Salmonella cells from the gall bladder of infected mice yields two types of isolates: (i) bile-resistant mutants; (ii) isolates that survive lethal selection without mutation. Bile-resistant mutants are recovered at frequencies high enough to suggest that increased mutation rates may occur in the gall bladder, thus providing a tentative example of stress-induced mutation in a natural environment. …”
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127por Galuppini, Francesca, Dal Pozzo, Carlo Alberto, Deckert, Jutta, Loupakis, Fotios, Fassan, Matteo, Baffa, Raffaele“…Current molecular testing for selection of patients with gastrointestinal or pulmonary carcinomas relies on the prevalence of PD-L1 expression in tumor as well as immune cells by immunohistochemistry and/or on the evaluation of the microsatellite status. Tumor Mutational Burden (TMB) has emerged as a promising novel biomarker in this setting to further aid in patient selection. …”
Publicado 2019
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128por Hino, Hitoshi, Shiomi, Akio, Kusuhara, Masatoshi, Kagawa, Hiroyasu, Yamakawa, Yushi, Hatakeyama, Keiichi, Kawabata, Takanori, Oishi, Takuma, Urakami, Kenichi, Nagashima, Takeshi, Kinugasa, Yusuke, Yamaguchi, Ken“…Here, we investigated the clinicopathological and mutation profiles of colorectal cancer (CRC) with POLE mutations. …”
Publicado 2019
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129por Wang, Shujuan, Wu, Zhenzhen, Li, Tao, Li, Yafei, Wang, Weiqiong, Hao, Qianqian, Xie, Xinsheng, Wan, Dingming, Jiang, Zhongxing, Wang, Chong, Liu, Yanfang“…The mutational spectrum and prognostic factors of NRAS-mutated (NRAS(mut)) acute myeloid leukemia (AML) are largely unknown. …”
Publicado 2020
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130por De Maio, Nicola, Walker, Conor R., Turakhia, Yatish, Lanfear, Robert, Corbett-Detig, Russell, Goldman, Nick“…We find that two particular mutation rates, G→U and C→U, are similarly elevated and considerably higher than all other mutation rates, causing the majority of mutations in the SARS-CoV-2 genome, and are possibly the result of APOBEC and ROS activity. …”
Publicado 2021
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131“…The infinite sites model of molecular evolution posits that every position in the genome is mutated at most once(1). By restricting the number of possible mutation histories, haplotypes and alleles, it forms a cornerstone of tumor phylogenetic analysis(2) and is often implied when calling, phasing and interpreting variants(3,4) or studying the mutational landscape as a whole(5). …”
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132por Manders, Freek, Brandsma, Arianne M., de Kanter, Jurrian, Verheul, Mark, Oka, Rurika, van Roosmalen, Markus J., van der Roest, Bastiaan, van Hoeck, Arne, Cuppen, Edwin, van Boxtel, Ruben“…BACKGROUND: The collective of somatic mutations in a genome represents a record of mutational processes that have been operative in a cell. …”
Publicado 2022
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133“…Based on this analysis, a “mutation blacklist” of SARS-CoV-2 was compiled. The loci on the “mutation blacklist” are highly conserved, and these mutations likely have detrimental effects on virus survival, replication, and transmission. …”
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134por Robinson, Philip S., Thomas, Laura E., Abascal, Federico, Jung, Hyunchul, Harvey, Luke M. R., West, Hannah D., Olafsson, Sigurgeir, Lee, Bernard C. H., Coorens, Tim H. H., Lee-Six, Henry, Butlin, Laura, Lander, Nicola, Truscott, Rebekah, Sanders, Mathijs A., Lensing, Stefanie V., Buczacki, Simon J. A., ten Hoopen, Rogier, Coleman, Nicholas, Brunton-Sim, Roxanne, Rushbrook, Simon, Saeb-Parsy, Kourosh, Lalloo, Fiona, Campbell, Peter J., Martincorena, Iñigo, Sampson, Julian R., Stratton, Michael R.“…The increased mutation burdens were of multiple mutational signatures characterised by C > A changes. …”
Publicado 2022
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135“…CCAAT/enhancer binding protein alpha (CEBPA) mutations in AML are associated with favourable prognosis and are divided into N- and C-terminal mutations. …”
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136por Uchimura, Arikuni, Higuchi, Mayumi, Minakuchi, Yohei, Ohno, Mizuki, Toyoda, Atsushi, Fujiyama, Asao, Miura, Ikuo, Wakana, Shigeharu, Nishino, Jo, Yagi, Takeshi“…However, neither the rate of germline mutations in laboratory mice nor the biological significance of the mutation rate in mammalian populations is clear. …”
Publicado 2015
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137por Jenkins, Dagan, Baynam, Gareth, De Catte, Luc, Elcioglu, Nursel, Gabbett, Michael T, Hudgins, Louanne, Hurst, Jane A, Jehee, Fernanda Sarquis, Oley, Christine, Wilkie, Andrew O MMaterias: “…Mutations in Brief…”
Publicado 2011
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138“…Clustering of mutant pollen grains in a population of normal pollen due to premeiotic mutational events complicates translating mutation frequencies into rates. …”
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139por Zhang, Peilin, Bhakta, Kunjan S, Puri, Pier Lorenzo, Newbury, Robert O, Feramisco, James R, Wang, Jean Y“…CONCLUSION: These results suggest a link of ATM gene deletion/mutation with rhabdomyosarcoma, and since ATM kinase is a crucial regulatory protein in DNA damage repair signaling pathway, and ATM deletion/mutation may contribute to pathogenesis of rhabdomyosarcoma.…”
Publicado 2003
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140por Kožich, Viktor, Sokolová, Jitka, Klatovská, Veronika, Krijt, Jakub, Janošík, Miroslav, Jelínek, Karel, Kraus, Jan P, Cooper, David N“…Hum Mutat 31:1–11, 2010. © 2010 Wiley-Liss, Inc.…”
Publicado 2010
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