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2721por Godin, Pierrick, Duhoux, Francois P., Mazzeo, Filomena, Rojas, Michel, Bollue, Emmanuel, François, Aline, Galant, Christine, Coulie, Julien, Coyette, Maude, Lentini, Audrey, Deswisen, Yannick, Perlepe, Vasiliki, Fellah, Latifa, Leconte, Isabelle, Berlière, Martine“…The risk of cancer is exponentially increased in patients harboring BRCA1 or BRCA2 mutations. Cumulative breast cancer risk by age 80 is estimated to 72% for BRCA1 mutation carriers and 69% for BRCA2. …”
Publicado 2022
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2722por Peng, Xia, Xia, Li-ping, Zhang, Hai-ju, Zhang, Jing, Yu, Shi-qian, Wang, Shun, Xu, Yu-ming, Yao, Baozhen, Ye, Jingping“…Type 50 early infantile epileptic encephalopathy, or EIEE-50 for short, is an autosomal recessive genetic disorder resulting from CAD mutations. So far, little has been reported on the disease. …”
Publicado 2022
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2723“…In this review, we discuss how the acquisition of mutations in various domains of the EGFR gene not only alter drug binding dynamics giving rise to resistance, but also how mutations can impact radiation response and overall survival in HNSCC patients. …”
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2724por Liu, Hong-Li, Gao, Feng-Guan, Wang, Dan-Dan, Hu, Fang-Yuan, Xu, Ping, Chang, Qing, Xu, Ge-Zhi, Wu, Ji-Hong“…Conclusion: This study expands the known mutational spectrum of RPGR, and we provide a new reference for the genetic diagnosis of RPGR variants.…”
Publicado 2022
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2725por Cagan, Alex, Baez-Ortega, Adrian, Brzozowska, Natalia, Abascal, Federico, Coorens, Tim H. H., Sanders, Mathijs A., Lawson, Andrew R. J., Harvey, Luke M. R., Bhosle, Shriram, Jones, David, Alcantara, Raul E., Butler, Timothy M., Hooks, Yvette, Roberts, Kirsty, Anderson, Elizabeth, Lunn, Sharna, Flach, Edmund, Spiro, Simon, Januszczak, Inez, Wrigglesworth, Ethan, Jenkins, Hannah, Dallas, Tilly, Masters, Nic, Perkins, Matthew W., Deaville, Robert, Druce, Megan, Bogeska, Ruzhica, Milsom, Michael D., Neumann, Björn, Gorman, Frank, Constantino-Casas, Fernando, Peachey, Laura, Bochynska, Diana, Smith, Ewan St. John, Gerstung, Moritz, Campbell, Peter J., Murchison, Elizabeth P., Stratton, Michael R., Martincorena, Iñigo“…The rates and patterns of somatic mutation in normal tissues are largely unknown outside of humans(1–7). …”
Publicado 2022
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2726“…Although collections of such mutations are very useful for genetic studies, the strains are often sick because they have multiple other mutations than the mutation of interest. …”
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2727“…This identified two types of non-canonical mutations. First, a V(637)E oncogenic mutation in the proto-oncogene Braf that conforms to the mutation signature of urethane, suggesting that the mutational bias of the carcinogen may account for this non-canonical mutation, similar to that for canonical Q61L/R mutations in Kras. …”
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2729por Nie, Yu, Murley, Alexander, Golder, Zoe, Rowe, James B., Allinson, Kieren, Chinnery, Patrick F.“…Mitochondrial mechanisms have been implicated in the pathogenesis of FTLD, raising the possibility that frontotemporal regional mutations of mitochondrial DNA (mtDNA) are contributory causes. …”
Publicado 2022
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2730por Yang, Yudie, Zhang, Xia, Gao, Yajie, Dong, Yan, Wang, Di, Huang, Yanping, Qu, Tianhao, Fan, Buqun, Li, Qizheng, Zhang, Chunxia, Cui, Xiaonan, Zhang, Bin“…In this article, we provide a detailed review of the relevant characteristics of the tumor microenvironment of NSCLC with EGFR mutation and the current research on immunotherapy for NSCLC with EGFR mutation.…”
Publicado 2022
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2731por Nie, Yanbo, Shao, Liang, Zhang, Hong, He, Colin K., Li, Hongyu, Zou, Junyan, Chen, Long, Ji, Huaiyue, Tan, Hao, Lin, Yani, Ru, Kun“…The CMML patients with DNMT3A, ETV6, FLT3, and NPM1 mutations tended to progress to sAML. ASXL1 mutation and therapeutic modalities were independent prognostic factors for CMML. …”
Publicado 2022
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2732“…Genomic analyses have revealed mutational footprints associated with DNA maintenance gone awry, or with mutagen exposures. …”
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2733por Monti, Noemi, Verna, Roberto, Piombarolo, Aurora, Querqui, Alessandro, Bizzarri, Mariano, Fedeli, Valeria“…The currently accepted theory on the influence of DNA mutations on carcinogenesis (the Somatic Mutation Theory, SMT) is facing an increasing number of controversial results that undermine the explanatory power of mutated genes considered as “causative” factors. …”
Publicado 2022
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2734por Rodrigues, Ana Beatriz Batista, de Abreu-Fernandes, Rebecca, Neto, Zoraima, Jandondo, Domingos, Almeida-de-Oliveira, Natália Ketrin, de Lavigne Mello, Aline Rosa, Morais, Joana, Daniel-Ribeiro, Cláudio Tadeu, Menard, Didier, Ferreira-da-Cruz, Maria de Fátima“…We identified one synonymous mutation (R471R) in 10 isolates and one non-synonymous mutation (A578S) in two samples. …”
Publicado 2022
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2735por Rhee, Soo-Yon, Boehm, Michael, Tarasova, Olga, Di Teodoro, Giulia, Abecasis, Ana B., Sönnerborg, Anders, Bailey, Alexander J., Kireev, Dmitry, Zazzi, Maurizio, Shafer, Robert W.“…A total of 264 (18%) sequences had a PI drug-resistance mutation (DRM) defined as having a Stanford HIV Drug Resistance Database mutation penalty score. …”
Publicado 2022
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2736“…Since the identification of this novel gene mutation, the phenotypic spectrum of RFC1 mutations continues to expand and includes not only CANVAS but also slowly progressive cerebellar ataxia, ataxia with chronic cough (ACC), isolated sensory neuropathy and multisystemic diseases. …”
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2737por Baumdicker, Franz, Bisschop, Gertjan, Goldstein, Daniel, Gower, Graham, Ragsdale, Aaron P, Tsambos, Georgia, Zhu, Sha, Eldon, Bjarki, Ellerman, E Castedo, Galloway, Jared G, Gladstein, Ariella L, Gorjanc, Gregor, Guo, Bing, Jeffery, Ben, Kretzschumar, Warren W, Lohse, Konrad, Matschiner, Michael, Nelson, Dominic, Pope, Nathaniel S, Quinto-Cortés, Consuelo D, Rodrigues, Murillo F, Saunack, Kumar, Sellinger, Thibaut, Thornton, Kevin, van Kemenade, Hugo, Wohns, Anthony W, Wong, Yan, Gravel, Simon, Kern, Andrew D, Koskela, Jere, Ralph, Peter L, Kelleher, Jerome“…Here, we introduce msprime version 1.0, which efficiently implements ancestry and mutation simulations based on the succinct tree sequence data structure and the tskit library. …”
Publicado 2021
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2738por Kuru, Nurdan, Dereli, Onur, Akkoyun, Emrah, Bircan, Aylin, Tastan, Oznur, Adebali, Ogun“…Here, we propose a new method, PHACT, that predicts the pathogenicity of missense mutations directly from the phylogenetic tree of proteins. …”
Publicado 2022
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2739por Gasparri, Maria Luisa, Bellaminutti, Serena, Farooqi, Ammad Ahmad, Cuccu, Ilaria, Di Donato, Violante, Papadia, Andrea“…This systematic review identifies, evaluates, and summarises the findings of all relevant individual studies on the prevalence of BRCA mutation (BRCAm) in endometrial cancer patients and the incidence of endometrial cancer in BRCAm women patients. …”
Publicado 2022
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2740por Huang, Lijuan, Zhou, Yunyu, Chen, Wencong, Lin, Ping, Xie, Yan, He, Kaiwen, Zhang, Shasha, Wu, Yuyu, Li, Ningdong“…The novel identified mutations further expand the spectrum of FRMD7 mutations. …”
Publicado 2022
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