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  1. 1041
    “…BACKGROUND: Tumor mutation burden (TMB) is an important determinant and biomarker for response of targeted therapy and prognosis in patients with lung cancer. …”
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    Decoding tumor mutation burden and driver mutations in early stage lung adenocarcinoma using CT‐based radiomics signature
  2. 1042
    “…Black patients had a higher TMB compared to non-black (15.3 mutations/Mb compared to 11.5 mutations/Mb, p = 0.001). …”
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    Fewer actionable mutations but higher tumor mutational burden characterizes NSCLC in black patients at an urban academic medical center
  3. 1043
    “…In this study, we investigated a closely related group of variants from the IMP family that all contain the combination of mutations S115T and S119G relative to IMP-1. (2) Methods: The effects of each individual mutation and their combination in the IMP-1 sequence background in comparison to IMP-1 were investigated. …”
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    Mutation S115T in IMP-Type Metallo-β-Lactamases Compensates for Decreased Expression Levels Caused by Mutation S119G
  4. 1044
    “…De novo mutations (DNMs), or mutations that appear in an individual despite not being seen in their parents, are an important source of genetic variation whose impact is relevant to studies of human evolution, genetics, and disease. …”
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    De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population
  5. 1045
    “…The difference in somatic mutation profiles in breast cancer patients with germline BRCA and non-BRCA mutations remains unexplored. …”
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    Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer
  6. 1046
    “…Background: Niemann-Pick diseases are rare inherited lipid storage disorders caused by mutations in the SMPD1, NPC1, and NPC2 genes. The aim of this study was to assess the mutation spectrum of a cohort of Iranian Niemann-Pick patients. …”
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    Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene
  7. 1047
    por Shieh, Andrew, Mohamed, Ali A.
    Publicado 2017
    “…We present a case of a 36-year-old woman with heterozygous mutations in the ataxia telangiectasia mutated (ATM) gene who was admitted to the hospital for fatigue and diffusely scattered bruises. …”
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    A Case of Therapy-Related Acute Myeloid Leukemia in a Patient With Heterozygous Mutations in the Ataxia Telangiectasia Mutated Gene
  8. 1048
    “…The different genetic mutation profile related to MSI status was also identified between two groups of tumors. …”
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    Colorectal carcinomas with mucinous differentiation are associated with high frequent mutation of KRAS or BRAF mutations, irrespective of quantity of mucinous component
  9. 1049
    “…BACKGROUND: TP53 is a crucial tumor suppressor gene. However, the mutation pattern of TP53 in Chinese patients with breast cancer has not yet been determined. …”
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    Impact of TP53 mutations in breast cancer: Clinicopathological features and prognosisImpact of TP53 mutations in breast CA
  10. 1050
    “…BRAF(V600E) mutation was significantly associated with coexisting papillary thyroid carcinoma (p = 0.009) and RAS mutations with female gender (p = 0.012). …”
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    Characterization of Driver Mutations in Anaplastic Thyroid Carcinoma Identifies RAS and PIK3CA Mutations as Negative Survival Predictors
  11. 1051
    “…Pairing TGR assays with next-generation sequencing (NGS) enables comprehensive mutation pattern analysis to inform mutational mechanisms. …”
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    Chemically induced mutations in a MutaMouse reporter gene inform mechanisms underlying human cancer mutational signatures
  12. 1052
    “…CMN are historically known to be associated with activating NRAS or BRAF mutations. Melanoma frequently harbors the BRAF p.Val600Glu mutation, which is also commonly found in benign nevi. …”
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    Novel genetic alteration in congenital melanocytic nevus: MAP2K1 germline mutation with BRAF somatic mutation
  13. 1053
    “…We describe the rate and spectrum of spontaneous mutations for the social amoeba Dictyostelium discoideum, a key model organism in molecular, cellular, evolutionary and developmental biology. …”
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    Low Base-Substitution Mutation Rate but High Rate of Slippage Mutations in the Sequence Repeat-Rich Genome of Dictyostelium discoideum
  14. 1054
    “…PATIENTS AND METHODS: This study contained the mutational profiles of EGFR-mutated NSCLC patients from two cohorts: Guangzhou (G1) and database (G2). …”
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    Concomitant Mutations in EGFR 19Del/L858R Mutation and Their Association with Response to EGFR-TKIs in NSCLC Patients
  15. 1055
    “…In this study, we analyzed the mutation densities of viral isolates carrying frequently observed mutations for four proteins in the RNA synthesis complex over time in comparison to wildtype isolates. …”
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    Mutations of SARS-CoV-2 nsp14 exhibit strong association with increased genome-wide mutation load
  16. 1056
    “…Immune checkpoint inhibitors (ICIs) have been proved to be beneficial for advanced HCC. Tumor mutational burden (TMB) is an important predictor for efficacy of ICIs. …”
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    LRP1B or TP53 mutations are associated with higher tumor mutational burden and worse survival in hepatocellular carcinoma
  17. 1057
    “…The presence of pathogenic mutations was confirmed by Sanger sequencing. RESULTS: We found no BRCA2 mutation in the entire cohort. …”
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    Recurrent BRCA1 Mutation, but no BRCA2 Mutation, in Vietnamese Patients with Ovarian Carcinoma Detected with Next Generation Sequencing
  18. 1058
    “…The clinical presentation is caused by mutations in the MEFV gene encoding the Pyrin protein. …”
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    Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings
  19. 1059
    “…PURPOSE: To report a case of aggressive infantile orbital embryonal rhabdomyosarcoma harboring germline ATM mutation and 2 somatic mutations as revealed by next-generation sequencing and the potential application for personalized therapy. …”
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    Germline ATM mutation and somatic PIK3CA and BCOR mutations found in an infant with aggressive orbital embryonal rhabdomyosarcoma
  20. 1060
    “…An IDH1 mutation is hypothesized to occur early during cellular transformation and leads to further genetic instability. …”
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    A Genome-Wide Profiling of Glioma Patients with an IDH1 Mutation Using the Catalogue of Somatic Mutations in Cancer Database
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