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  1. 941
    “…And TP53 mutation was associated with a poor prognosis, and its mutation displayed exclusiveness with other common mutated genes in both datasets. …”
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    Association Analyses of TP53 Mutation With Prognosis, Tumor Mutational Burden, and Immunological Features in Acute Myeloid Leukemia
  2. 942
    “…Here we set out to investigate particular mutational processes by assessing mutational signatures and associations with clinical features, tumor mutational burden (TMB) and targetable mutations. …”
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    Mutational signature analysis in non-small cell lung cancer patients with a high tumor mutational burden
  3. 943
    “…To find specific gene mutations related to TMB and the prognosis of patients, the frequently mutated genes in gastric cancer patients from TCGA and ICGC were obtained and the correlation between gene mutation, TMB, and prognosis was analyzed. …”
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    CSMD1 Mutations Are Associated with Increased Mutational Burden, Favorable Prognosis, and Anti-Tumor Immunity in Gastric Cancer
  4. 944
    “…Although endometrioid carcinoma (EC) and endometrioid ovarian carcinoma (EnOC) display similar pathological features, their molecular characteristics remain to be determined. Somatic mutation data from 2777 EC, 423 EnOC, and 57 endometriosis patients from the Catalogue of Somatic Mutations in Cancer (COSMIC) dataset were analyzed and showed similar profiles with different mutation frequencies among them. …”
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    Genomic mutation features identify distinct BRCA-associated mutation characteristics in endometrioid carcinoma and endometrioid ovarian carcinoma
  5. 945
    “…These results indicate that both processes evolved from a common U2AF1-mutated precursor, which then acquired additional mutations during a process of divergent evolution and bilineal differentiation. …”
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    Bilineal evolution of a U2AF1-mutated clone associated with acquisition of distinct secondary mutations
  6. 946
    “…We found that, within a family, mutations in FUS cause ALS while TBK1 single mutations are observed in FTD patients. …”
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    FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees
  7. 947
    “…RESULTS: The sequence analysis revealed 20 different variations, 10 of which are new, including one nonsense mutation (c.406C > T); three small deletions, (c.3126delC, c.2920_2923delCCTG, and c.2037delG); and six likely pathogenic missense mutations, (c.542C > A, c.1970G > A, c.1993C > G, c.2821 T > C, c.2872C > G, and c.3632 T > A). …”
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    Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations
  8. 948
    “…Current somatic mutation callers are biased against repetitive regions, preventing the identification of potential driver alterations in these loci. …”
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    PanCancer analysis of somatic mutations in repetitive regions reveals recurrent mutations in snRNA U2
  9. 949
    “…It is inherited in an autosomal recessive manner where two types exist according to the gene affected; type 1 associated with S-antigen (SAG) gene mutations and type 2 associated with rhodopsin kinase (GRK1) gene mutations. …”
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    Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease
  10. 950
    “…LRP1B is found to involve in a variety of cancers, but the association of LRP1B mutation with tumor mutation burden (TMB) and prognosis of LIHC is rarely studied. …”
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    LRP1B mutation associates with increased tumor mutation burden and inferior prognosis in liver hepatocellular carcinoma
  11. 951
    “…After disease progression, one patient developed an oncogenic IDH2 mutation, and the second patient acquired a secondary IDH1 D279N mutation. …”
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    Secondary IDH1 resistance mutations and oncogenic IDH2 mutations cause acquired resistance to ivosidenib in cholangiocarcinoma
  12. 952
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    Response to Afatinib in a Common EGFR-Mutated Lung Adenocarcinoma with a Very Rare Combination of Compound Mutations
  13. 953
    “…In addition, all lavages carried multiple somatic mutations (average of 25 mutations per lavage), more than half of which corresponded to common cancer driver mutations. …”
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    Uterine Lavage Identifies Cancer Mutations and Increased TP53 Somatic Mutation Burden in Individuals with Ovarian Cancer
  14. 954
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    Diagnostic value of genetic mutation analysis and mutation profiling of cell‐free DNA in intraocular fluid for vitreoretinal lymphoma
  15. 955
    “…BACKGROUND: The EIF1AX mutation has been identified in various benign and malignant thyroid lesions, with a higher prevalence in poorly differentiated thyroid carcinoma (PDTC) and anaplastic thyroid carcinoma, especially when combined with RAS or TP53 mutation. …”
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    EIF1AX mutation in thyroid tumors: a retrospective analysis of cytology, histopathology and co-mutation profiles
  16. 956
    “…Both of these mutations are novel and underscore the profound effect of GCM2 on parathyroid gland development in infants and maintenance in adults.…”
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    Glial Cell Missing Homolog 2 Mutation Causing Severe Hypoparathyroidism: Report of Two Cases With Novel Mutations
  17. 957
    “…Tumor mutational burden (TMB) is an emerging predictive marker of response to immune checkpoint inhibitor therapies. …”
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    Relationship between tumor mutational burden, gene mutation status, and clinical characteristics in 340 cases of lung adenocarcinoma
  18. 958
    “…However, the impact of these gene mutations occurring in the setting of AML with NPM1 mutation and without FLT3-ITD mutation, a favorable subtype, is unclear. …”
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    The Impact of Mutation of Myelodysplasia-Related Genes in De Novo Acute Myeloid Leukemia Carrying NPM1 Mutation †
  19. 959
    “…Pulmonary nodules (PNs) shown as persistent or growing ground-glass opacities (GGOs) are usually lung adenocarcinomas or their preinvasive lesions. Tumor mutation burden (TMB) and somatic mutations are important determinants for the choice of strategy in patients with lung cancer during therapy. …”
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    Predicting Tumor Mutation Burden and EGFR Mutation Using Clinical and Radiomic Features in Patients with Malignant Pulmonary Nodules
  20. 960
    “…Background: Index cases clinically diagnosed with multiple endocrine neoplasia type 1 (MEN1) are declared as MEN1 phenocopies if no germline MEN1 mutation is identified. In comparison with positive-mutation cases, most phenocopies have been diagnosed in older age, mainly by association of primary hyperparathyroidism (HPT) and pituitary adenoma (PIT), with HPT predominantly diagnosed as uniglandular disease. …”
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    Comprehensive Analysis of Clinical Features in Index Cases With Multiple Endocrine Neoplasia Type 1 Refine the Risk Rate for Detection of Mutation Distinguishing Negative-Mutation (Phenocopies) and Positive-Mutation Cases
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