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  1. 1061
    “…Daphnia exposed to cadmium had a higher intergenic mutation rate and a lower exonic mutation rate. The higher intergenic mutation rate under cadmium exposure was the result of an elevated intergenic [Formula: see text] rate, whereas the lower exon mutation rate in cadmium was the result of a complete loss of exonic [Formula: see text] mutations—mutations that are known to be enriched at 5-hydroxymethylcytosine. …”
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    Genome-Wide Analysis of Cadmium-Induced, Germline Mutations in a Long-Term Daphnia pulex Mutation-Accumulation Experiment
  2. 1062
    “…Several studies have suggested that Leigh syndrome with MT-ND3 mutation is strongly associated with epilepsy. This study focused on the epilepsy-related characteristics of Leigh syndrome with MT-ND3 mutation identified in a single tertiary hospital in South Korea. …”
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    Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation
  3. 1063
    “…RESULTS: There were diverse mutation types in 100% of TP53 mutants, while mutations were present in 86.5% of cases with TP53(wt). …”
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    A special prognostic indicator: tumor mutation burden combined with immune infiltrates in lung adenocarcinoma with TP53 mutation
  4. 1064
    “…Both children had CLMP gene exons 3–5 homozygous deletion mutation, while the parents had a heterozygous mutation. …”
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    Congenital Short-Bowel Syndrome Is Associated With a Novel Deletion Mutation in the CLMP Gene: Mutations in CLMP Caused CSBS
  5. 1065
    “…Sequencing of a target panel of cancer-related genes using the tumor-enriched fraction increased the number of detectable mutations and variant allele frequency. Furthermore, mutation analysis of DNA isolated from tumor-enriched and residual fractions allowed us to estimate germline mutations without a blood reference. …”
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    Tumor cell enrichment by tissue suspension enables detection of mutations with low variant allele frequency and estimation of germline mutations
  6. 1066
    “…Inherited germline mutations in the breast cancer gene 1 (BRCA1) or BRCA2 genes (herein BRCA1/2) greatly increase the risk of breast and ovarian cancer, presumably by elevating somatic mutational errors as a consequence of deficient DNA repair. …”
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    Single-cell analysis of somatic mutation burden in mammary epithelial cells of pathogenic BRCA1/2 mutation carriers
  7. 1067
    “…Tumor protein 53 (TP53) mutations are the most common mutations in NSCLC, and several reports highlighted a role for these mutations in influencing prognosis and responsiveness to EGFR targeted therapy. …”
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    The Role of TP53 Mutations in EGFR-Mutated Non-Small-Cell Lung Cancer: Clinical Significance and Implications for Therapy
  8. 1068
    “…INTRODUCTION: Tumor mutational burden (TMB) and APOBEC mutational signatures are potential prognostic markers in patients with advanced urothelial carcinoma (aUC). …”
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    APOBEC Mutational Signature and Tumor Mutational Burden as Predictors of Clinical Outcomes and Treatment Response in Patients With Advanced Urothelial Cancer
  9. 1069
    “…Purpose: To assess the significance of mutation mutual exclusion information in the optimization of radiomics algorithms for predicting gene mutation. …”
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    Establishment and Optimization of Radiomics Algorithms for Prediction of KRAS Gene Mutation by Integration of NSCLC Gene Mutation Mutual Exclusion Information
  10. 1070
    “…Here, we describe and functionally characterize a germline SDHB mutation in a patient who developed a BRAF(V600E) mutation-positive papillary thyroid cancer (PTC) and a TERT promotor mutation-positive PGL. …”
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    Papillary Thyroid Cancer and a TERT Promotor Mutation-positive Paraganglioma in a Patient With a Germline SDHB Mutation
  11. 1071
    “…Deep‐sequencing analysis revealed the presence of BRAF mutations in up to 15% of patients. The clinical experience of BRAF‐targeted therapy in myeloma patients harboring BRAF mutation is still limited. …”
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    RAS mutation leading to acquired resistance to dabrafenib and trametinib therapy in a multiple myeloma patient harboring BRAF mutation
  12. 1072
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    Predominance of BRCA2 Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with BRCA1 or BRCA2 Mutation
  13. 1073
    “…Of the identified variants, the PSEN2 mutations are even less common. OBJECTIVE: With the genetic study from the dementia cohort of Peking Union Medical College Hospital (PUMCH), we aim to illustrate the PSEN2 mutation spectrum and novel functionally validated mutations in Chinese AD patients. …”
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    PSEN2 Mutation Spectrum and Novel Functionally Validated Mutations in Alzheimer’s Disease: Data from PUMCH Dementia Cohort
  14. 1074
    “…However, questions remain regarding how certain features—the evolution of mutators and whether compensatory mutations alleviate costs fully or partially—may influence the evolutionary dynamics of compensation and reversion. …”
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    Reversion is most likely under high mutation supply when compensatory mutations do not fully restore fitness costs
  15. 1075
    “…Rapidly mutating Y-STRs (RM Y-STRs) harbor great potential to distinguish male relatives and achieve male identification. …”
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    Mutation analysis for newly suggested 30 Y-STR loci with high mutation rates in Chinese father-son pairs
  16. 1076
    “…SIMPLE SUMMARY: Tumor mutation burden (TMB) represents the mutational load in the tumor cell genome and serves as a surrogate marker for tumor neoantigen production and potential immunogenicity. …”
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    High Tumor Mutation Burden Is Associated with Poor Clinical Outcome in EGFR-Mutated Lung Adenocarcinomas Treated with Targeted Therapy
  17. 1077
    “…SIMPLE SUMMARY: The mutational status of certain genes can be useful to advance therapeutic decision making and clinical management of cancer patients. …”
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    Mutational Status of SMAD4 and FBXW7 Affects Clinical Outcome in TP53–Mutated Metastatic Colorectal Cancer
  18. 1078
    “…BACKGROUND: Germline mutations of breast cancer susceptibility gene BRCA1 and BRCA2 (gBRCA1/2) are associated with elevated risk of breast cancer in young women in Asia. …”
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    Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations
  19. 1079
    “…The NGS study performed at the time of the MM diagnosis revealed the HRAS Val14Gly/c.41T〉G mutation and the wild type CALR, JAK2 and MPL gene sequence. …”
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    HRAS mutation positive multiple myeloma in the type 2 CALR mutation positive essential thrombocythemia: A case report
  20. 1080
    “…Here, we summarized the SLC4A1 mutations and clinical characteristics associated with dRTA. …”
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    Mutations and clinical characteristics of dRTA caused by SLC4A1 mutations: Analysis based on published patients
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