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  1. 1581
    “…Background and Objectives: BRCA 1 and 2 mutations have a cumulative risk of developing ovarian cancer at 70 years of 41% and 15%, respectively, while a cumulative risk of breast cancer by 80 years of age was 72% for BRCA1 mutation carriers and 69% for BRCA2 mutation carriers. …”
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    Scar-Free Laparoscopy in BRCA-Mutated Women
  2. 1582
    por Cotter, Kellie, Rubin, Mark A.
    Publicado 2022
    “…BACKGROUND: The landscape of somatic mutations in prostate cancer (PCa) has quickly evolved over the past years. …”
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    The evolving landscape of prostate cancer somatic mutations
  3. 1583
    “…BACKGROUND: Tumour mutation burden (TMB), defined as the number of somatic mutations per megabase within the sequenced region in the tumour sample, has been used as a biomarker for predicting response to immune therapy. …”
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    Bias and inconsistency in the estimation of tumour mutation burden
  4. 1584
    “…BACKGROUND: We previously reported rare regressive genetic trajectories of KRAS pathogenic mutations as a specific hallmark of the genuine oligometastatic status in colorectal cancer (CRC). …”
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    Characterization of KRAS Mutational Regression in Oligometastatic Patients
  5. 1585
    “…INTRODUCTION: Progranulin (GRN) mutations occur in frontotemporal lobar degeneration (FTLD) and in Alzheimer's disease (AD), often with TDP‐43 pathology. …”
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    Progranulin mutations in clinical and neuropathological Alzheimer's disease
  6. 1586
    “…This study was performed for revealing mutations, which could be responsible for the carbapenemase activity of SME-1. …”
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    Mutations responsible for the carbapenemase activity of SME-1
  7. 1587
    “…To date, several therapeutic strategies have been approved and the number of CFTR mutations targeted by therapeutic agents is increasing. …”
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    Splicing mutations in the CFTR gene as therapeutic targets
  8. 1588
    “…This paper improves the original SMA by combining the Cauchy mutation mechanism with the crossover mutation strategy based on differential evolution (DE). …”
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    Mutational Slime Mould Algorithm for Gene Selection
  9. 1589
    Publicado 2022
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    Correction: Empirical estimates of the mutation rate for an alphabaculovirus
  10. 1590
    “…The ability to precisely characterise mutational signatures from FFPE-derived DNA has tremendous translational potential. …”
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    The mutational signatures of formalin fixation on the human genome
  11. 1591
    “…ASXL1 and ASXL2 are ETP proteins that assemble chromatin modification complexes and transcription factors. ASXL1 mutations frequently occur in myeloid malignancies and are associated with a poor prognosis, whereas ASXL2 mutations frequently occur in AML with t(8;21)/RUNX1-RUNX1T1 and less frequently in other subtypes of myeloid malignancies. …”
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    ASXL1/2 mutations and myeloid malignancies
  12. 1592
    “…UMOD is the first identified and the most commonly mutated gene that causes autosomal dominant tubulointerstitial kidney disease (ADTKD). …”
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    UMOD Mutations in Chronic Kidney Disease in Taiwan
  13. 1593
    “…We analyze the residue‐based circuit topological environments of 21 K mutations labeled as pathogenic or benign. Multiple statistical lines of reasoning support the conclusion that the number of contacts in two specific circuit topological arrangements, namely inverse parallel and cross relations, with contacts involving the mutated residue have discriminatory value in determining the pathogenicity of human variants. …”
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    Circuit topology predicts pathogenicity of missense mutations
  14. 1594
    “…Of these, mutations in the spike (S) protein and the resultant mutant variants have posed new challenges for vaccine development and application. …”
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    Novel coronavirus mutations: Vaccine development and challenges
  15. 1595
    “…Patient T cells exhibited hyperproliferation in response to anti-CD3 cross-linking. One of the mutations, p.R496X, abolished CBL-B expression, and a second mutation, p.C464W, resulted in preserved CBL-B expression. …”
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    Immune dysregulation caused by homozygous mutations in CBLB
  16. 1596
    por Ghadie, Mohamed, Xia, Yu
    Publicado 2021
    “…Missense mutations are known to perturb protein-protein interaction networks (known as interactome networks) in different ways. …”
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    Mutation Edgotype Drives Fitness Effect in Human
  17. 1597
    “…Pancreatic ductal adenocarcinoma (PDAC) is caused by genetic mutations in four genes: KRAS proto-oncogene and GTPase (KRAS), tumor protein P53 (TP53), cyclin-dependent kinase inhibitor 2A (CDKN2A), and mothers against decapentaplegic homolog 4 (SMAD4), also called the big 4. …”
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    Pancreatic Cancer Research beyond DNA Mutations
  18. 1598
    “…We report here a frameshift mutation of the gene gmhD in the genome of S. sonnei 4351. …”
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    The Effect of Mutation in Lipopolysaccharide Biosynthesis on Bacterial Fitness
  19. 1599
    “…Its main cause is heterozygous mutations of COL4A3 or COL4A4, which also cause late-onset focal segmental glomerulosclerosis (FSGS) or autosomal dominant Alport syndrome (ADAS). …”
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    Mutation Analysis of Thin Basement Membrane Nephropathy
  20. 1600
    “…Clonal hematopoiesis (CH) is characterized by somatic mutations in blood cells of individuals without hematologic disease. …”
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    Compartment-specific mutational landscape of clonal hematopoiesis
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