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A novel RBBP8(p.E281*) germline mutation is a predisposing mutation in familial hereditary cancer syndrome
AbstractScreening tumor susceptibility genes helps in identifying powerful biomarkers for hereditary cancer monitoring, prevention, and diagnosis,...
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Estimation of Microbial Mutation Rates in Tuberculosis Research
Antibiotic resistance is a dominant theme in tuberculosis research. Quantitative studies on microbial mutation rates play a key role in drug...
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Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda
BackgroundMal de Meleda is an autosomal recessive palmoplantar keratoderma, with SLURP1 identified as the pathogenic gene responsible. Although over...
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Y-chromosomal STRs Mutation Rates in the Yakut Population
AbstractThe fine structure of the Y chromosome haplogroup N3a2-M1982 has been described on the basis of complete sequencing data of 23 men,...
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The role of the genomic mutation signature and tumor mutation burden on relapse risk prediction in head and neck squamous cell carcinoma after concurrent chemoradiotherapy
Personalized genetic profiling has focused on improving treatment efficacy and predicting risk stratification by identifying mutated genes and...
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Bacterial Mutation to Phage Resistance
Bacterial acquisition of resistance, resistance to phages as well as other antagonistic agents, can occur by two distinct mechanisms, mutation and...
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Psychological Burden and Preferences in CDH1 Mutation Carriers: Beyond the Cancer Diagnosis
CDH1 gene mutation carriers have to deal with a significant emotional burden associated with the increased risk of develo** invasive and aggressive...
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USH2A mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer
This study aimed to identify subtypes of genomic variants associated with the efficacy of immune checkpoint inhibitors (ICIs) by conducting...
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The obesity-related mutation gene on nonalcoholic fatty liver disease
The prevalence of overweight and obesity is increasing, leading to metabolic-associated fatty liver disease (MAFLD) characterized by excessive...
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PCDH11X mutation as a potential biomarker for immune checkpoint therapies in lung adenocarcinoma
AbstractImmune checkpoint inhibitors (ICIs) have achieved impressive success in lung adenocarcinoma (LUAD). However, the response to ICIs varies...
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Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area
BackgroundDeleterious BRCA1 / 2 ( BRCA ) mutation raises the risk for BRCA mutation-related malignancies, including breast, ovarian, prostate, and...
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The APOE-R136S mutation protects against APOE4-driven Tau pathology, neurodegeneration and neuroinflammation
Apolipoprotein E4 ( APOE4 ) is the strongest genetic risk factor for late-onset Alzheimer’s disease (LOAD), leading to earlier age of clinical onset...
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Driver mutation zygosity is a critical factor in predicting clonal hematopoiesis transformation risk
Clonal hematopoiesis (CH) can be caused by either single gene mutations (eg point mutations in JAK2 causing CHIP) or mosaic chromosomal alterations...
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CA125 Levels in BRCA mutation carriers – a retrospective single center cohort study
BackgroundOvarian cancer screening in BRCA1/2 mutation carriers utilizes assessment of carbohydrate antigen 125 (CA125) and transvaginal ultrasound...
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A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription
De novo mutations occur at substantially different rates depending on genomic location, sequence context and DNA strand. The success of methods to...
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RBM10 C761Y mutation induced oncogenic ASPM isoforms and regulated β-catenin signaling in cholangiocarcinoma
BackgroundCholangiocarcinoma (CCA) comprises a heterogeneous group of biliary tract cancer. Our previous CCA mutation pattern study focused on genes...
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Mutation rates and fitness consequences of mosaic chromosomal alterations in blood
Mosaic chromosomal alterations (mCAs) are common in cancers and can arise decades before diagnosis. A quantitative understanding of the rate at which...
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DNMT3A mutation promotes leukemia development through NAM-NAD metabolic reprogramming
BackgroundDNA methyltransferase 3A (DNMT3A) is frequently mutated in acute myeloid leukemia (AML) with Arg882His (R882H) as the hotspot mutation. It...
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COSMIC-based mutation database enhances identification efficiency of HLA-I immunopeptidome
BackgroundNeoantigens have emerged as a promising area of focus in tumor immunotherapy, with several established strategies aiming to enhance their...
