Genome-wide Meta-analysis Identifies Novel Genes Associated with Recurrence and Progression in Non–muscle-invasive Bladder Cancer

Galesloot, Tessel E.; Grotenhuis, Anne J.; Kolev, D.; Aben, K.K.H.; Bryan, Richard T.; Catto, James W.F.; Cheng, Kar Keung; Conroy, Samantha A.; Dyrskjøt, Lars; Fleshner, Neil; James, Nicholas D.; Lamy, Philippe; Lindskrog, Sia Viborg; Malats, Núria; Mengual, Lourdes; Verhaegh, Gerald W.; Kiemeney, Lambertus A.; Vermeulen, Sita H.

doi:10.1016/j.euo.2021.07.001

Cited by 7 publications

(9 citation statements)

References 24 publications

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“…Specifically, the combination of HLA-B07 and HLA-B44 homozygosity with CUETO is significantly correlated with intravesical recurrence. A meta-analysis by Galeshoot [ 90 ] searched for single nucleotide polymorphisms (SNPs) correlated with recurrence-free and progression-free survival in NMIBC. They found that lead SNP rs12885353 on chromosome 14 was associated with an increased expression of SCFD1 and associated with recurrence-free survival.…”

Section: Genomics Markersmentioning

confidence: 99%

“…Studies evaluating the genetic markers such as NMP22 [ 83 ] and DNA methylation [ 84 , 85 , 86 ] have good results with a sensitivity ranging from 0.615 to 0.94, the highest found in [ 86 ] for ZNF154 methylation. Eight statistical studies [ 70 , 74 , 78 , 79 , 87 , 88 , 89 , 90 ] found a correlation of multiple genetic markers with recurrence but did not evaluate test performance characteristics. Some of the markers were strongly correlated with the tumor stage and grade, such as Circ-ZKSCAN1 [ 78 ].…”

Section: Genomics Markersmentioning

confidence: 99%

“…A study by Lian et al [ 79 ] also showed a correlation between the high-tumor grade and gender with their markers in predicting recurrence. A study correlating HLA genotypes [ 89 ] with recurrence rates, while two studies [ 70 , 90 ] suggested the use of SNPs for predicting tumor recurrence. Two AI algorithms were developed genetic markers, an SVM and rule-based ensemble algorithms developed using genetic programming (GP) [ 91 , 92 ].…”

Section: Genomics Markersmentioning

confidence: 99%

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Predicting Recurrence of Non-Muscle-Invasive Bladder Cancer: Current Techniques and Future Trends

Shalata

Shehata

Bogaert

et al. 2022

Cancers

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Bladder cancer (BC) is the 10th most common cancer globally and has a high mortality rate if not detected early and treated promptly. Non-muscle-invasive BC (NMIBC) is a subclassification of BC associated with high rates of recurrence and progression. Current tools for predicting recurrence and progression on NMIBC use scoring systems based on clinical and histopathological markers. These exclude other potentially useful biomarkers which could provide a more accurate personalized risk assessment. Future trends are likely to use artificial intelligence (AI) to enhance the prediction of recurrence in patients with NMIBC and decrease the use of standard clinical protocols such as cystoscopy and cytology. Here, we provide a comprehensive survey of the most recent studies from the last decade (N = 70 studies), focused on the prediction of patient outcomes in NMIBC, particularly recurrence, using biomarkers such as radiomics, histopathology, clinical, and genomics. The value of individual and combined biomarkers is discussed in detail with the goal of identifying future trends that will lead to the personalized management of NMIBC.

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Section: Genomics Markersmentioning

confidence: 99%

Section: Genomics Markersmentioning

confidence: 99%

Section: Genomics Markersmentioning

confidence: 99%

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Predicting Recurrence of Non-Muscle-Invasive Bladder Cancer: Current Techniques and Future Trends

Shalata

Shehata

Bogaert

et al. 2022

Cancers

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“…The prognosis of non-muscle invasive bladder cancer (NMIBC) involves approximately 75% of incident cases of bladder cancer [ 1 , 2 ], and the frequent reoccurrence and progression may lead to more lethal muscle-invasive bladder cancer (MIBC) [ 3 ]. Subsequently, the quest for frequent surveillance episodes and continuous treatment systems became an urgent necessity to combat NMIBC reoccurrence and their progression in the human body [ 4 ]. Surgical intervention, immunotherapy, photodynamic therapy, chemotherapy, and radiotherapy are all effective treatments for patients suffering from bladder cancer.…”

Section: Introductionmentioning

confidence: 99%

Central Composite Design for Optimization of Mitomycin C-Loaded Quantum Dots/Chitosan Nanoparticles as Drug Nanocarrier Vectors

et al. 2023

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Cancer is one of the most devastating diseases that leads to a high degree of mortality worldwide. Hence, extensive efforts have been devoted to the development of drug nanocarrier vectors as a potential new cancer treatment option. The main goal of this treatment is to deliver an anticancer medicine successfully and effectively to the patient’s cells using non-toxic nanocarriers. Here, we present a drug delivery system to emphasize the optimization of an anticancer drug-loaded formulation using Mitomycin C (MMC) encapsulated in chitosan nanocarrier conjugated with a bioimaging fluorescence probe of Mn:ZnS quantum dots (MMC@CS-Mn:ZnS). Additionally, the Response Surface Methodology (RSM), which uses a quadratic model to forecast the behaviour of the nano-drug delivery system, was used to assess the optimization of encapsulation efficiency. In this investigation, the core points of the Central Composite Design (CCD) model were used with 20 runs and 6 replications. The encapsulation efficiency (EE%) was measured using UV-Vis spectroscopy at 362 nm. The highest EE% is 55.31 ± 3.09 under the optimum parameters of incubation time (105 min), concentration of MMC (0.875 mg/mL), and concentration of nanocarriers (5.0 mg/mL). Physicochemical characterizations for the nanocarriers were accessed using a nanosizer and field-emission scanning electron microscopy (FESEM). Three independent variables for the evaluation of the encapsulation efficiency were used, in which the incubation time, concentration of MMC, concentration of nanocarriers, and correlation for each variable were studied. Furthermore, the MMC drug release efficiency was carried out in four different solution pHs of 5.5, 6.0, 6.5, 7.0, and pH 7.5, and the highest cumulative drug release of 81.44% was obtained in a pH 5.5 release medium, followed by cumulative releases of 68.55%, 50.91%, 41.57%, and 32.45% in release mediums with pH 6.0, pH 6.5, pH 7.0, and pH 7.5. Subsequently, five distinct mathematical models—pseudo-first-order, pseudo-second-order, Hixson-Crowell, Korsmeyer-Peppas, and Higuchi kinetic models—were used to fit all of the drug release data. The Korsmeyers-Peppas model was found to fit it well, highlighting its importance for the log of cumulative drug release proportional to the log of time at the equilibrium state. The correlation coefficient value (R2) was obtained as 0.9527, 0.9735, 0.9670, 0.9754, and 0.9639 for the drug release in pH 5.5, pH 6.0, pH 6.5, pH 7.0, and pH 7.5, respectively. Overall, from the analysis, the as-synthesized MMC nanocarrier (MMC@CS-Mn:ZnS) synergistically elucidates the underlying efficient delivery of MMC and leverages the drug loading efficiency, and all these factors have the potential for the simultaneous curbing of non-muscle invasive bladder cancer reoccurrence and progression when applied to the real-time disease treatment.

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“…2 , 16 - 19 A recent genome-wide meta-analysis that investigated the outcomes of non–muscle-invasive UBC identified rs12885353 (near SCFD1 ), which is significantly associated with UBC recurrence-free survival. 20 Most of these variants and genes confer modest increase in UBC risk (odds ratio < 2) and aggregate in xenobiotic metabolism, DNA repair, and cell cycle progression pathways. 21 …”

Section: Introductionmentioning

confidence: 99%

Identification of Genetic Risk Factors for Familial Urinary Bladder Cancer: An Exome Sequencing Study

Pemov

Wegman-Ostrosky

Kim

et al. 2021

JCO Precision Oncology

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PURPOSE Previous studies have shown an approximately two-fold elevation in the relative risk of urinary bladder cancer (UBC) among people with a family history that could not be entirely explained by shared environmental exposures, thus suggesting a genetic component in its predisposition. Multiple genome-wide association studies and recent gene panel sequencing studies identified several genetic loci that are associated with UBC risk; however, the list of UBC-associated variants and genes is incomplete. MATERIALS AND METHODS We exome sequenced eight patients from three multiplex UBC pedigrees and a group of 77 unrelated familial UBC cases matched to 241 cancer-free controls. In addition, we examined pathogenic germline variation in 444 candidate genes in 392 The Cancer Genome Atlas UBC cases. RESULTS In the pedigrees, segregating variants were family-specific although the identified genes clustered in common pathways, most notably DNA repair ( MLH1 and MSH2) and cellular metabolism ( IDH1 and ME1). In the familial UBC group, the proportion of pathogenic and likely pathogenic variants was significantly higher in cases compared with controls ( P = .003). Pathogenic and likely pathogenic variant load was also significantly increased in genes involved in cilia biogenesis ( P = .001). In addition, a pathogenic variant in CHEK2 (NM_007194.4:c.1100del; p.T367Mfs*15) was over-represented in cases (variant frequency = 2.6%; 95% CI, 0.71 to 6.52) compared with controls (variant frequency = 0.21%; 95% CI, 0.01 to 1.15), but was not statistically significant. CONCLUSION These results point to a complex polygenic predisposition to UBC. Despite heterogeneity, the genes cluster in several biologically relevant pathways and processes, for example, DNA repair, cilia biogenesis, and cellular metabolism. Larger studies are required to determine the importance of CHEK2 in UBC etiology.

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Genome-wide Meta-analysis Identifies Novel Genes Associated with Recurrence and Progression in Non–muscle-invasive Bladder Cancer

Cited by 7 publications

References 24 publications

Predicting Recurrence of Non-Muscle-Invasive Bladder Cancer: Current Techniques and Future Trends

Predicting Recurrence of Non-Muscle-Invasive Bladder Cancer: Current Techniques and Future Trends

Central Composite Design for Optimization of Mitomycin C-Loaded Quantum Dots/Chitosan Nanoparticles as Drug Nanocarrier Vectors

Identification of Genetic Risk Factors for Familial Urinary Bladder Cancer: An Exome Sequencing Study

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