Genetic variability in 13q33 and 9q34 is linked to aggressiveness patterns and a higher risk of progression of non‐muscle‐invasive bladder cancer at the time of diagnosis

Lenfant, Louis; Cancel‐Tassin, Géraldine; Gazut, Stéphane; Compérat, Éva; Rouprêt, Morgan; Cussenot, Olivier

doi:10.1111/bju.15254

Cited by 3 publications

(3 citation statements)

References 32 publications

(57 reference statements)

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“…A significant association was also found for the entire cohort between the risk of progression and the A allele of rs4976845 ( P = 0.04). The authors could demonstrate three SNPs (rs12615669, rs4976845, and rs2989734) that were associated with aggressive NMIBC and one SNP (rs4976845) with a higher risk of progression [30].…”

Section: Artificial Intelligence In Nonmuscle-invasive Bladder Cancermentioning

confidence: 99%

Nonmuscle-invasive bladder cancer, old problems, new insights

Compérat

Wasinger

Oszwald

et al. 2022

Current Opinion in Urology

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Purpose of reviewNonmuscle-invasive bladder cancer (NMIBC) is the most frequent bladder cancer and represents around 75% of bladder cancers. This review will discuss known challenges and recent advances in staging, grading and treatment stratification based on pathology.Recent findingsPathological staging and grading in NMIBC remains challenging and different techniques exist. Substaging has been shown to be of prognostic relevance and to help predict treatment response in patients receiving Bacillus Calmette-Guérin (BCG) therapy, which is the treatment of choice for high-grade NMIBC. Recent advances in molecular classification and artificial intelligence were also able to show promising results in the stratification of patients.SummaryMany challenges in the diagnosis of NMIBC are still unresolved and ask for more prospective research. New technologies, molecular insights and AI will help in the upcoming years to better stratify and manage these patients.

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Section: Artificial Intelligence In Nonmuscle-invasive Bladder Cancermentioning

confidence: 99%

Nonmuscle-invasive bladder cancer, old problems, new insights

Compérat

Wasinger

Oszwald

et al. 2022

Current Opinion in Urology

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“…We checked the associations of SNPs that were previously published for association with RFS or PFS in the whole NMIBC group, as summarized by Lipunova et al [6] plus rs4976845 (published for association with progression after the review [16]).…”

Section: Replication Of Previously Reported Locimentioning

confidence: 99%

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

Galesloot

Grotenhuis

Kolev

et al. 2022

European Urology Oncology

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Background: Non-muscle-invasive bladder cancer (NMIBC) is characterized by frequent recurrences and a risk of progression in stage and grade. Increased knowledge of underlying biological mechanisms is needed. Objective: To identify single nucleotide polymorphisms (SNPs) associated with recurrence-free (RFS) and progression-free (PFS) survival in NMIBC. Design, setting, and participants: We analyzed outcome data from 3400 newly diagnosed NMIBC patients from the Netherlands, the UK, Canada, and Spain. We generated genome-wide germline SNP data using Illumina OmniExpress and Infinium Global Screening Array in combination with genotype imputation. Outcome measurements and statistical analysis: Cohort-specific genome-wide association studies (GWASs) for RFS and PFS were performed using a Cox proportional hazard model. Results were combined in a fixed-effect inverse-variance weighted meta-analysis. Candidate genes for the identified SNP associations were prioritized using functional annotation, gene-based analysis, expression quantitative trait locus analysis, and transcription factor binding site databases. Tumor expression levels of prioritized genes were tested for association with RFS and PFS in an independent NMIBC cohort.

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“…For example, TP53 mutation is found in almost 50% of bladder cancer patients and is associated with disease progression and drug selection [13]. Currently, data from genome-wide association studies have also identified three single nucleotide polymorphisms (SNPs) associated with aggressive UCC and a higher risk of progression [14]. However, there is still insufficient evidence to endorse genetic screening for UCCs.…”

Section: Introductionmentioning

confidence: 99%

The impacts of MACC1 gene polymorphisms on urothelial cell carcinoma susceptibility and clinicopathologic characteristics in Taiwan

Chang,

Hung,

Chou

et al. 2023

J. Cancer

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Urothelial cell carcinoma (UCC) is a common malignancy of the urinary tract in Taiwan. Metastasis-Associated in Colon Cancer 1 (MACC1), a newly identified oncogene and regulator of the HGF/Met signaling pathway, has been shown to play a critical role in the development and progression of several types of cancer. Our study aims to investigate the impact of MACC1 gene polymorphisms on the clinicopathological features of patients with UCC. In this study, we included a total of 719 patients with UCC and 719 healthy controls. The genotyping of five MACC1 gene polymorphisms (rs1990172, rs975263, rs3095007, rs4721888, and rs3735615) was performed using real-time PCR with TaqMan assays. Our findings indicate that urothelial cancer patients with MACC1 rs3095007 A allele had a decreased risk of >T2 stage [Odds ratio (OR)=0.619, 95% CI=0.394-0.971, p=0.036] and lymph node invasion (OR=0.448, 95% CI=0.201-0.998, p=0.044). Additionally, these individuals were associated with longer relapse-free survival (p=0.007) and overall survival (p=0.028). In conclusion, our findings demonstrate that urothelial cancer patients with MACC1 (rs3095007) CA and AA genotypes have a lower risk of advanced T stage and lymph node metastasis. Additionally, these genotypes were associated with longer relapse-free survival and overall survival, highlighting the potential of these biomarkers as predictors of UCC prognosis.

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Genetic variability in 13q33 and 9q34 is linked to aggressiveness patterns and a higher risk of progression of non‐muscle‐invasive bladder cancer at the time of diagnosis

Cited by 3 publications

References 32 publications

Nonmuscle-invasive bladder cancer, old problems, new insights

Nonmuscle-invasive bladder cancer, old problems, new insights

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

The impacts of MACC1 gene polymorphisms on urothelial cell carcinoma susceptibility and clinicopathologic characteristics in Taiwan

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