Mutation found in &gt;70% of tumours

Payton, Sarah

doi:10.1038/nrurol.2013.222

Cited by 2 publications

(3 citation statements)

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“…Finally, H-PFA found several statistically significant sets of associations involving somatic mutations in gene TERT, as shown in Table 5. Somatic mutations in the gene promoter of telomerase reverse transcriptase (TERT) have been found in 70-79% of bladder tumors in a multi-institutional study published in European Urology [36]. Table 5 shows that TERT muta- Table 5: Clinico-genetic associations found by the H-PFA (2/2).…”

Section: Identification Of Clinico-genetic Associationsmentioning

confidence: 99%

A Bayesian Nonparametric Approach to Discover Clinico-Genetic Associations across Cancer Types

et al. 2019

Preprint

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Motivation: Personalized medicine aims at combining genetic, clinical, and environmental data to improve medical diagnosis and disease treatment, tailored to each patient. This paper presents a Bayesian nonparametric (BNP) approach to identify genetic associations with clinical/environmental features in cancer. We propose an unsupervised approach to generate data-driven hypotheses and bring potentially novel insights about cancer biology. Our model combines somatic mutation information at gene-level with features extracted from the Electronic Health Record. We propose a hierarchical approach, the hierarchical Poisson factor analysis (H-PFA) model, to share information across patients having different types of cancer. To discover statistically significant associations, we combine Bayesian modeling with bootstrapping techniques and correct for multiple hypothesis testing. Results: Using our approach, we empirically demonstrate that we can recover well-known associations in cancer literature. We compare the results of H-PFA with two other classical methods in the field: case-control (CC) setups, and linear mixed models (LMMs).

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Section: Identification Of Clinico-genetic Associationsmentioning

confidence: 99%

A Bayesian Nonparametric Approach to Discover Clinico-Genetic Associations across Cancer Types

et al. 2019

Preprint

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“…MIBC also has a deletion of chromosome 9 and mutations in FGFR3, PI3K, TERT [ 11 , 12 , 13 ]. Additionally, retinoblastoma protein 1 (Rb1) and p53 are mutated and/or deleted [ 14 , 15 , 16 , 17 , 18 ]. In MIBC, Rb1 is truncated which promotes tumorigenesis.…”

Section: Introductionmentioning

confidence: 99%

“…In MIBC, Rb1 is truncated which promotes tumorigenesis. There is also an ~50% increase in p53 mutations in muscle invasive bladder cancer which leads to impaired DNA repair capabilities and loss of function in p53 associated tumor suppressor genes [ 17 ]. MIBC accounts for 25% of all bladder cancers and, depending on the aggravating factors, has a five-year survival of 70% [ 19 ].…”

Section: Introductionmentioning

confidence: 99%

Applications of Exosomes in Diagnosing Muscle Invasive Bladder Cancer

Walker

O’Malley

2022

Pharmaceutics

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Muscle Invasive Bladder Cancer (MIBC) is a subset of bladder cancer with a significant risk for metastases and death. It accounts for nearly 25% of bladder cancer diagnoses. A diagnostic work-up for MIBC is inclusive of urologic evaluation, radiographic imaging with a CT scan, urinalysis, and cystoscopy. These evaluations, especially cystoscopy, are invasive and carry the risk of secondary health concerns. Non-invasive diagnostics such as urine cytology are an attractive alternative currently being investigated to mitigate the requirement for cystoscopy. A pitfall in urine cytology is the lack of available options with high reliability, specificity, and sensitivity to malignant bladder cells. Exosomes are a novel biomarker source which could resolve some of the concerns with urine cytology, due to the high specificity as the surrogates of tumor cells. This review serves to define muscle invasive bladder cancer, current urine cytology methods, the role of exosomes in MIBC, and exosomes application as a diagnostic tool in MIBC. Urinary exosomes as the specific populations of extracellular vesicles could provide additional biomarkers with specificity and sensitivity to bladder malignancies, which are a consistent source of cellular information to direct clinicians for developing treatment strategies. Given its strong presence and differentiation ability between normal and cancerous cells, exosome-based urine cytology is highly promising in providing a perspective of a patient’s bladder cancer.

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Mutation found in >70% of tumours

Cited by 2 publications

References 1 publication

A Bayesian Nonparametric Approach to Discover Clinico-Genetic Associations across Cancer Types

A Bayesian Nonparametric Approach to Discover Clinico-Genetic Associations across Cancer Types

Applications of Exosomes in Diagnosing Muscle Invasive Bladder Cancer

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