Personalized Prevention of Gallbladder Cancer

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Mechanisms of Diseases".

Deadline for manuscript submissions: 20 August 2024 | Viewed by 13150

Special Issue Editors


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Guest Editor
Statistical Genetics Research Group, Institute of Medical Biometry and Informatics, University of Heidelberg, Heidelberg, Germany
Interests: statistics for molecular medicine; personalized prevention; gallbladder cancer; risk biomarkers

E-Mail Website
Guest Editor
Statistical Genetics Research Group, Institute of Medical Biometry and Informatics, University of Heidelberg, Heidelberg, Germany
Interests: personalized prevention; gallbladder cancer; genetics; risk biomarkers

Special Issue Information

Dear Colleagues,

Gallbladder cancer (GBC, ICD-10 diagnosis code C23) is an aggressive malignancy that accounts for the majority of biliary tract tumours, especially in low- and middle-income countries. Resection of tumours confined to the mucosa is currently the only potentially curative treatment, but early diagnosis is difficult because early symptoms are inconspicuous and nonspecific. On the other hand, GBC develops over a long period of time and surgical removal of the gallbladder in individuals at high-risk of GBC or affected by pre-neoplastic lesions offers a good opportunity for personalized GBC prevention.

This Special Issue of the Journal of Personalized Medicine aims to highlight the current status and recent developments in the broad field of personalized GBC prevention. Articles on the identification and characterization of novel risk and early disease biomarkers, on the causal mechanisms linking lifestyle, culture and behaviour to GBC development, and on novel opportunities for targeted therapy of incidental tumours are particularly welcome.

Prof. Dr. Justo Lorenzo Bermejo
Dr. Dominique Scherer
Guest Editors

Manuscript Submission Information

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Keywords

  • gallbladder cancer
  • personalized prevention
  • risk biomarker
  • primary prevention
  • secondary prevention/early detection
  • tertiary prevention/avoidance of gallbladder cancer progression

Published Papers (3 papers)

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Research

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16 pages, 2385 KiB  
Article
Development of an Application for Electronic Retrieval of Patient and Sample Information in Latin American Regions with a High Incidence of Gallbladder Cancer
by Sergio Guinez-Molinos, Jaime Gonzalez Diaz, Carol Barahona Ponce and Justo Lorenzo Bermejo
J. Pers. Med. 2022, 12(9), 1476; https://doi.org/10.3390/jpm12091476 - 09 Sep 2022
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Abstract
The European–Latin American Consortium towards Eradication of Preventable Gallbladder Cancer, EULAT Eradicate GBC, is collecting high-quality data and samples in four Latin American countries with high gallbladder cancer incidence (Argentina, Bolivia, Chile, and Peru) to build a unique biorepository integrated into a tailored [...] Read more.
The European–Latin American Consortium towards Eradication of Preventable Gallbladder Cancer, EULAT Eradicate GBC, is collecting high-quality data and samples in four Latin American countries with high gallbladder cancer incidence (Argentina, Bolivia, Chile, and Peru) to build a unique biorepository integrated into a tailored IT platform, to identify, validate, and functionally characterize new risk biomarkers, and to develop prediction models that integrate epidemiological and genetic–molecular risk factors. We decided to develop an application for electronic data collection to facilitate the retrieval of sociodemographic, clinical, lifestyle, dietary, and sample-related information from 15,000 Latin American study participants. The application EULAT eCollect will facilitate the work of study nurses, reduce time spent by participants, limit the use of paper and ink, minimize costs and errors associated with filling out written forms and subsequent digitisation, and support the monitoring of local recruitment rates and data quality. We describe in this article the design and implementation of the EULAT eCollect application, which started with the specification of functional and non-functional requirements, and ended with the implementation and validation of four separate application modules: Socio-Demographic Interview, Sample Information, Case Report Form, and Food-Frequency Questionnaire. We present both general and technical results, and our experience with the free and open-source software, Open Data Kit (ODK), which may be of interest for future related research projects, especially those on personalised cancer prevention carried out in low- and middle-income regions. Full article
(This article belongs to the Special Issue Personalized Prevention of Gallbladder Cancer)
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17 pages, 3492 KiB  
Article
Validation of an NGS Panel Designed for Detection of Actionable Mutations in Tumors Common in Latin America
by Mauricio Salvo, Evelin González-Feliú, Jessica Toro, Iván Gallegos, Ignacio Maureira, Nicolás Miranda-González, Olga Barajas, Eva Bustamante, Mónica Ahumada, Alicia Colombo, Ricardo Armisén, Camilo Villamán, Carolina Ibañez, María Loreto Bravo, Verónica Sanhueza, M. Loreto Spencer, Gonzalo de Toro, Erik Morales, Carolina Bizama, Patricia García, Ana María Carrasco, Lorena Gutiérrez, Justo Lorenzo Bermejo, Ricardo A. Verdugo and Katherine Marcelainadd Show full author list remove Hide full author list
J. Pers. Med. 2021, 11(9), 899; https://doi.org/10.3390/jpm11090899 - 08 Sep 2021
Cited by 3 | Viewed by 4367
Abstract
Next-generation sequencing (NGS) is progressively being used in clinical practice. However, several barriers preclude using this technology for precision oncology in most Latin American countries. To overcome some of these barriers, we have designed a 25-gene panel that contains predictive biomarkers for most [...] Read more.
Next-generation sequencing (NGS) is progressively being used in clinical practice. However, several barriers preclude using this technology for precision oncology in most Latin American countries. To overcome some of these barriers, we have designed a 25-gene panel that contains predictive biomarkers for most current and near-future available therapies in Chile and Latin America. Library preparation was optimized to account for low DNA integrity observed in formalin-fixed paraffin-embedded tissue. The workflow includes an automated bioinformatic pipeline that accounts for the underrepresentation of Latin Americans in genome databases. The panel detected small insertions, deletions, and single nucleotide variants down to allelic frequencies of 0.05 with high sensitivity, specificity, and reproducibility. The workflow was validated in 272 clinical samples from several solid tumor types, including gallbladder (GBC). More than 50 biomarkers were detected in these samples, mainly in BRCA1/2, KRAS, and PIK3CA genes. In GBC, biomarkers for PARP, EGFR, PIK3CA, mTOR, and Hedgehog signaling inhibitors were found. Thus, this small NGS panel is an accurate and sensitive method that may constitute a more cost-efficient alternative to multiple non-NGS assays and costly, large NGS panels. This kind of streamlined assay with automated bioinformatics analysis may facilitate the implementation of precision medicine in Latin America. Full article
(This article belongs to the Special Issue Personalized Prevention of Gallbladder Cancer)
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Review

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22 pages, 5829 KiB  
Review
Environmental and Lifestyle Risk Factors in the Carcinogenesis of Gallbladder Cancer
by Pablo Pérez-Moreno, Ismael Riquelme, Patricia García, Priscilla Brebi and Juan Carlos Roa
J. Pers. Med. 2022, 12(2), 234; https://doi.org/10.3390/jpm12020234 - 08 Feb 2022
Cited by 11 | Viewed by 4639
Abstract
Gallbladder cancer (GBC) is an aggressive neoplasm that in an early stage is generally asymptomatic and, in most cases, is diagnosed in advanced stages with a very low life expectancy because there is no curative treatment. Therefore, understanding the early carcinogenic mechanisms of [...] Read more.
Gallbladder cancer (GBC) is an aggressive neoplasm that in an early stage is generally asymptomatic and, in most cases, is diagnosed in advanced stages with a very low life expectancy because there is no curative treatment. Therefore, understanding the early carcinogenic mechanisms of this pathology is crucial to proposing preventive strategies for this cancer. The main risk factor is the presence of gallstones, which are associated with some environmental factors such as a sedentary lifestyle and a high-fat diet. Other risk factors such as autoimmune disorders and bacterial, parasitic and fungal infections have also been described. All these factors can generate a long-term inflammatory state characterized by the persistent activation of the immune system, the frequent release of pro-inflammatory cytokines, and the constant production of reactive oxygen species that result in a chronic damage/repair cycle, subsequently inducing the loss of the normal architecture of the gallbladder mucosa that leads to the development of GBC. This review addresses how the different risk factors could promote a chronic inflammatory state essential to the development of gallbladder carcinogenesis, which will make it possible to define some strategies such as anti-inflammatory drugs or public health proposals in the prevention of GBC. Full article
(This article belongs to the Special Issue Personalized Prevention of Gallbladder Cancer)
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