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Genetics, Molecular Profiling, and Precision Medicine in Gastric and Esophagogastric...
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Genetics, Molecular Profiling, and Precision Medicine in Gastric and Esophagogastric Cancer

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (15 January 2025) | Viewed by 1279

Special Issue Editor

Dr. Francisco Tustumi

E-Mail Website
Guest Editor
Department of Gastroenterology, Universidade de São Paulo, Av. Dr. Enéas Carvalho de Aguiar, 255, São Paulo 05403-000, SP, Brazil
Interests: cancer; oncology; surgical oncology; individualized medicine; therapeutics; diagnostics; evidence-based medicine

Special Issue Information

Dear Colleagues,

Esophageal and esophagogastric cancers are among the most challenging malignancies, with high morbidity and mortality rates. Precision medicine and the use of biomarkers have increasingly played a crucial role in enhancing neoadjuvant and adjuvant treatment protocols, thereby significantly improving patient survival rates.

Molecular profiling and precision medicine have revolutionized our understanding of cancer and markedly enhanced patient care. This cutting-edge approach involves a comprehensive analysis of a tumor's genetic, molecular, and cellular characteristics. By identifying specific genetic mutations, epigenetic alterations, and protein expression patterns unique to each patient's cancer, molecular profiling allows oncologists to devise highly personalized treatment strategies. This precise tailoring of therapies enables the identification of targeted treatments, the prediction of treatment responses, and the stratification of patients into subgroups for clinical trials, leading to more effective and individualized cancer management.

This Special Issue aims to compile an extensive collection of papers on “Genetics, Molecular Profiling, and Precision Medicine in Gastric and Esophagogastric Cancer.” It will include reviews, original studies, clinical trials, pre-clinical studies, and case reports. Through this compilation, we seek to highlight the significant advancements and applications of molecular profiling in these cancers, improving diagnostic accuracy and fostering the development of innovative therapies for better patient outcomes.

Dr. Francisco Tustumi
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • stomach
  • esophagogastric junction
  • precision medicine
  • neoplasms
  • biomarkers

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Published Papers (2 papers)

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Research

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18 pages, 2729 KiB  
Article
Genetic Features of Tumours Arising in the Context of Suspected Hereditary Cancer Syndromes with RAD50, RAD51C/D, and BRIP1 Germline Mutations, Results of NGS-Reanalysis of BRCA/MMR-Negative Families
by Mónica Arranz-Ledo, Mar Infante, Enrique Lastra, Amaya Olaverri, Marta Orozco, Lucia C. Mateo, Noemí Martínez, Lara Hernández and Mercedes Durán
Genes 2025, 16(4), 458; https://doi.org/10.3390/genes16040458 - 16 Apr 2025
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Abstract
Background and Objectives: Despite the well-established role of the BRCA and mismatch repair (MMR) genes in DNA damage repair pathways, a substantial proportion of familial cancer cases still lack pathogenic variants in those genes. Next Generation Sequencing (NGS) panels have emerged as a [...] Read more.
Background and Objectives: Despite the well-established role of the BRCA and mismatch repair (MMR) genes in DNA damage repair pathways, a substantial proportion of familial cancer cases still lack pathogenic variants in those genes. Next Generation Sequencing (NGS) panels have emerged as a powerful tool to identify hereditary cancer at-risk individuals and subsequently provide them with accurate management. Materials and Methods: Families harbouring PVs in RAD50, RAD51C, RAD51D, and BRIP1 were identified by analysing a cancer-predisposing genes panel using Ion S5 system technology. A retrospective cohort of 155 families tested only for the BRCAs of MMR genes were reanalysed, prompted by an increase in familial cases or new cancer diagnoses among index cases. Results: We identified 40 families through molecular reanalysis (33 with Hereditary Breast and Ovarian Cancer (HBOC) and 7 with Lynch Syndrome (LS)), with positive test results among 155 families lacking BRCA or MMR mutations. The most frequently mutated genes after ATM and CHEK2 were BRIP1, RAD51D, and RAD51C with 16, 13, and 9 positive families, respectively. The phenotype–genotype correlations not only revealed ovarian and HER-negative breast cancer predispositions but also other cancer types, particularly lung and gastric, and individuals with a second or third distinct cancer episode. Conclusions: Broader ranges of malignancies, including gastric, lung, and bladder, have been identified among BRIP1, RAD51D, and RAD51C positive families. The results generated using NGS provide a comprehensive genetic landscape in each patient that could explain the diversity of phenotypes shown in PV families that, combined with non-genetic factors, might enable accurate surveillance and personalized treatments. NGS reanalysis doubled our diagnostic yield and was a good strategy to identify hereditary cancer families that would otherwise be overlooked. Full article
(This article belongs to the Special Issue Genetics, Molecular Profiling, and Precision Medicine in Gastric and Esophagogastric Cancer)
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Review

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30 pages, 2199 KiB  
Review
Molecular Abnormalities and Carcinogenesis in Barrett’s Esophagus: Implications for Cancer Treatment and Prevention
by Thaís Cabral de Melo Viana, Eric Toshiyuki Nakamura, Amanda Park, Kaique Flávio Xavier Cardoso Filardi, Rodrigo Moisés de Almeida Leite, Luiz Fernando Sposito Ribeiro Baltazar, Pedro Luiz Serrano Usón Junior and Francisco Tustumi
Genes 2025, 16(3), 270; https://doi.org/10.3390/genes16030270 - 25 Feb 2025
Viewed by 732
Abstract
Background: Barrett’s esophagus (BE) is described by the transformation of the normal squamous epithelium into metaplastic columnar epithelium, driven by chronic gastroesophageal reflux disease (GERD). BE is a recognized premalignant condition and the main precursor to esophageal adenocarcinoma (EAC). Understanding the molecular mechanisms [...] Read more.
Background: Barrett’s esophagus (BE) is described by the transformation of the normal squamous epithelium into metaplastic columnar epithelium, driven by chronic gastroesophageal reflux disease (GERD). BE is a recognized premalignant condition and the main precursor to esophageal adenocarcinoma (EAC). Understanding the molecular mechanisms underlying BE carcinogenesis is crucial for improving prevention, surveillance, and treatment strategies. Methods: This narrative review examines the molecular abnormalities associated with the progression of BE to EAC. Results: This study highlights inflammatory, genetic, epigenetic, and chromosomal alterations, emphasizing key pathways and biomarkers. BE progression follows a multistep process involving dysplasia and genetic alterations such as TP53 and CDKN2A (p16) mutations, chromosomal instability, and dysregulation of pathways like PI3K/AKT/mTOR. Epigenetic alterations, including aberrant microRNA expression or DNA methylation, further contribute to this progression. These molecular changes are stage-specific, with some alterations occurring early in BE during the transition to high-grade dysplasia or EAC. Innovations in chemoprevention, such as combining proton pump inhibitors and aspirin, and the potential of antireflux surgery to halt disease progression are promising. Incorporating molecular biomarkers into surveillance strategies and advancing precision medicine may enable earlier detection and personalized treatments. Conclusions: BE is the primary preneoplastic condition for EAC. A deeper understanding of its molecular transformation can enhance surveillance protocols, optimize the management of gastroesophageal reflux inflammation, and refine prevention and therapeutic strategies, ultimately contributing to a reduction in the global burden of EAC. Full article
(This article belongs to the Special Issue Genetics, Molecular Profiling, and Precision Medicine in Gastric and Esophagogastric Cancer)
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