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The 50th Anniversary of the Discovery of Reciprocal Translocation between Chromosome 9 and 22: The Impact on Molecular and Genomic Knowledge on Cancer

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Oncology".

Deadline for manuscript submissions: 20 July 2025 | Viewed by 1069

Special Issue Editors


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Guest Editor
Faculty of Medicine, Laboratory of Oncobiology and Hematology, Institute for Clinical and Biomedical Research (iCBR)—Area of Environment Genetics and Oncobiology (CIMAGO), University of Coimbra, 3000-548 Coimbra, Portugal
Interests: hematologic diseases; oncobiology; oncogenetics/epigenetics; nutrition; drug resistance; DNA damage repair; cancer metabolism; targeted therapies; translational research; personalized oncology
Special Issues, Collections and Topics in MDPI journals

E-Mail Website
Guest Editor
Faculty of Medicine, Laboratory of Oncobiology and Hematology, Institute for Clinical and Biomedical Research (iCBR) – Area of Environment Genetics and Oncobiology (CIMAGO), University of Coimbra, 3000-548 Coimbra, Portugal
Interests: oncobiology; drug resistance; hematology; microRNAs; targeted therapies
Special Issues, Collections and Topics in MDPI journals

E-Mail Website
Guest Editor
Faculty of Medicine, Laboratory of Oncobiology and Hematology, Institute for Clinical and Biomedical Research (iCBR) – Area of Environment Genetics and Oncobiology (CIMAGO), University of Coimbra, 3000-548 Coimbra, Portugal
Interests: hematology; oncobiology; cellular and molecular mechanism of cancer; drug resistance; biomarkers; targeted therapies; translational research; personalized oncology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The year 2023 marks the 50th anniversary of the discovery of the reciprocal translocation between chromosomes 9 and 22 by Janet Rowley, which is responsible for the Philadelphia chromosome. Subsequent molecular analyses involving multiple laboratories have revealed that this translocation fuses the BCR gene on chromosome 22 with the ABL1 gene on chromosome 9, leading to the fusion gene BCR/ABL1. Geneticists later discovered that translocations could disrupt or dysregulate gene function depending on the chromosome breakpoints, leading to at least three BCR/ABL1 oncoproteins. These molecular rearrangements, in many cases, are the leading causes of various cancers. Besides the impact on diagnosis and prognosis, this discovery also had implications for treatment with the development of the first targeted therapy: the tyrosine kinase inhibitor imatinib. Hundreds of translocations and other mutations have now been associated with cancer, and some of them are targeted with new drugs. Researchers worldwide continue to identify new molecular rearrangements in cancer, hoping that this information will translate into new cancer treatments and novel cancer biomarkers.

This Special Issue, dedicated to Janet Rowley's work, will focus on the latest insights into the molecular and genomic knowledge on cancer and its clinical impact. Original research papers, reviews, and case studies reporting the molecular and genomic bases of cancer as well as hereditary cancer syndromes, the implications of genomic alterations on diagnosis, prognosis, and therapy monitoring, or potential therapeutic implications of molecular and genomic alterations are herein welcome.

Dr. Ana Cristina Gonçalves
Dr. Raquel Alves
Prof. Dr. Ana Bela Sarmento Ribeiro
Guest Editors

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Keywords

  • cancer genomics
  • cancer biomarkers
  • cancer pathogenesis
  • precision oncology

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Published Papers (1 paper)

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Research

15 pages, 513 KiB  
Article
Genetic Variants in Oxidative Stress-Related Genes and Their Impact on Prognosis and Treatment Response in Chronic Myeloid Leukemia Patients
by Raquel Alves, Filipa Ventura, Joana Jorge, Gilberto Marques, Margarida Coucelo, Joana Diamond, Bárbara Oliveiros, Amélia Pereira, Paulo Freitas-Tavares, António M. Almeida, Ana Cristina Gonçalves and Ana Bela Sarmento-Ribeiro
Int. J. Mol. Sci. 2025, 26(12), 5682; https://doi.org/10.3390/ijms26125682 - 13 Jun 2025
Viewed by 253
Abstract
Chronic myeloid leukemia (CML) is a clonal myeloproliferative neoplasia characterized by the BCR::ABL1 fusion gene, which codifies the BCR-ABL protein with increased tyrosine kinase activity. Despite the clinical results for the outstanding tyrosine kinase inhibitors (TKIs), drug resistance is a problem in CML [...] Read more.
Chronic myeloid leukemia (CML) is a clonal myeloproliferative neoplasia characterized by the BCR::ABL1 fusion gene, which codifies the BCR-ABL protein with increased tyrosine kinase activity. Despite the clinical results for the outstanding tyrosine kinase inhibitors (TKIs), drug resistance is a problem in CML management. Genetic variants that alter redox homeostasis by changing antioxidant enzyme expression or activity may influence patient responses and could enhance patient stratification. We aimed to assess the association of SOD2, CAT GPX1, NRF2, and KEAP1 genetic variants with TKI response and disease prognosis. For this purpose, we genotyped the variants rs4880 (SOD2), rs1050450 (GPX1), rs1001179 (CAT), rs6721961, rs4893819, rs35652124, rs6706649, rs13001694 (NFE2L2), and rs113540846 (KEAP1) via PCR in 187 CML patients. Our results show that variants in genes related to oxidative stress influence the development and degree of TKI resistance (allele G and GG genotypes of GPX1 and CT genotype of NFE2L2 rs4893819), the appearance of mutations in the BCR::ABL1 gene (AG genotype of NFE2L2 rs13001694 and genetic profile GGCTTCCCGG of the NFE2L2/KEAP1 axis), disease evolution (AG genotype of SOD2 and CT genotype of NFE2L2 rs4893819), and overall survival (CC genotype of CAT and GG genotype of NFE2L2 rs13001694) of CML patients. Our study found that variants in oxidative stress-related genes impact treatment response and outcomes in CML. Full article
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