Breast cancer (BC) is a heterogeneous disease which many studies have classified in at least four molecular subtypes: Luminal A, Luminal B, HER2-Enriched, and Basal-like (including triple-negative breast cancer, TNBC). These subtypes provide information to stratify patients for better prognostic predictions and treatment selection. Individuals vary in their sensitivities to carcinogens due to differences in their DNA repair capacity (DRC) levels. Although our previous case-control study established low DRC (in terms of NER pathway) as a BC risk factor, we aim to study this effect among the molecular subtypes. Therefore, the objectives of this study include investigating whether DRC varies among molecular subtypes and testing any association regarding DRC. This study comprised 267 recently diagnosed women with BC (cases) and 682 without BC (controls). Our results show a substantial variability in DRC among the molecular subtypes, with TNBC cases ( = 47) having the lowest DRC (-value < 0.05). Almost 80 percent of BC cases had a DRC below the median (4.3%). Low DRC was strongly associated with the TNBC subtype (OR 7.2; 95% CI 3.3, 15.7). In conclusion, our study provides the first report on the variability among the molecular subtypes and provides a hypothesis based on DRC levels for the poor prognosis of TNBC.
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http://dx.doi.org/10.3390/ijms18071505 | DOI Listing |
Nat Cancer
January 2025
Dept. of Neuropathology, University Hospital Heidelberg, Heidelberg, Germany.
The diagnostic landscape of brain tumors integrates comprehensive molecular markers alongside traditional histopathological evaluation. DNA methylation and next-generation sequencing (NGS) have become a cornerstone in central nervous system (CNS) tumor classification. A limiting requirement for NGS and methylation profiling is sufficient DNA quality and quantity, which restrict its feasibility.
View Article and Find Full Text PDFSci Rep
January 2025
USDA, Agricultural Research Service, US National Poultry Research Center, 934 College Station Road, Athens, GA, 30605, USA.
Marek's disease (MD), a T cell lymphoma disease in chickens, is caused by the Marek's disease virus (MDV) found ubiquitously in the poultry industry. Genetically resistant Line 6 (L6) and susceptible Line 7 (L7) chickens have been instrumental to research on avian immune system response to MDV infection. In this study we characterized molecular signatures unique to splenic immune cell types across different genetic backgrounds 6 days after infection.
View Article and Find Full Text PDFNat Commun
January 2025
Department of Pharmacy and Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN, USA.
ETV6::RUNX1 is the most common fusion gene in childhood acute lymphoblastic leukemia (ALL) associated with favorable prognosis, but the optimal therapy for this subtype remains unclear. Profiling the genomic and pharmacological landscape of 194 pediatric ETV6::RUNX1 ALL cases, we uncover two transcriptomic clusters, C1 (61%) and C2 (39%). Compared to C1, the C2 subtype features higher white blood cell counts and younger age at diagnosis, as well as better early treatment responses.
View Article and Find Full Text PDFJ Clin Exp Hematop
January 2025
Department of Diagnostic Pathology, Fukushima Medical University School of Medicine, Fukushima, Japan.
Primary central nervous system (CNS) lymphomas account for 1.9-3% of all brain tumors, with the majority being histologically classified as primary large B-cell lymphoma of the CNS (PCNS-LBCL). PCNS-LBCL is characterized by mature germinal center-exit B cells, and most cases of this phenotype are classified as activated B-cell-like phenotype according to gene expression profiling, or as non-germinal center B-cell-like phenotype (non-GCB type) according to Hans's algorithm.
View Article and Find Full Text PDFActa Trop
January 2025
Associate Professor, Department of Microbiology, Karaj Branch, Islamic Azad University, Karaj, Iran.
The primary objective of this study was to evaluate the genetic diversity of Blastocystis. Additionally, it aimed to explore, for the first time in Iran, the potential association between Blastocystis infection and ABO blood groups. Another focus was to examine the relationship between Blastocystis subtypes and blood groups, an often overlooked risk factor, within the population of Alborz Province, Iran.
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