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Advances in long-read sequencing technologies have broadened our understanding of genetic variation in the human population, uncovered new complex structural variants and offered an opportunity to elucidate new variant associations with disease.
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http://dx.doi.org/10.1038/s41592-022-01740-8 | DOI Listing |
J Clin Oncol
September 2025
Sidney Kimmel Comprehensive Cancer Center Johns Hopkins University School of Medicine, Baltimore, MD.
Purpose: To assess modified folinic acid/leucovorin, fluorouracil, irinotecan, oxaliplatin (FOLFIRINOX; mFFX) versus gemcitabine/nab-paclitaxel (GnP) in de novo metastatic pancreatic ductal adenocarcinoma (PDAC) and explore predictive biomarkers.
Patients And Methods: Patients were randomly assigned 1:1 to mFFX or GnP with exclusion of germline pathogenic variants in or . The primary end point was progression-free survival (PFS) between arms with 0.
JCO Precis Oncol
September 2025
Cell Biology and Biotherapy Unit, Istituto Nazionale Tumori IRCCS Fondazione G. Pascale, Napoli, Italy.
Purpose: Tumor comprehensive genomic profiling (CGP) may detect potential germline pathogenic/likely pathogenic (P/LP) alterations as secondary findings. We analyzed the frequency of potentially germline variants and large rearrangements (LRs) in the RATIONAL study, an Italian multicenter, observational clinical trial that collects next-generation sequencing-based tumor profiling data, and evaluated how these findings were managed by the enrolling centers.
Patients And Methods: Patients prospectively enrolled in the pathway-B of the RATIONAL study and undergoing CGP with the FoundationOne CDx assays were included in the analysis.
Elife
September 2025
Institute of Biophysical Chemistry and Center for Biomolecular Magnetic Resonance, Goethe University, Frankfurt am Main, Germany.
The p53 transcription factor family consists of the three members p53, p63, and p73. Both p63 and p73 exist in different isoforms that are well characterized. Isoforms have also been identified for p53 and it has been proposed that they are responsible for increased cancer metastasis.
View Article and Find Full Text PDFMol Biol Rep
September 2025
School of Arts and Sciences, Department of Natural and Applied Sciences, The American University of Iraq-Baghdad, Baghdad, Iraq.
The COVID-19 pandemic, caused by the continuously evolving SARS-CoV-2 virus, has presented persistent global health challenges. As novel variants emerge, many with enhanced transmissibility and immune evasion capabilities, concerns have intensified regarding the efficacy of existing vaccines and therapeutics. This review provides a comprehensive overview of the current landscape of COVID-19 vaccination, including the development and performance of monovalent and bivalent boosters, and examines their effectiveness against newly emerging variants of interest (VOIs) and variants under monitoring (VUMs), such as JN.
View Article and Find Full Text PDFCancer Sci
September 2025
Department of Surgery, Asahikawa Medical University, Asahikawa, Japan.
Despite recent advances in neoadjuvant strategies for locally advanced rectal cancer (LARC), optimal chemotherapy regimens and the role of genetic biomarkers in guiding treatment remain unclear. Moreover, predictive markers are urgently needed for radiation-sparing strategies. Therefore, we aimed to assess the predictive and prognostic value of TP53, KRAS, and APC mutations in patients with LARC undergoing neoadjuvant chemotherapy (NACT) by retrospectively analyzing 43 patients with LARC who underwent NACT without radiation.
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