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Msh2-Msh3 DNA-binding is not sufficient to promote trinucleotide repeat expansions in Saccharomyces cerevisiae.
Genetics
January 2025
Department of Biochemistry, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14203, USA.
Mismatch repair (MMR) is a highly conserved DNA repair pathway that recognizes mispairs that occur spontaneously during DNA replication and coordinates their repair. In Saccharomyces cerevisiae, Msh2-Msh3 and Msh2-Msh6 initiate MMR by recognizing and binding insertion deletion loops (in/dels) up to ∼ 17 nucleotides (nt.) and base-base mispairs, respectively; the two complexes have overlapping specificity for small (1-2 nt.
View Article and Find Full Text PDFImpact of population screening for Lynch syndrome insights from the All of Us data.
Nat Commun
January 2025
Division of Digestive and Liver Diseases, Herbert Irving Comprehensive Cancer Center, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.
Lynch Syndrome (LS) is a common genetic cancer condition that allows for personalized cancer prevention and early cancer detection in identified gene carriers. We used data from the All of Us (AOU) Research Initiative to assess the prevalence of LS in the general U.S.
View Article and Find Full Text PDFDNA mismatch repair (MMR) gene mosaicism is rare in people with MMR-deficient cancers.
Gastroenterology
January 2025
Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Melbourne, VIC, 3010, Australia; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Melbourne, VIC, 3010, Australia; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, VIC, 3000, Australia.
Biomarkers.
Alzheimers Dement
December 2024
Penn Alzheimer's Disease Research Center, University of Pennsylvania, Philadelphia, PA, USA.
Background: Atypical presentations of Alzheimer's disease (AD), which demonstrate more cortical involvement relative to medial temporal lobe (MTL), are generally associated with younger age of onset. Age, defined chronologically, is a primary driver of AD pathology and neurodegeneration. However, some young onset cases are typical, amnestic presentations and some older onset cases present more cortical atrophy.
View Article and Find Full Text PDFPrognostic Features and Potential for Immune Therapy in Metastatic Mismatch Repair-Deficient Colorectal Cancer: A Retrospective Analysis of a Large Consecutive Population-Based Patient Series.
Cancer Med
January 2025
Translational Medicine Research Unit, Medical Research Center Oulu, Oulu University Hospital, and University of Oulu, Oulu, Finland.
Background: Immune checkpoint inhibition therapies have provided remarkable results in numerous metastatic cancers, including mismatch repair-deficient (dMMR) colorectal cancer (CRC). To evaluate the potential for PD-1 blockade therapy in a large population-based cohort, we analyzed the tumor microenvironment and reviewed the clinical data and actualized treatment of all dMMR CRCs in Central Finland province between 2000 and 2015.
Material And Methods: Of 1343 CRC patients, 171 dMMR tumors were identified through immunohistochemical screening.
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