Results 131 to 140 of about 42,200 (256)

Next-generation sequencing of prostate cancer: genomic and pathway alterations, potential actionability patterns, and relative rate of use of clinical-grade testing. [PDF]

open access: yes, 2019
Despite being one of the most common cancers, treatment options for prostate cancer are limited. Novel approaches for advanced disease are needed. We evaluated the relative rate of use of clinical-grade next generation sequencing (NGS) in prostate cancer,
Carter, Jennifer L   +4 more
core  

Blurring the Lines: Co‐Occurrence of MSH6 Variant and MLH1 Constitutional Epimutation in a Young Colorectal Cancer Patient

open access: yesClinical Genetics, Volume 109, Issue 2, Page 363-367, February 2026.
We report a unique case of early‐onset colorectal cancer with both a germline MSH6 variant and constitutional mosaic MLH1 epimutation, revealing a possible digenic mechanism underlying Lynch syndrome. This case highlights the diagnostic complexity of mismatch repair deficiency and the value of integrative tumor–germline molecular profiling.
Aasem Abu Shtaya   +7 more
wiley   +1 more source

Dynamic DNA binding licenses a repair factor to bypass roadblocks in search of DNA lesions

open access: yesNature Communications, 2016
DNA-binding proteins need to scan the genome to find their targets though how this occurs in the crowded nuclear environment is poorly understood. Here the authors use single-molecular fluorescence to show the repair complex Msh2-Msh3 can hop over blocks
Maxwell W. Brown   +5 more
doaj   +1 more source

DNA Polymerases as Potential Therapeutic Targets for Cancers Deficient in the DNA Mismatch Repair Proteins MSH2 or MLH1 [PDF]

open access: bronze, 2010
Sarah A. Martin   +9 more
openalex   +1 more source

MSH2 is not required for either maintenance of DNA methylation or repeat contraction at the FMR1 locus in fragile X syndrome or the FXN locus in Friedreich’s ataxia

open access: yesEpigenetics & Chromatin
Background Repeat-induced epigenetic changes are observed in many repeat expansion disorders (REDs). These changes result in transcriptional deficits and/or silencing of the associated gene.
Jessalyn Grant-Bier   +4 more
doaj   +1 more source

Frequency of Rearrangements in Lynch Syndrome Cases Associated with MSH2 : Characterization of a New Deletion Involving both EPCAM and the 5′ Part of MSH2 [PDF]

open access: bronze, 2011
Lucía Pérez‐Cabornero   +6 more
openalex   +1 more source

Supplementary Table 3 from Gene Conversion Is a Frequent Mechanism of Inactivation of the Wild-Type Allele in Cancers from <i>MLH1/MSH2</i> Deletion Carriers

open access: gold, 2023
Jian Zhang   +8 more
openalex   +1 more source

Functional Characterization of MutS Homologue Mismatch Repair Proteins and their Variants [PDF]

open access: yes, 2012
Lynch syndrome (LS) is one of the most common hereditary cancer syndromes and may lead to cancer development, mainly in colon or in endometrium, for 20 years earlier than in general population. LS is an autosomal dominantly inherited disorder, associated
Kantelinen, Jukka Petteri
core  

A new subtype of Lynch syndrome associated with MSH2 c.354T>A (p. Y118*) identified in a Chinese family: case report and literature review

open access: yesFrontiers in Genetics
BackgroundLynch syndrome (LS) is an autosomal dominant inherited disorder caused by mutations in mismatch repair genes. Genetic counseling is crucial for the prevention and treatment of LS, as individuals with these mutations have an increased lifetime ...
Lan Zhong   +13 more
doaj   +1 more source

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