Results 81 to 90 of about 46,287 (264)

Epigenetic differences in the tumor suppressor genes MLH1 and p16INK4a between Nepalese and Swedish patients with colorectal cancer

Innovative Surgical Sciences
Colorectal cancer (CRC) is one of the most prevalent cancer types worldwide, exhibiting significant variance in incidence rates across different ethnicities and geographical regions.
Ghimire Bikal, Kurlberg Göran, Falk Peter, Singh Yogendra, Wettergren Yvonne   +4 more
doaj   +1 more source

The mismatch repair and meiotic recombination endonuclease Mlh1-Mlh3 is activated by polymer formation and can cleave DNA substrates in trans. [PDF]

PLoS Biology, 2017
Crossing over between homologs is initiated in meiotic prophase by the formation of DNA double-strand breaks that occur throughout the genome. In the major interference-responsive crossover pathway in baker's yeast, these breaks are resected to form 3 ...
Carol M Manhart, Xiaodan Ni, Martin A White, Joaquin Ortega, Jennifer A Surtees, Eric Alani   +5 more
doaj   +1 more source

Blurring the Lines: Co-Occurrence of MSH6 Variant and MLH1 Constitutional Epimutation in a Young Colorectal Cancer Patient. [PDF]

Clin Genet
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.
Shtaya AA, Hadid Y, Mahamid A, Kidron D, Halpern N, Shalata A, Levi Z, Goldberg Y.   +7 more
europepmc   +2 more sources

Signalling cell cycle arrest and cell death through the MMR System [PDF]

, 2006
Loss of DNA mismatch repair (MMR) in mammalian cells, as well as having a causative role in cancer, has been linked to resistance to certain DNA damaging agents including clinically important cytotoxic chemotherapeutics.
Brown, R., O'Brien, V.
core   +1 more source

Organ‐sparing strategies in patients with MSI/dMMR tumors including Lynch syndrome: Current state of the art and future perspectives for clinical decision‐making

International Journal of Cancer, EarlyView.
Abstract Deficiency in DNA mismatch repair (dMMR) is a common pathway of carcinogenesis across different tumor types and confers a characteristic microsatellite instability‐high (MSI‐H) molecular phenotype. The MSI‐H/dMMR phenotype may arise from an inherited pathogenic variant in the context of Lynch syndrome and is most frequently observed in ...
Martin Duval, Antoine Dardenne, Thomas Samaille, Leo Mas, Jérémie H. Lefèvre, Xavier Dray, Mathilde Wagner, Romain Cohen, Thierry André   +8 more
wiley   +1 more source

Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2genes in yeast [PDF]

BMC Cancer, 2009
Abstract Background Loss of DNA mismatch repair (MMR) in humans, mainly due to mutations in the hMLH1 gene, is linked to hereditary nonpolyposis colorectal cancer (HNPCC). Because not all MLH1 alterations result in loss of MMR function, accurate characterization of variants and their classification in terms of their ...
Hudler Petra, Zupanec Neja, Comino Aleksandra, Vogelsang Matjaz, Komel Radovan   +4 more
openaire   +3 more sources

The MLH1 2101C>A (Q701K) variant increases the risk of gastric cancer in Chinese males

BMC Gastroenterology, 2011
Background Gastric cancer is one of the most common cancers affecting East Asians, and MLH1 could play a critical role during tumorigenesis in this condition.
Zhi Wenxian, Xue Binshuang, Wang Lifeng, Xiao Nong, He Qiong, Wang Yaping, Fan Yimei   +6 more
doaj   +1 more source

Spreading of Alu methylation to the promoter of the MLH1 gene in gastrointestinal cancer. [PDF]

PLoS ONE, 2011
The highly repetitive Alu retroelements are regarded as methylation centres in the genome. Methylation in the gene promoters could be spreading from them.
Xiyin Wang, Jing Fan, Dong Liu, Siqing Fu, Sigurdur Ingvarsson, Huiping Chen   +5 more
doaj   +1 more source

Outcomes from the English National Lynch Syndrome transformation project

International Journal of Cancer, EarlyView.
What's New? The elevated cancer risk conferred by Lynch syndrome can be mitigated through preventive interventions. However, Lynch syndrome often goes underdiagnosed. The National Lynch Syndrome Transformation Project in England aims to ensure that patients newly diagnosed with colorectal or endometrial cancer are offered testing for the syndrome ...
Kevin J. Monahan, Paul Fleming, Neil A. J. Ryan, Laura Monje‐Garcia, Ruth Armstrong, David N. Church, Jackie Cook, Fiona Lalloo, Sally Lane, Frank D. McDermott, Tracie Miles, Corinne Mallinson, Steven A. Hardy, Simone Gelinas, Francesca Faravelli, Frances Elmslie, Adam C. Shaw   +16 more
wiley   +1 more source

Primary constitutional MLH1 epimutations: a focal epigenetic event [PDF]

British Journal of Cancer, 2018
Constitutional MLH1 epimutations are characterised by monoallelic methylation of the MLH1 promoter throughout normal tissues, accompanied by allele-specific silencing. The mechanism underlying primary MLH1 epimutations is currently unknown. The aim of this study was to perform an in-depth characterisation of constitutional MLH1 epimutations targeting ...
Dámaso, Estela, Castillejo, Adela, Arias, María del Mar, Canet-Hermida, Julia, Navarro, Matilde, del Valle, Jesús, Campos, Olga, Fernández, Anna, Marín, Fátima, Turchetti, Daniela, García-Díaz, Juan de Dios, Lázaro, Conxi, Genuardi, Maurizio, Rueda, Daniel, Alonso, Ángel, Soto, Jose Luis, Hitchins, Megan, Pineda, Marta, Capellá, Gabriel   +18 more
openaire   +11 more sources