Results 81 to 90 of about 44,743 (233)

Demographic and Clinical Characteristics of Early‐Onset Colorectal Cancer in Sweden and Finland: A Multicentre Retrospective Cohort Study Over Three Decades

Journal of Surgical Oncology, EarlyView.
ABSTRACT Colorectal cancer is the third most common cancer worldwide, and the proportion of individuals diagnosed under the age of 50 years, referred to as early‐onset colorectal cancer (EOCRC), is increasing. The aim of this study was to evaluate how the demographic and clinical features of EOCR in northern Sweden and Finland have changed over time ...
Melina Charalambidi, Tanja Hukkinen, Tuomas Kaprio, Sofia Edin, Mats Hjortborg, Cecilia Williams, Jaana Hagström, Caj Haglund, Richard Palmqvist, Karin Strigård, Camilla Böckelman, Ioannis Gkekas   +11 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

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

Genomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome Atlas [PDF]

, 2018
DNA damage repair (DDR) pathways modulate cancer risk, progression, and therapeutic response. We systematically analyzed somatic alterations to provide a comprehensive view of DDR deficiency across 33 cancer types.
Alvaro, Domenico, Andrew D, Cherniack, Bin, Feng, Bragazzi, MARIA CONSIGLIA, Cardinale, Vincenzo, Casey S, Greene, Chase, Miller, Chen, Wang, Christina, Yau, David A, Wheeler, Denise, Wolf, Eve, Shinbrot, Galen F, Gao, Gaudio, Eugenio, Gordon B, Mills, Gregory P, Way, Hai, Hu, Haoran, Chen, Hui, Shen, Huihui, Fan, Ilya, Shmulevich, Jianfang, Liu, John N, Weinstein, Lawrence A, Donehower, Lei, Li, Li, Ding, Linghua, Wang, Matthew H, Bailey, Michael T, Zimmermann, Mostafa, Karimi, Nyasha, Chambwe, Peilin, Jia, Peter W, Laird, Pora, Kim, Raymond J, Monnat, Rehan, Akbani, Shaojun, Zhang, Theo A, Knijnenburg, Yang, Shen, Yonghong, Xiao, Yuexin, Liu, Zhongming, Zhao   +41 more
core   +1 more source

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 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

Genetic analysis of primary lung interdigitating dendritic cell sarcomas

The Journal of Pathology, EarlyView.
Abstract Interdigitating dendritic cell sarcomas (IDCSs) are rare tumors that commonly arise in the hematopoietic system and rarely outside. The genetic drivers of IDCS carcinogenesis are unknown; therefore, therapeutic options are limited. We investigated somatic gene mutations and copy‐number alterations (CNAs) in nine IDCSs arising in the lung by ...
Mikhail S Ermakov, Juliana Faria Filipe, Sylvia Eidenhammer, German Ott, Iris Halbwedl, Karl Kashofer, Helmut Popper   +6 more
wiley   +1 more source

Cloning of Rat MLH1 and Expression Analysis of MSH2, MSH3, MSH6, and MLH1 during Spermatogenesis

Genomics, 1999
The mismatch repair system has been highly conserved in various species. In eukaryotic cells, the Mut S and Mut L homologues play crucial roles in both DNA mismatch repair and meiotic recombination. A full-length rat cDNA clone for rat MLH1 has been constructed using the RT-PCR method.
Vani, Geeta R, Varghese, CM, Rao, MRS
openaire   +2 more sources

Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation [PDF]

Clinical Epigenetics, 2019
AbstractConstitutionalMLH1methylation (epimutation) is a rare cause of Lynch syndrome. Low-level methylation (≤ 10%) has occasionally been described. This study aimed to identify low-level constitutionalMLH1epimutations and determine its causal role in patients withMLH1-hypermethylated colorectal cancer.Eighteen patients withMLH1-hypermethylated ...
Estela Dámaso, Júlia Canet-Hermida, Gardenia Vargas-Parra, Àngela Velasco, Fátima Marín, Esther Darder, Jesús del Valle, Anna Fernández, Àngel Izquierdo, Gemma Mateu, Glòria Oliveras, Carmen Escribano, Virgínia Piñol, Hugo-Ikuo Uchima, José Luis Soto, Megan Hitchins, Ramon Farrés, Conxi Lázaro, Bernat Queralt, Joan Brunet, Gabriel Capellá, Marta Pineda   +21 more
openaire   +7 more sources