Results 11 to 20 of about 33,127 (201)

Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review

BMC Cancer, 2018
Background Lynch syndrome is an autosomal dominant inherited disease caused by germline mutations in mismatch repair genes. Analysis for microsatellite instability (MSI) and immunohistochemistry (IHC) of protein expressions of disease-associated genes is
Takanori Yokoyama, Kazuhiro Takehara, Nao Sugimoto, Keika Kaneko, Etsuko Fujimoto, Mika Okazawa-Sakai, Shinichi Okame, Yuko Shiroyama, Takashi Yokoyama, Norihiro Teramoto, Shozo Ohsumi, Shinya Saito, Kazuho Imai, Kokichi Sugano   +13 more
doaj   +2 more sources

Càncer colorectal hereditari: Aplicacions diagnòstiques de l'estudi de la dosi dels gens APC, MLH1 i MSH2 [PDF]

, 2009
[cat] Les síndromes de càncer colorectal (CCR) hereditari representen entre un 3% i un 5% de tots els casos de CCR i inclouen tots aquells individus amb un elevat grau d'agregació familiar.
Castellsagué Torrents, Ester
core   +6 more sources

Tissue-specific reduction in MLH1 expression induces microsatellite instability in intestine of Mlh1+/- mice [PDF]

, 2021
Tumors of Lynch syndrome (LS) patients display high levels of microsatellite instability (MSI), which results from complete loss of DNA mismatch repair (MMR), in line with Knudson’s two-hit hypothesis.
Tuominen, Minna, Aska, Elli, Elli-Mari Aska, Kul S. Shrestha, Minna M. Tuominen, Liisa Kauppi, Shrestha, Kul, Kauppi, Liisa   +7 more
core   +1 more source

A Lynch Syndrome Family With Germline <i>MLH1</i> c.931A>G Showing Preserved Tumor MMR Immunostaining but MSI-H Status: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Lynch syndrome screening may be complicated by discordant tumor testing results. We report a family carrying the germline MLH1 c.931A>G (p.Lys311Glu) variant in which both the proband and his father had colorectal tumors with retained mismatch repair protein expression by immunohistochemistry but microsatellite instability‐high status on tumor
Cai J, Li Z, Han T, Guo Y, Du Y, Liu D, Liu X.   +6 more
europepmc   +2 more sources

European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

BJS (British Journal of Surgery), EarlyView., 2020
Recommendations for clinical and molecular identification of LS, surgical and endoscopic management of LS‐associated colorectal cancer and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum.
T. T. Seppälä, A. Latchford, I. Negoi, A. Sampaio Soares, R. Jimenez‐Rodriguez, L. Sánchez‐Guillén, D. G. Evans, N. Ryan, E. J. Crosbie, M. Dominguez‐Valentin, J. Burn, M. Kloor, M. von Knebel Doeberitz, F. J. B. van Duijnhoven, P. Quirke, J. R. Sampson, P. Møller, G. Möslein, on behalf of the European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)   +18 more
wiley   +1 more source

CTGF and MLH1 Gene Expression Levels in Colorectal Cancer Tumor Tissues and Adjacent Normal Tissues in Patients in Golestan Province [PDF]

Journal of Mazandaran University of Medical Sciences, 2023
Background and purpose: Colorectal cancer is the third most common type of cancer in terms of incidence and the second most common cause of cancer-related death worldwide.
Amin Lotfvarzi, Farkhondeh Nemati
doaj  

Micronucleus-specific histone H1 is required for micronuclear chromosome integrity in Tetrahymena thermophila. [PDF]

PLoS ONE, 2017
Histone H1 molecules play a key role in establishing and maintaining higher order chromatin structures. They can bind to linker DNA entering and exiting the nucleosome and regulate transcriptional activity.
Juxia Qiao, Jing Xu, Tao Bo, Wei Wang
doaj   +1 more source

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

, 2020
Constitutional MLH1 methylation (epimutation) is a rare cause of Lynch syndrome. Low-level methylation (
Canet Hermida, Júlia, Hitchins, Megan, Queralt, Bernat, Velasco, Àngela, Darder, Esther, Escribano, Carmen, Capellá, G. (Gabriel), Soto, José Luis, Marín, Fátima, Izquierdo i Font, Àngel Xavier, Piñol, Virgínia, Oliveras, Glòria, Vargas Parra, Gardenía María, Mateu, Gemma, Pineda Riu, Marta, Uchima Koecklin, Hugo Ikuo, Farrés, Ramon, Fernández, Anna, Lázaro García, Conxi, Dámaso, Estela, Valle Domínguez, Jesús del, Brunet, Joan   +21 more
core   +2 more sources

Mlh2 is an accessory factor for DNA mismatch repair in Saccharomyces cerevisiae. [PDF]

PLoS Genetics, 2014
In Saccharomyces cerevisiae, the essential mismatch repair (MMR) endonuclease Mlh1-Pms1 forms foci promoted by Msh2-Msh6 or Msh2-Msh3 in response to mispaired bases. Here we analyzed the Mlh1-Mlh2 complex, whose role in MMR has been unclear.
Christopher S Campbell, Hans Hombauer, Anjana Srivatsan, Nikki Bowen, Kerstin Gries, Arshad Desai, Christopher D Putnam, Richard D Kolodner   +7 more
doaj   +1 more source

Combined MLH1/MSH2/MSH6 assessment by IHC and RT-qPCR: Differential expression analysis and incremental value for pathological risk stratification in colorectal cancer [PDF]

Journal of Medical Biochemistry
Background: Mismatch repair (MMR) status is routinely assessed in colorectal cancer (CRC), yet the laboratory value of combining multiple MMR targets across platforms for risk stratification requires verification under real-world testing conditions. This
Zhang Yi, Li Xin, Ran Jing, Zuo Ningchuan   +3 more
doaj   +1 more source