Results 131 to 140 of about 32,048 (238)

Founder mutation in Lynch syndrome [PDF]

, 2016
El síndrome de Lynch es la más frecuente de las neoplasias colorrectales hereditarias. Se origina por mutaciones germinales deletéreas familia-específicas en los genes que codifican proteínas de reparación del ADN: MLH1 (homólogo humano de mutL), MSH2 y ...
Cajal, Andrea, Ferro, Fabiana Alejandra, Kalfayan, Pablo G., Piñero, Tamara Alejandra, Santino, Juan Pablo, Solano, Angela Rosario, Vaccaro, Carlos A., Verzura, Alicia   +7 more
core  

Immunohistochemical analysis of mismatch repair proteins in Iranian Colorectal Cancer patients at risk for Lynch syndrome [PDF]

, 2015
Background: Hereditary non-polyposis colorectal cancer (HNPCC) is a common hereditary cancer predisposing syndrome has molecular and clinicopathological features still have remained ambiguous within Iranian populations.
Emami, Mohammad Hassan., Hashemzadeh-Chaleshtori, Morteza., Naimi, Azar., Salehi, Rasoul., Zeinalian, Mehrdad.   +4 more
core   +1 more source

Construction of Fluorescently-Tagged and Adenosine Nucleotide-Binding Mutations of the Human MutS Homolog Heterodimer MSH2-MSH3 [PDF]

, 2009
DNA mismatch repair (MMR) is a highly conserved system for correcting mispaired nucleotides arising from misincorporation errors during DNA replication, genetic recombination, and chemical or physical damage.
Cook, Christopher Paul
core  

MSH6 Gene [PDF]

, 2020
openaire   +1 more source

MSH6 Negative [PDF]

, 2020
openaire   +1 more source

Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families

World Journal of Surgical Oncology
Background Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome. This condition is characterized by germline variants in DNA mismatch repair (MMR) genes, including MLH1, MSH2, MSH6, and PMS2.
Juyi Li, Haichun Ni, Xiufang Wang, Wenzhuo Cheng, Li Li, Yong Cheng, Chao Liu, Yuanyuan Li, Aiping Deng   +8 more
doaj   +1 more source

Več obrazov sindroma Lynch

Onkologija, 2013
Na Oddelku za molekularno diagnostiko Onkološkega inštituta Ljubljana smo uvedli testiranje zarodnih mutacij vgenu MSH6. Mutacije v tem genu so povezane z Lynchevim sindromom in predstavljajo povečano verjetnost za nastanekraka na debelem črevesu in ...
Uršula Prosenc, Srdjan Novaković
doaj  

Endoscopic surveillance for colorectal cancer and its precursor lesions in Lynch syndrome; time for some policy shifts?

Hereditary Cancer in Clinical Practice
Background While numerous studies have demonstrated variations in colorectal cancer (CRC) incidence among Lynch Syndrome (LS)-associated germline pathogenic variant (gPV) carriers, limited data are available regarding tailoring surveillance and treatment
Romy N Kuipers, Marissa F Burggraaff, Michiel HJ Maas, Dorien TJ van der Biessen – van Beek, Mariëtte CA van Kouwen, Tanya M Bisseling   +5 more
doaj   +1 more source

Optimizing of protocols regarding immunohistochemic detection of mismatch repair-proteins

Bioingeniøren, 2019
Background: Immunohistochemical staining can be used to detect mismatch repair proteins such as MLH1, PMS2, MSH2 and MSH6. These proteins are normally expressed in the cell nucleus.
Eirin Amundlien, Renate Sandberg, Lise Eid Wålberg   +2 more
doaj  

Papillary Thyroid Carcinoma, Bilateral Macronodular Adrenal Cortical Disease-Related Cortisol Excess, and Femoral Enchondroma: A Novel Phenotype-Genotype Based on Next-Generation Sequencing (Variants of <i>APC, MSH6</i>, and <i>CACNA1S</i> Genes). [PDF]

Diagnostics (Basel)
Carsote M, Schipor SV, Dumitrascu A, Gheorghe AM, Sima OC, Manda D, Costachescu M, Muresan A, Preda EM, Terzea D.   +9 more
europepmc   +1 more source