Results 1 to 10 of about 29,309 (251)

Colorectal cancers associated with mismatch repair deficiency [PDF]

Frontiers in Medicine
This review aims to summarize the latest updates in the prevention, diagnosis, treatment and management of colorectal cancers (CRCs) associated with mutation(s) or alteration(s) in the DNA mismatch repair (MMR) genes.
Mingzhu Sun, Kevin Monahan, Kevin Monahan, Jayne Moquet, Stephen Barnard   +4 more
doaj   +5 more sources

Mismatch Repair Deficiency and Microsatellite Instability

Encyclopedia, 2022
Mismatch repair deficiency (MMRd) is caused by the biallelic inactivation of an MMR gene, which can be attributed either to an inherited or an acquired pathway.
Sandra Schöniger, Josef Rüschoff
doaj   +4 more sources

Unexplained mismatch repair deficiency: Case closed

HGG Advances, 2023
Summary: To identify Lynch syndrome (LS) carriers, DNA mismatch repair (MMR) immunohistochemistry (IHC) is performed on colorectal cancers (CRCs). Upon subsequent LS diagnostics, MMR deficiency (MMRd) sometimes remains unexplained (UMMRd).
Ellis L. Eikenboom, Sarah Moen, Lotte van Leeuwen, Willemina R.R. Geurts-Giele, Carli M.J. Tops, Tjakko J. van Ham, Winand N.M. Dinjens, Hendrikus J. Dubbink, Manon C.W. Spaander, Anja Wagner   +9 more
doaj   +4 more sources

Biallelic Mismatch Repair Deficiency in an Adolescent Female [PDF]

Case Reports in Genetics, 2018
Constitutional (Biallelic) Mismatch Repair Deficiency is a rare autosomal recessive disorder characterized by numerous cancers presenting as early as the first decade of life.
Amber Hildreth, Mark A. Valasek, Irene Thung, Thomas Savides, Mamata Sivagnanam, Sonia Ramamoorthy, Sherry Huang   +6 more
doaj   +3 more sources

Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors

Frontiers in Oncology, 2023
IntroductionLynch syndrome-associated cancer develops due to germline pathogenic variants in one of the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 or PMS2.
Maria Rasmussen, Peter Sowter, Richard Gallon, Jon Ambæk Durhuus, Jon Ambæk Durhuus, Christine Hayes, Ove Andersen, Mef Nilbert, Lone Schejbel, Estrid Høgdall, Mauro Santibanez-Koref, Michael S. Jackson, John Burn, Christina Therkildsen   +13 more
doaj   +3 more sources

Constitutional mismatch repair-deficiency syndrome

Haematologica, 2010
The mismatch repair (MMR) machinery contributes to genome integrity and the MLH1 , MSH2 , MSH6 and PMS2 genes play a crucial role in this process. MMR corrects single base-pair mismatches and small insertion-deletion loops that arise during replication.
Katharina Wimmer, Christian P. Kratz
doaj   +2 more sources

DNA Mismatch Repair Deficiency as a Biomarker in Sarcoma. [PDF]

Surg Oncol Insight
Lynch syndrome (LS) is a cancer predisposition syndrome caused by a germline loss-of-function mutation in a mismatch repair (MMR) gene. While sarcomas are not classically considered LS cancers, we investigated the MMR status and clinical features of sarcomas in LS patients to help inform optimal treatment strategies.A prospectively maintained ...
Denu RA, Quintana-Perez CD, Wangsiricharoen S, Ingram DR, Wani KM, Lazar AJ, Ratan R, Roland CL, You YN.   +8 more
europepmc   +4 more sources

Constitutional Mismatch Repair Deficiency Syndrome in a patient from India

Clinical Case Reports, 2020
This report highlights an extremely rare genetic condition constitutional mismatch repair deficiency (CMMRD) in an Indian pediatric patient with dual malignancies, who suffered from transient encephalopathy, a rare side effect of the drug Nivolumab and ...
Chandramallika Paul, Subhosmito Chakraborty, Sarit Chakraborty, Kalyan Goswami   +3 more
doaj   +2 more sources

Clinical Implications of Mismatch Repair Deficiency in Pancreatic Ductal Adenocarcinoma [PDF]

Cancer Medicine
Background Pancreatic cancer is a highly aggressive and lethal disease, characterized by a limited response to chemotherapy and overall poor prognosis.
Zachary Kaplan, Elizabeth Prezioso, Aditi Jain, Harish Lavu, Charles J. Yeo, Wilbur B. Bowne, Avinoam Nevler   +6 more
doaj   +2 more sources

Mismatch repair deficiency reshapes glioblastoma through immune suppression rather than hypermutation [PDF]

The Journal of Clinical Investigation
Mismatch repair (MMR) deficiency is classically associated with microsatellite instability, a high tumor mutational burden (TMB), and sensitivity to immune checkpoint blockade in cancer. In this issue of the JCI, Puigdelloses Vallcorba et al.
Andrew Li, Thomas K. Sears, Craig M. Horbinski   +2 more
doaj   +2 more sources