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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   +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   +3 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   +4 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   +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

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

The THE FREQUENCY OF MISMATCH REPAIR DEFICIENCY IN COLORECTAL CARCINOMA DETERMINED BY IMMUNOHISTOCHEMISTRY

Pakistan Armed Forces Medical Journal, 2021
Objective: To determine the frequency of mismatch repair deficiency in colorectal carcinoma determined by immunohistochemistry. Study Design: Cross-sectional study.
Maria Naseem, Muhammad Asif, Hafeez Ud Din, Muhammad Tahir Khadim, Ahmed Ahson Khan, Shahid Jamal, Iman Shoaib   +6 more
doaj   +1 more source

Expression of PD-L1 in Microsatellite Instability High Tumours: A Retrospective Study [PDF]

Journal of Clinical and Diagnostic Research, 2023
Introduction: Microsatellite Instability (MSI) is the hallmark of Lynch syndrome/Constitutional Mismatch Repair Deficiency (CMMRD) and is also found in many sporadic cancers like colorectal cancer, endometrial, gastric, small intestine, urothelial ...
Dinisha Einstien, Gayathri Devi Thanigaimani, KS Mouleeswaran, A Prathiba, G Sarumathy, John Vergilin   +5 more
doaj   +1 more source

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   +1 more source

An Exceptional Response to Dostarlimab in Mismatch Repair Deficient, Microsatellite Instability-High and Platinum Refractory Endometrial Cancer

Current Oncology, 2022
Until recently, effective therapies for advanced endometrial cancer progressing to a platinum-based combination were lacking. In this setting, immunotherapy with anti PD-1/PDL-1 monoclonal antibodies is rising as a new paradigm in particular for patients
Michele Bartoletti, Giorgio Giorda, Alessandra Viel, Mara Fornasarig, Adrian Zdjelar, Enrica Segatto, Roberto Sorio, Serena Corsetti, Simona Scalone, Milena Sabrina Nicoloso, Tania Pivetta, Emilio Lucia, Nicolò Clemente, Elisa Palazzari, Vincenzo Canzonieri, Fabio Puglisi   +15 more
doaj   +1 more source