Results 11 to 20 of about 29,309 (251)

This is not Lynch syndrome: lessons from misattributed diagnoses in constitutional mismatch repair deficiency [PDF]

ESMO Gastrointestinal Oncology
Background: Underdiagnosis of constitutional mismatch repair deficiency (CMMRD) syndrome leads to suboptimal cancer surveillance and management of CMMRD patients.
A.H. Mohammad, E. Rohr, A. Moise, R.M. Abdulsalam, W. Davalan, A. Rizzolo, A.S. Liberman, C. Goudie, L. Palma, W.D. Foulkes   +9 more
doaj   +2 more sources

Somatic CpG hypermutation is associated with mismatch repair deficiency in cancer [PDF]

Molecular Systems Biology
Somatic hypermutation in cancer has gained momentum with the increased use of tumour mutation burden as a biomarker for immune checkpoint inhibitors.
Aidan Flynn, Sebastian M Waszak, Joachim Weischenfeldt   +2 more
doaj   +2 more sources

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

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

Characteristics of mismatch repair deficiency in sarcomas [PDF]

Modern Pathology, 2019
Due to the efficacy of immune checkpoint inhibitor therapy in tumors with deficient mismatch repair, there has been a surge in demand for mismatch repair deficiency testing in various tumor types. Mismatch repair deficiency is not known to play a significant role in the pathogenesis of sarcomas, and the utility of testing these tumor types is not ...
Leona A. Doyle, Jonathan A. Nowak, Michael J. Nathenson, Katherine Thornton, Andrew J. Wagner, Jason M. Johnson, Adem Albrayak, Suzanne George, Lynette M. Sholl   +8 more
openaire   +2 more sources

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

Assessment of mismatch repair deficiency in ovarian cancer [PDF]

Journal of Medical Genetics, 2020
Background Hereditary causes of ovarian cancer include Lynch syndrome, which is due to inherited pathogenic variants affecting one of the four mismatch repair genes involved in DNA repair. The aim of this study was to evaluate tumour mismatch repair deficiency and prevalence of Lynch syndrome in high-risk women ...
Emma J Crosbie, Neil A J Ryan, Rhona J McVey, Fiona Lalloo, Naomi Bowers, Kate Green, Emma R Woodward, Tara Clancy, James Bolton, Andrew J Wallace, Raymond F McMahon, D Gareth Evans   +11 more
openaire   +6 more sources

Immune Checkpoint Inhibitors in Tumors Harboring Homologous Recombination Deficiency: Challenges in Attaining Efficacy

Frontiers in Immunology, 2022
Cancer cells harbor genomic instability due to accumulated DNA damage, one of the cancer hallmarks. At least five major DNA Damage Repair (DDR) pathways are recognized to repair DNA damages during different stages of the cell cycle, comprehending base ...
Saulo Brito Silva, Carlos Wagner S. Wanderley, Leandro Machado Colli   +2 more
doaj   +1 more source

Intensive surveillance endoscopy for multiple gastrointestinal tumors in a patient with constitutional mismatch repair deficiency: case report

BMC Gastroenterology, 2021
Background Constitutional mismatch repair deficiency (CMMRD) is an extremely rare autosomal recessive hereditary disease characterized by the absence of mismatch repair gene activity from birth, which results in brain tumors, colonic polyposis ...
Takayuki Ando, Takahiko Nakajima, Rei Fukuda, Keiko Nomura, Yo Niida, Miho Sakumura, Iori Motoo, Hiroshi Mihara, Sohachi Nanjo, Shinya Kajiura, Haruka Fujinami, Shojo Hojo, Tsutomu Fujii, Ichiro Yasuda   +13 more
doaj   +1 more source

Constitutional mismatch repair deficiency and childhood leukemia/lymphoma – report on a novel biallelic MSH6 mutation

Haematologica, 2010
Biallelic mutations of mismatch repair genes cause constitutional mismatch repair deficiency associated with an increased risk for childhood leukemia/lymphoma.
Tim Ripperger, Carmela Beger, Nils Rahner, Karl W. Sykora, Clemens L. Bockmeyer, Ulrich Lehmann, Hans H. Kreipe, Brigitte Schlegelberger   +7 more
doaj   +1 more source