Results 21 to 30 of about 16,168 (189)

Stabilization of mismatch repair gene PMS2 by glycogen synthase kinase 3β is implicated in the treatment of cervical carcinoma

BMC Cancer, 2010
Background PMS2 expression loss was reported in a variety of human. However, its importance has not been fully understood in cervical carcinoma. The aim of this study was to determine the expression of PMS2 in cervical carcinoma and evaluate the ...
Wang Ze, Da Bang, Wang Shu, Shu Yi, Zhang Yuan, Li Hua   +5 more
doaj   +1 more source

Beyond germline genetic testing - heterozygous pathogenic variants in PMS2 in two children with Osteosarcoma and Ependymoma

Hereditary Cancer in Clinical Practice, 2023
Background Lynch syndrome (LS) is not considered part of childhood cancer predisposition syndromes. Case presentation Analysis of a pediatric osteosarcoma (OS) displayed hypermutation (16.8), alternative lengthening of telomeres (ALT), loss of PMS2 ...
Michaela Kuhlen, Mariola Monika Golas, Tina Schaller, Nicole Stadler, Felicitas Maier, Olaf Witt, Michael C. Frühwald   +6 more
doaj   +1 more source

Novel roles for MLH3 deficiency and TLE6-like amplification in DNA mismatch repair-deficient gastrointestinal tumorigenesis and progression. [PDF]

PLoS Genetics, 2008
DNA mismatch repair suppresses gastrointestinal tumorgenesis. Four mammalian E. coli MutL homologues heterodimerize to form three distinct complexes: MLH1/PMS2, MLH1/MLH3, and MLH1/PMS1.
Peng-Chieh Chen, Mari Kuraguchi, John Velasquez, Yuxun Wang, Kan Yang, Robert Edwards, Dan Gillen, Winfried Edelmann, Raju Kucherlapati, Steven M Lipkin   +9 more
doaj   +1 more source

Simultaneous Analysis of MLH1, MSH2, MSH6, PMS2 and KRAS in Patients with Gastric and Colon Cancer Using Stochastic Sensors

Chemosensors, 2022
Two stochastic sensors were characterized and validated for the molecular identification and quantification of MLH1, MSH2, MSH6, PMS2 and KRAS in biological samples using two types of doped-graphene modified with maltodextrin.
Damaris-Cristina Gheorghe, Raluca-Ioana Stefan-van Staden, Florina Pogacean, Stela Pruneanu   +3 more
doaj   +1 more source

Two-Antibody Staining Method, A Cost-Saving Strategy for Universal Lynch Syndrome Screening in Endometrial Cancers

Siriraj Medical Journal, 2022
Objective: Lynch syndrome is an autosomal dominant disorder that increases the risk of cancers in many sites. In women, endometrial cancer is often a sentinel tumor and thus immunohistochemistry for mismatch repair (MMR) proteins MLH1, MSH2, MSH6 and ...
Natthakrit Anansitthikorn, Suchanan Hanamornroongruang   +1 more
doaj   +1 more source

Detecting clinically actionable variants in the 3′ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene

BMC Medical Genetics, 2018
Background Hereditary cancer screening (HCS) for germline variants in the 3′ exons of PMS2, a mismatch repair gene implicated in Lynch syndrome, is technically challenging due to homology with its pseudogene PMS2CL.
Genevieve M Gould, Peter V Grauman, Mark R Theilmann, Lindsay Spurka, Irving E Wang, Laura M Melroy, Robert G Chin, Dustin H Hite, Clement S Chu, Jared R Maguire, Gregory J Hogan, Dale Muzzey   +11 more
doaj   +1 more source

Cancer Risks for PMS2-Associated Lynch Syndrome [PDF]

Journal of Clinical Oncology, 2018
Purpose Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial cancer, although extracolonic cancers have been described within the Lynch tumor spectrum. However, the age-specific cumulative risk (penetrance) of these cancers is still poorly defined for
Sanne W. ten Broeke, Heleen M. van der Klift, Carli M.J. Tops, Stefan Aretz, Inge Bernstein, Daniel D. Buchanan, Albert de la Chapelle, Gabriel Capella, Mark Clendenning, Christoph Engel, Steven Gallinger, Encarna Gomez Garcia, Jane C. Figueiredo, Robert Haile, Heather L. Hampel, Liselotte van Hest, John L. Hopper, Nicoline Hoogerbrugge, Magnus von Knebel Doeberitz, Loic Le Marchand, Tom G.W. Letteboer, Mark A. Jenkins, Annika Lindblom, Noralane M. Lindor, Arjen R. Mensenkamp, Pål Møller, Polly A. Newcomb, Theo A.M. van Os, Rachel Pearlman, Marta Pineda, Nils Rahner, Egbert J.W. Redeker, Maran J.W. Olderode-Berends, Christophe Rosty, Hans K. Schackert, Rodney Scott, Leigha Senter, Liesbeth Spruijt, Verena Steinke-Lange, Manon Suerink, Stephen Thibodeau, Yvonne J. Vos, Anja Wagner, Ingrid Winship, Frederik J. Hes, Hans F.A. Vasen, Juul T. Wijnen, Maartje Nielsen, Aung Ko Win   +48 more
openaire   +9 more sources

PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colorectal Cancer with Polyps

Global Medical Genetics, 2023
Background Lynch syndrome (LS) is an autosomal dominant condition due to the germline mutation in the mismatch repair (MMR) genes including MLH1, MSH2, MSH6, and PMS2 (post-meiotic segregation increased 2).
Henriette Poaty, Lauria Batamba Bouya, Aimé Lumaka, Arnaud Mongo-Onkouo, Deby Gassaye   +4 more
doaj   +1 more source

MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer

Hereditary Cancer in Clinical Practice, 2010
Background Approximately 10% of Lynch syndrome families have a mutation in MSH6 and fewer families have a mutation in PMS2. It is assumed that the cancer incidence is the same in families with mutations in MSH6 as in families with mutations in MLH1/MSH2 ...
Talseth-Palmer Bente A, McPhillips Mary, Groombridge Claire, Spigelman Allan, Scott Rodney J   +4 more
doaj   +1 more source

Diabetes mellitus impacts on expression of DNA mismatch repair protein PMS2 and tumor microenvironment in pancreatic ductal adenocarcinoma

Journal of Diabetes Investigation, 2023
Aims/Introduction The mismatch repair (MMR) protein recognizes DNA replication errors and plays an important role in tumorigenesis, including pancreatic ductal adenocarcinoma (PDAC).
Xuekai Pan, Hiroki Mizukami, Yutaro Hara, Takahiro Yamada, Keisuke Yamazaki, Kazuhiro Kudoh, Yuki Takeuchi, Takanori Sasaki, Hanae Kushibiki, Akiko Igawa, Kenichi Hakamada   +10 more
doaj   +1 more source