Results 31 to 40 of about 19,899 (215)

Case report: Oligodendroglioma, IDH-mutant and 1p/19q-codeleted, associated with a germline mutation in PMS2

Frontiers in Oncology, 2022
Most tumors, including brain tumors, are sporadic. However, a small subset of CNS tumors are associated with hereditary cancer conditions like Lynch Syndrome (LS).
Mythili Merchant, Margarita Raygada, Ying Pang, Martha Quezado, Mark Raffeld, Liqiang Xi, Jung Kim, Manoj Tyagi, Zied Abdullaev, Olga Kim, Zach Sergi, Tina Pillai, Byram Ozer, Kareem Zaghloul, John D. Heiss, Terri S. Armstrong, Mark R. Gilbert, Kenneth Aldape, Jing Wu   +18 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

Loss of MSH6 and PMS2 immunohistochemical staining in tumour tissue of two individuals with a germline PMS2 mutation [PDF]

Hereditary Cancer in Clinical Practice, 2012
Lynch syndrome is an autosomal dominant cancer predisposition syndrome which is caused by a germline mutation in one of four genes, MLH1, MSH2, MSH6 or PMS2. Individuals with a germline mutation in one of these genes are at increased lifetime risk of colon, endometrial, ovarian, small intestine, renal pelvis and ureter.
Edwards E, Bowman M, Walsh M, Kirk J
doaj   +2 more sources

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

The coding microsatellite mutation profile of PMS2-deficient colorectal cancer [PDF]

, 2021
Lynch syndrome (LS) is caused by a pathogenic heterozygous germline variant in one of the DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6 or PMS2. LS-associated colorectal carcinomas (CRCs) are characterized by MMR deficiency and by accumulation of ...
Ahadova, Aysel, Kloor, M., Benner, A., Doeberitz, M.V., Miranda, N.F. de, Bajwa-ten Broeke, S.W., Benner, Axel, Seidler, Florian, Ahadova, A., Suerink, M., Nielsen, Maartje, Bohaumilitzky, L., Wezel, T. van, Suerink, Manon, Ballhausen, Alexej, Bohaumilitzky, Lena, van Wezel, Tom, Bajwa - ten Broeke, Sanne W., Morreau, Hans, Krzykalla, J., von Knebel Doeberitz, Magnus, Morreau, H., Seidler, F., Ballhausen, A., Nielsen, M., Krzykalla, Julia, de Miranda, Noel F., Kloor, Matthias   +27 more
core   +2 more sources

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

PMS2 expression decrease causes severe problems in mismatch repair [PDF]

, 2019
PMS2 is one of the four susceptibility genes in Lynch syndrome (LS), the most common cancer syndrome in the world. Inherited mutations in DNA mismatch repair (MMR) genes, MLH1, MSH2, and MSH6, account for approximately 90% of LS, while a relatively small
Nyström, Minna, Kasela, Mariann, Kansikas, Minttu   +2 more
core   +1 more source

Clinical characteristics of patients with PMS2 mutations

, 2022
Background: Lynch syndrome is a hereditary cancer predisposition syndrome caused by mutations in mismatch repair genes, MLH1, MSH2, MSH6, and PMS2. The cancer risks and clinical presentation of PMS2 associated Lynch syndrome is not well defined.
Pandey, Samiksha, Zakalik, Dana, Rangarajan, Tara   +2 more
core   +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

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