Results 11 to 20 of about 16,168 (189)

Identification PMS1 and PMS2 as potential meiotic substrates of CDK2 activity.

PLoS ONE, 2023
Cyclin dependent-kinase 2 (CDK2) plays important functions during the mitotic cell cycle and also facilitates several key events during germ cell development.
Nathan Palmer, S Zakiah A Talib, Christine M F Goh, Kajal Biswas, Shyam K Sharan, Philipp Kaldis   +5 more
doaj   +5 more sources

In silico splicing analysis of the PMS2 gene: exploring alternative molecular mechanisms in PMS2-associated Lynch syndrome

BMC Genomic Data
Lynch syndrome (LS) is one of the most common hereditary cancer syndrome in human populations, associated with germline variants in MLH1, MSH2/EPCAM, MSH6 and PMS2 genes.
Cătălin Vasile Munteanu, Cătălin Marian, Adela Chiriță-Emandi, Maria Puiu, Adrian Pavel Trifa   +4 more
doaj   +3 more sources

PMS2 mutations in childhood cancer [PDF]

Gut, 2005
We refer to the recent paper by Durno et al “Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma” ( Gut 2005; 54 :1146–50). Among other patients with early onset colorectal cancer (CRC), the authors discuss a girl with CRC onset at the age of 12 years, and a subsequent second primary tumour ...
D T, Bonthron, B E, Hayward, M, De Vos, E, Sheridan   +3 more
openaire   +2 more sources

PMS2 or PMS2CL? Characterization of variants detected in the 3′ of the PMS2 gene

Genes, Chromosomes and Cancer, 2023
AbstractPMS2 germline pathogenic variants are one of the major causes for Lynch syndrome and constitutional mismatch repair deficiencies. Variant identification in the 3′ region of this gene is complicated by the presence of the pseudogene PMS2CL which shares a high sequence homology with PMS2.
Ahmed Bouras, Cedrick Lefol, Eric Ruano, Chloé Grand‐Masson, Qing Wang   +4 more
openaire   +2 more sources

PMS2 Mutations in Childhood Cancer [PDF]

JNCI: Journal of the National Cancer Institute, 2006
Until recently, the PMS2 DNA mismatch repair gene has only rarely been implicated as a cancer susceptibility locus. New studies have shown, however, that earlier analyses of this gene have had technical limitations and also that the genetic behavior of mutant PMS2 alleles is unusual, in that, unlike MLH1 or MSH2 mutations, PMS2 mutations show low ...
De Vos, Michel, Hayward, Bruce E., Charlton, Ruth, Taylor, Graham R., Glaser, Adam W., Picton, Susan, Cole, Trevor R., Maher, Eamonn R., McKeown, Carol M.E., Mann, Jill R., Yates, John R., Baralle, Diana, Rankin, Julia, Bonthron, David T., Sheridan, Eamonn   +14 more
openaire   +3 more sources

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

MSH6 and PMS2 expression in colorectal carcinoma. [PDF]

Bioinformation
Microsatellite instability (MSI) is a key feature in colorectal carcinomas (CRCs), but its role in diagnosis and prognosis, particularly through immunohistochemical markers like MSH6 and PMS2, remains underexplored. Conducted at Sree Balaji Medical College and Hospital, 50 histologically confirmed CRC samples were analyzed.
M S, S M, Ms J.
europepmc   +3 more sources

European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

BJS (British Journal of Surgery), EarlyView., 2020
Recommendations for clinical and molecular identification of LS, surgical and endoscopic management of LS‐associated colorectal cancer and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum.
T. T. Seppälä, A. Latchford, I. Negoi, A. Sampaio Soares, R. Jimenez‐Rodriguez, L. Sánchez‐Guillén, D. G. Evans, N. Ryan, E. J. Crosbie, M. Dominguez‐Valentin, J. Burn, M. Kloor, M. von Knebel Doeberitz, F. J. B. van Duijnhoven, P. Quirke, J. R. Sampson, P. Møller, G. Möslein, on behalf of the European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)   +18 more
wiley   +1 more source

Potential predictors for CDX2 expression loss and mismatch repair deficiency in colorectal cancer

Pathology and Oncology Research, 2023
CDX2 expression loss is commonly associated with mismatch repair deficiency (dMMR) in colorectal cancer (CRC). However, there are only a few studies that have attempted to correlate CDX2 expression loss with specific MMR genes (MLH1, MSH2, MSH6, PMS2 ...
Ivan Vlahović, Jasmina Rajc, Ivan Švagelj, Krešimir Šolić, Dražen Švagelj   +4 more
doaj   +1 more source

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