Results 21 to 30 of about 19,899 (215)

PMS2 amplification contributes brain metastasis from lung cancer

Biological Procedures Online
Background Lung adenocarcinoma metastasizing to the brain results in a notable increase in patient mortality. The high incidence and its impact on survival presents a critical unmet need to develop an improved understanding of its mechanisms.
Jianing Chen, Congli Hu, Hainan Yang, Li Wang, Xiangling Chu, Xin Yu, Shiji Zhang, Xuefei Li, Chao Zhao, Lei Cheng, Weiping Hong, Da Liu, Lei Wen, Chunxia Su   +13 more
doaj   +3 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

The Initiation and Progression of Neoplasia in Inherited and Sporadic Colorectal Cancer. [PDF]

, 2009
PhDThis dissertation describes investigations into aspects of neoplastic initiation and progression in the gut, in the context of inherited and sporadic gastrointestinal cancer. In familial adenomatous polyposis, there is marked locoregional variation
Will, Olivia Constance Claire
core   +4 more sources

PMS2 Expression With Combination of PD-L1 and TILs for Predicting Survival of Esophageal Squamous Cell Carcinoma

Frontiers in Oncology, 2022
BackgroundDNA mismatch repair (MMR) deficiency (dMMR) has been recognized as an important biomarker for immunotherapy in esophageal squamous cell carcinoma (ESCC), along with programmed death ligand 1 (PD-L1) expression and/or tumor-infiltrated ...
Dongxian Jiang, Dongxian Jiang, Qi Song, Xiaojun Wei, Zixiang Yu, Yufeng Liu, Haixing Wang, Xingxing Wang, Jie Huang, Jieakesu Su, Yang Hong, Yifan Xu, Chen Xu, Yingyong Hou, Yingyong Hou   +14 more
doaj   +1 more source

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

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

Case Report and Literature Review: Diagnosis, Tailored Genetic Counseling and Cancer Prevention for a Locally Advanced dMMR/MSI-H/TMB-H Lung Cancer Patient With Concurrent Lynch Syndrome Mediated by a Rare PMS2 Splicing Variant (c.1144+1G>A)

Frontiers in Genetics, 2022
Lynch syndrome (LS) is a cancer-predisposing genetic disease mediated by pathogenic mutations in DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2.
Quanli Han, Si Liu, Zhi Cui, Qi Wang, Tonghui Ma, Liwen Jiang, Xiaomo Li, Guanghai Dai   +7 more
doaj   +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

C-terminal fluorescent labeling impairs functionality of DNA mismatch repair proteins [PDF]

, 2012
The human DNA mismatch repair (MMR) process is crucial to maintain the integrity of the genome and requires many different proteins which interact perfectly and coordinated.
Hinrichsen, Inga Malena, Stefan Zeuzem, Hinrichsen Inga, Sandra Passmann, Plotz Guido, Adam, Ronja Sophia Mercedes, Plotz, Guido, Zeuzem Stefan, Guido Plotz, Passmann, Sandra, Angela Brieger, Ronja Adam, Brieger, Angela, Inga Hinrichsen, Brieger Angela, Passmann Sandra, Adam Ronja, Zeuzem, Stefan   +17 more
core   +2 more sources