Results 71 to 80 of about 2,530,443 (206)

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   +1 more source

Colorectal Carcinoma in a Young Male Diagnosed as Lynch Syndrome with a Rare PMS2 Pathogenic Germline Variant: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Colorectal cancers in young people can be due to inherited mutations in 5-10% of cases, among which Lynch syndrome is the most common. Lynch syndrome is defined as a genetic susceptibility to various types of cancer, with non polyposis colorectal cancer ...
Vijayashree S Gokhale, Vineetha Naga Lakshmi Giduturi, Mahabir Prasad Mishra, Mayur Ambekar, Dnyanada Shrirang Gokhale-Agashe   +4 more
doaj   +1 more source

DNA-Peptide Crosslinks Placed at Codon 249 of the p53 Tumor Suppressor Gene Induce G to A Transitions in Human Cells. [PDF]

Chembiochem
DNA‐peptide cross‐links (DpCs) are ubiquitous DNA lesions that form when cellular proteins become covalently trapped on DNA strands and are processed by proteases. DpCs are hypothesized to play a role in antitumor activity of chemotherapeutic drugs and to contribute to aging.
Yawson P, Bacurio JHT, Kumar HV, Tretyakova NY, Basu AK.   +4 more
europepmc   +2 more sources

Elevated levels of mutation in multiple tissues of mice deficient in the DNA mismatch repair gene  Pms2 [PDF]

Proceedings of the National Academy of Sciences, 1997
The Pms2 gene has been implicated in hereditary colon cancer and is one of several mammalian homologs of the Escherichia coli mutL DNA mismatch repair gene.
L, Narayanan, J A, Fritzell, S M, Baker, R M, Liskay, P M, Glazer   +4 more
openaire   +2 more sources

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1‐Related Disease

Movement Disorders, EarlyView.
Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Xuemin Wang, Liam G. Fearnley, Kayli C. Davies, Penny Snell, Stuart Lee, Victoria E. Jackson, Justin Read, Michael Milton, Ian H. Harding, Martin B. Delatycki, David J. Szmulewicz, Paul J. Lockhart, Melanie Bahlo, Haloom Rafehi   +13 more
wiley   +1 more source

PMS2 monoallelic mutation carriers: The known unknown

, 2016
Germ-line mutations in MLH1, MSH2, MSH6, and PMS2 have been shown to cause Lynch syndrome. The penetrance of the cancer and tumor spectrum has been repeatedly studied, and multiple professional societies have proposed clinical management guidelines for ...
Weitzel, JN, Plon, SE, Aronson, M, Le Marchand, L, Lu, KH, Burnett, T, Thibodeau, S, Lynch, P, Win, AK, Pichurin, P, Boland, CR, Clendenning, M, Syngal, S, De La Chapelle, A, Thomas, BC, Lipkin, SM, Riegert-Johnson, D, Hampel, H, Lynch, HT, Terdiman, JP, Parry, S, Senter, L, Jenkins, MA, Goodenberger, ML, Holter, S, Stadler, ZK, Gallinger, S, Lindor, NM, Macrae, FA, Newcomb, PA   +29 more
core   +1 more source

Predictive functional assay‐based classification of PMS2 variants in Lynch syndrome [PDF]

, 2022
The large majority of germline alterations identified in the DNA mismatch repair (MMR) gene PMS2, a low‐penetrance gene for the cancer predisposition Lynch syndrome, represent variants of uncertain significance (VUS).
Fortuno, Cristina, van Hees‐Stuivenberg, Sandrine, Spurdle, A.B., Spurdle, Amanda B., Tiersma, Y., Wind, N. de, Rayner, Emily, Hees-Stuivenberg, S. van, Rayner, E., Fortuno, C., Drost, Mark; id_orcid, Tiersma, Yvonne, Drost, M., Drost, Mark, van Hees-Stuivenberg, Sandrine, Thompson, Bryony, de Wind, Niels, Thompson, B.   +17 more
core   +1 more source

Dedifferentiation in endometrial cancer is associated with HLA‐I silencing that may be restored by IFN‐γ

The Journal of Pathology, EarlyView.
Abstract Dedifferentiated endometrial carcinoma occurs when a prognostically favorable low‐grade endometrial carcinoma transforms into a highly aggressive undifferentiated carcinoma following genomic inactivation of core SWItch/Sucrose Non‐Fermentable (SWI/SNF) complex protein(s).
Antonio De Leo, Madison Wickenberg, Marco Grillini, Camelia Alexandra Coadǎ, Pooja Praveen Kumar, Annie Tong, James Key, Hannah Kim, Felix Kommoss, Mark Carey, Yangxin Fu, Claudio Ceccarelli, Giovanni Tallini, Paul LaPointe, Martin Köbel, Cheng‐Han Lee   +15 more
wiley   +1 more source

Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data [PDF]

Bioinformatics; Open-Source; Genetic TestingBioinformática; Código abierto; Pruebas genéticasBioinformàtica; Codi obert; Proves genètiquesThe molecular diagnosis of mismatch repair–deficient cancer syndromes is hampered by difficulties in sequencing the ...
Feliubadaló, Lidia, Balmaña, Judith, González, Sara, del Valle, Jesús, Ramos-Muntada, Mireia, Munté, Elisabet   +5 more
core   +3 more sources

Clinicopathological Characteristics of Colorectal Cancer Patients with Different Mismatch Repair Statuses and Their Correlation with KRAS/NRAS/BRAF Gene Mutations

Zhongliu Fangzhi Yanjiu
ObjectiveTo investigate the clinicopathological characteristics of colorectal cancer patients with different mismatch repair (MMR) statuses and their correlation with KRAS/NRAF/BRAF (KNB) gene mutations.
Jinchuan YU, Xuexue XIAO, Weiying HE, Yanan YANG, Junqiu YUE   +4 more
doaj   +1 more source