Results 41 to 50 of about 21,552 (215)

Signalling cell cycle arrest and cell death through the MMR System [PDF]

, 2006
Loss of DNA mismatch repair (MMR) in mammalian cells, as well as having a causative role in cancer, has been linked to resistance to certain DNA damaging agents including clinically important cytotoxic chemotherapeutics.
Brown, R., O'Brien, V.
core   +1 more source

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. [PDF]

, 2017
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesLynch syndrome, caused by germline mutations in the mismatch repair genes, is ...
Alexiusdottir, Kristin, Arngrimsson, Reynir, Bekaii-Saab, Tanios, de la Chapelle, Albert, Einarsdottir, Sylvia, Frankel, Wendy L, Goldberg, Richard M, Hampel, Heather, Haraldsdottir, Sigurdis, Haraldsson, Stefan, Hitchins, Megan, Jonasson, Jon G, Kehr, Birte, Masson, Gisli, Moller, Pall H, Pritchard, Colin C, Rafnar, Thorunn, Shields, Peter G, Sigurdsson, Asgeir, Sigurdsson, Fridbjorn, Snaebjornsson, Petur, Stefansson, Kari, Stefansson, Tryggvi, Steinarsdottir, Margret, Sulem, Patrick, Weng, Daniel, Yilmaz, Ahmet   +26 more
core   +2 more sources

Using gene expression in patients with endometrial intraepithelial neoplasia to assess the risk of cancer

Gynecologic Oncology Reports, 2018
Patients diagnosed with an endometrial cancer precursor lesion on biopsy may be found to have endometrial cancer at the time of subsequent surgery. The current study seeks to identify patients with endometrial intraepithelial neoplasia (EIN) on biopsy ...
Koah Vierkoetter, Jennifer Wong, Hyeong Jun Ahn, David Shimizu, Laura Kagami, Keith Terada   +5 more
doaj   +1 more source

Does sex of the patient play a role in survival for MSI colorectal cancer? [PDF]

, 2018
Microsatellite instability (MSI) is a feature of colorectal tumors that develops as a result of inactivation of the DNA mismatch repair system. It is found in about 15% of all colorectal cancers and is an important prognostic molecular marker when ...
Alecu, Lucian, Hainarosie, Razvan, Iaciu, Cristian I., Jecan, Radu C., Nitipir, Cornelia, Orlov, Cristina, Pantea Stoian, Anca, Pituru, Silviu, Slavu, Iulian, Stanculeanu, Dana L., Tulin, Adrian, Tulin, Raluca   +11 more
core   +3 more sources

Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene [PDF]

Oncogene, 2000
Turcot's syndrome is a genetic disease characterized by the concurrence of primary brain tumors and colon cancers and/or multiple colorectal adenomas. We report a Turcot family with no parental consanguinity, in which two affected sisters, with no history of tumors in their parents, died of a brain tumor and of a colorectal tumor, respectively, at a ...
M, De Rosa, C, Fasano, L, Panariello, M I, Scarano, G, Belli, A, Iannelli, F, Ciciliano, P, Izzo   +7 more
openaire   +3 more sources

PMS2 germline mutation c.943C>T (p.Arg315*)‐induced Lynch syndrome‐associated ovarian cancer

Molecular Genetics & Genomic Medicine, 2019
Background Lynch syndrome (LS) is an autosomal dominant cancer predisposition condition caused by germline heterozygous mutations in mismatch repair (MMR) genes. However, as one of the MMR genes, PMS2 mutation‐induced LS‐associated ovarian cancer (LSAOC)
Xiaoqing Guo, Weimin Wu, Hao Gao, Xiaofeng Li, Qizhi He, Yong Zhu, Na Liu   +6 more
doaj   +1 more source

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

Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients [PDF]

, 2016
Background and Aims Lynch Syndrome (LS) is caused by pathogenic germline variants in one of the mismatch repair (MMR) genes. However, up to 60% of MMR-deficient colorectal cancer cases are categorized as suspected Lynch Syndrome (sLS) because no ...
Devilee, P. (Peter), Geilenkirchen, M.A. (Marije A.), Gómez García, E.B. (Encarna), Hes, F.J. (Frederik), Jagmohan-Changur, S.C. (Shantie), Jansen, A.M.L. (Anne M. L.), Klift, H.M. (Heleen) van der, Laros, J.F.J. (Jeroen F.), Letteboer, T.G.W. (Tom), Morreau, H. (Hans), Ruano, D. (Dina), Tops, C. (Carli), Van Den Akker, B.E.W.M. (Brendy E. W. M.), Van Galen, M. (Michiel), Vasen, H. (Hans), Wagner, A. (Anja), Wezel, T. (Tom) van, Wijnen, J.T. (Juul)   +17 more
core   +1 more source

Phenotypic and genotypic characterization of single circulating tumor cells in the follow‐up of high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon, Rui P. L. Neves, Nikolas H. Stoecklein, Sven‐Thorsten Liffers, Jens Siveke, Jan D. Kuhlmann, Pauline Wimberger, Paul Buderath, Rainer Kimmig, Sabine Kasimir‐Bauer   +9 more
wiley   +1 more source

CHARACTERISTICS OF INDIVIDUALS UNDERGOING PANEL GENETIC TESTING FOR PRIMARY BRAIN TUMORS [PDF]

, 2018
Background. Currently, there are no genetic testing guidelines for patients with a primary brain tumor (PBT). This population is largely understudied in terms of the family history, tumor grade, pathology, and their relation to genetic contribution.
Azam, Sarah
core   +1 more source