Results 11 to 20 of about 19,899 (215)

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   +4 more sources

Cancer Risks for PMS2-Associated Lynch Syndrome [PDF]

Journal of Clinical Oncology, 2018
Purpose Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial cancer, although extracolonic cancers have been described within the Lynch tumor spectrum. However, the age-specific cumulative risk (penetrance) of these cancers is still poorly defined for
Sanne W. ten Broeke, Heleen M. van der Klift, Carli M.J. Tops, Stefan Aretz, Inge Bernstein, Daniel D. Buchanan, Albert de la Chapelle, Gabriel Capella, Mark Clendenning, Christoph Engel, Steven Gallinger, Encarna Gomez Garcia, Jane C. Figueiredo, Robert Haile, Heather L. Hampel, Liselotte van Hest, John L. Hopper, Nicoline Hoogerbrugge, Magnus von Knebel Doeberitz, Loic Le Marchand, Tom G.W. Letteboer, Mark A. Jenkins, Annika Lindblom, Noralane M. Lindor, Arjen R. Mensenkamp, Pål Møller, Polly A. Newcomb, Theo A.M. van Os, Rachel Pearlman, Marta Pineda, Nils Rahner, Egbert J.W. Redeker, Maran J.W. Olderode-Berends, Christophe Rosty, Hans K. Schackert, Rodney Scott, Leigha Senter, Liesbeth Spruijt, Verena Steinke-Lange, Manon Suerink, Stephen Thibodeau, Yvonne J. Vos, Anja Wagner, Ingrid Winship, Frederik J. Hes, Hans F.A. Vasen, Juul T. Wijnen, Maartje Nielsen, Aung Ko Win   +48 more
core   +16 more sources

Improved multiplex ligation‐dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL [PDF]

Genes, Chromosomes and Cancer, 2012
AbstractHeterozygous PMS2 germline mutations are associated with Lynch syndrome. Up to one third of these mutations are genomic deletions. Their detection is complicated by a pseudogene (PMS2CL), which – owing to extensive interparalog sequence exchange – closely resembles PMS2 downstream of exon 12.
Wernstedt, Annekatrin, Valtorta, Emanuele, Armelao, Franco, Togni, Roberto, Girlando, Salvatore, Baudis, Michael, Heinimann, Karl, Messiaen, Ludwine, Staehli, Noemie, Zschocke, Johannes, Marra, Giancarlo, Wimmer, Katharina   +11 more
openaire   +6 more sources

PMS2 involvement in patients suspected of Lynch syndrome

Genes, Chromosomes and Cancer, 2009
AbstractIt is well‐established that germline mutations in the mismatch repair genes MLH1, MSH2, and MSH6 cause Lynch syndrome. However, mutations in these three genes do not account for all Lynch syndrome (suspected) families. Recently, it was shown that germline mutations in another mismatch repair gene, PMS2, play a far more important role in Lynch ...
Niessen, Renee C., Kleibeuker, Jan H., Westers, Helga, Jager, Paul O. J., Rozeveld, Dennie, Bos, Krista K., Boersma-van Ek, Wytske, Hollema, Harry, Sijmons, Rolf H., Hofstra, Robert M. W.   +9 more
openaire   +4 more sources

Stabilization of mismatch repair gene PMS2 by glycogen synthase kinase 3β is implicated in the treatment of cervical carcinoma [PDF]

BMC Cancer, 2010
Background PMS2 expression loss was reported in a variety of human. However, its importance has not been fully understood in cervical carcinoma. The aim of this study was to determine the expression of PMS2 in cervical carcinoma and evaluate the ...
Wang Ze, Da Bang, Wang Shu, Shu Yi, Zhang Yuan, Li Hua   +5 more
doaj   +3 more sources

Genotype-phenotype correlations in PMS2-associated constitutional mismatch repair deficiency: a systematic literature review [PDF]

Oncology Reviews
Constitutional mismatch repair deficiency (CMMRD) is a rare pediatric cancer predisposition syndrome primarily characterised by central nervous system (CNS), gastro-intestinal (GI) tumours and hematological malignancies, along with NF1-like cutaneous ...
Cătălin Vasile Munteanu, Cătălin Vasile Munteanu, Diana Luisa Lighezan, Diana Luisa Lighezan, Alexandru Capcelea, Alexandru Capcelea, Adela Chiriță-Emandi, Adela Chiriță-Emandi, Adela Chiriță-Emandi, Adrian Pavel Trifa, Adrian Pavel Trifa, Adrian Pavel Trifa   +11 more
doaj   +2 more sources

Germline mutations inPMS2andMLH1in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort [PDF]

BMJ Open, 2016
ObjectivesImmunohistochemistry for DNA mismatch repair proteins is used to screen for Lynch syndrome in individuals with colorectal carcinoma (CRC). Although solitary loss of PMS2 expression is indicative of carrying a germline mutation inPMS2, previous studies reportedMLH1mutation in some cases. We determined the prevalence ofMLH1germline mutations in
Christophe Rosty, Mark Clendenning, Michael D Walsh, Stine V Eriksen, Melissa C Southey, Ingrid M Winship, Finlay A Macrae, Alex Boussioutas, Nicola K Poplawski, Susan Parry, Julie Arnold, Joanne P Young, Graham Casey, Robert W Haile, Steven Gallinger, Loïc Le Marchand, Polly A Newcomb, John D Potter, Melissa DeRycke, Noralane M Lindor, Stephen N Thibodeau, John A Baron, Aung Ko Win, John L Hopper, Mark A Jenkins, Daniel D Buchanan   +25 more
core   +9 more sources

Colorectal Carcinomas With Isolated Loss of PMS2 Staining by Immunohistochemistry

Archives of Pathology & Laboratory Medicine, 2018
Context.— Isolated loss of PMS2 staining is an uncommon immunophenotype in colorectal carcinomas, accounting for approximately 4% of tumors with microsatellite instability.
Lindsay, Alpert, Reetesh K, Pai, Amitabh, Srivastava, Wendy, McKinnon, Rebecca, Wilcox, Rhonda K, Yantiss, Ramir, Arcega, Hanlin L, Wang, Marie E, Robert, Xiuli, Liu, Rish K, Pai, Lei, Zhao, Maria, Westerhoff, Heather, Hampel, Sonia, Kupfer, Namrata, Setia, Shu-Yuan, Xiao, John, Hart, Wendy L, Frankel   +18 more
openaire   +3 more sources

Recurrent and founder mutations in the PMS2 gene [PDF]

Clinical Genetics, 2013
Germline mutations in PMS2 are associated with Lynch syndrome (LS), the most common known cause of hereditary colorectal cancer. Mutation detection in PMS2 has been difficult due to the presence of several pseudogenes, but a custom‐designed long‐range PCR strategy now allows adequate mutation detection. Many mutations are unique.
Tomsic, J, Senter, L, Liyanarachchi, S, Clendenning, M, Vaughn, CP, Jenkins, MA, Hopper, JL, Young, J, Samowitz, W, de la Chapelle, A   +9 more
openaire   +4 more sources

Novel variants of unknown significance in the PMS2 gene identified in patients with hereditary colon cancer

Cancer Management and Research, 2019
Raffaella Liccardo,1 Carlo Della Ragione,2 Nunzio Mitilini,2 Marina De Rosa,1 Paola Izzo,1 Francesca Duraturo11Department of Molecular Medicine and Medical Biotechnologies, School of Medicine, University of Naples “Federico II”, Naples, Italy;
Liccardo R, Della Ragione C, Mitilini N, De Rosa M, Izzo P, Duraturo F   +5 more
doaj   +2 more sources