Results 81 to 90 of about 19,899 (215)

Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.

PLoS ONE, 2015
Lynch syndrome (LS) accounts for 3-5% of all colorectal cancers (CRC) and is inherited in an autosomal dominant fashion. This syndrome is characterized by early CRC onset, high incidence of tumors in the ascending colon, excess of synchronous ...
Felipe Carneiro da Silva, José Roberto de Oliveira Ferreira, Giovana Tardin Torrezan, Márcia Cristina Pena Figueiredo, Érika Maria Monteiro Santos, Wilson Toshihiko Nakagawa, Rafael Canfield Brianese, Ligia Petrolini de Oliveira, Maria Dirlei Begnani, Samuel Aguiar-Junior, Benedito Mauro Rossi, Fábio de Oliveira Ferreira, Dirce Maria Carraro   +12 more
doaj   +1 more source

Molecular profiling of pediatric medulloblastoma in Kazakhstan: Genomic alterations, subgroup distribution, and survival

Brain Pathology, EarlyView.
A practical formalin‐fixed, paraffin‐embedded (FFPE)‐based molecular workflow integrating pathology, immunohistochemistry, and genomic profiling provides clinically meaningful subgroup classification of pediatric medulloblastoma and expands molecular evidence from an underrepresented Central Asian population. Abstract Medulloblastoma is the most common
Aidos Bolatov, Askhat Zhakupov, Aizhan Abdikadirova, Malika Sapargaliyeva, Bakytkali Ibraimov, Zhanat Zhalimbetova, Gabit Ólenbay, Berik Zhetpisbayev, Xingzhi Xu, Mirgul Bayanova   +9 more
wiley   +1 more source

Phosphorylation-dependent signaling controls degradation of DNA mismatch repair protein PMS2 [PDF]

, 2017
MutLα, a heterodimer consisting of MLH1 and PMS2, plays an important role in DNA mismatch repair and has been shown to be additionally involved in several other important cellular mechanisms. Previous work indicated that AKT could modulate PMS2 stability
Stefan Zeuzem, Sandra Passmann, Plotz, Guido, Hinrichsen, Inga, Meik Huhn, Guido Plotz, Biondi, Ricardo Miguel, Huhn, Meik, Passmann, Sandra, Angela Brieger, Weßbecher, Isabel M., Ricardo M. Biondi, Brieger, Angela, Inga Hinrichsen, Isabel M. Weßbecher, Zeuzem, Stefan   +15 more
core   +1 more source

PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance

, 2010
The DNA mismatch repair protein PMS2 was recently found to encode a novel endonuclease activity. To determine the biological functions of this activity in mammals, we generated endonuclease-deficient Pms2
Scharff, Matthew D, Sergio Roa, Roa, Sergio, Matthew D. Scharff, Hou, Harry, Paul Modrich, Liu, Yiyong, Modrich, Paul, Rani S. Sellers, van Oers, Johanna M. M, Uwe Werling, Harry Hou, Edelmann, Winfried, Jochen Genschel, Johanna M. M. van Oers, Werling, Uwe, Genschel, Jochen, Yiyong Liu, Winfried Edelmann, Sellers, Rani S   +19 more
core   +1 more source

Next generation sequencing to decipher concurrent loss of PMS2 and MSH6 in colorectal cancer

Diagnostic Pathology, 2020
Background Immunohistochemistry (IHQ) is commonly used for the detection of mismatch repair proteins deficiency (MMRD). One very infrequent abnormal pattern of MMR protein expression is the loss of PMS2 and MSH6, with intact expression of MLH1 and MSH2 ...
Esther Moreno, Juan M. Rosa-Rosa, Tamara Caniego-Casas, Ignacio Ruz-Caracuel, Cristian Perna, Carmen Guillén, José Palacios   +6 more
doaj   +1 more source

Gliomas with pleomorphic and pseudopapillary features (GPAP) are circumscribed tumors with targetable mutations, prolonged survival, and frequent tumor predisposition

Brain Pathology, EarlyView.
DNA methylation profiling identifies GPAP as a distinct circumscribed glioma with a characteristic expansive, multicystic radiological appearance, pleomorphic and pseudopapillary histology, a recognizable CNV profile, druggable molecular alterations, and recurrent cancer predisposition syndromes.
Alberto Picca, Valeria Barresi, Aude Trinquet, Luca Bertero, Lucia Nichelli, Guillaume Chotard, Michèle Bernier, Thomas Gareau, Salah Eddine Oussama Kacimi, Jaydutt Bhalshankar, Mathilde Filser, Julien Masliah‐Planchon, Marta Iollo, Henri Malaize, Bertrand Mathon, Luc Bauchet, Kifah Khouri, Besma Barka, Hélène Madry, Sabrina Rossi, Evelina Miele, Giuseppe Kenneth Ricciardi, Catherine Carpentier, Irina Coin, Marc Sanson, Mehdi Touat, Caroline Dehais, Alessia Pellerino, Roberta Rudà, Paola Cassoni, Valérie Rigau, Emmanuelle Uro‐Coste, Karima Mokhtari, Ahmed Idbaih, Patrick R. Benusiglio, Franck Bielle   +35 more
wiley   +1 more source

The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer. [PDF]

, 2006
dentification and characterization of the genetic background in patients with the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome is important since control programmes can in a cost-effective manner prevent cancer development in high-risk ...
Halvarsson, Britta, Lagerstedt, Kristina, Nilbert, Mef, Lindblom, Annika, Rambech, Eva   +4 more
core   +2 more sources

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

Cytology‐First Diagnostic Workflow for Melanoma of Unknown Primary With Molecular Profiling

Cytopathology, EarlyView.
Cytology‑first diagnostic workflow for melanoma of unknown primary. Fine‑needle aspiration of an enlarged lymph node enables rapid cytologic evaluation and immunocytochemical confirmation of melanocytic lineage (SOX10). This early cytologic diagnosis facilitates timely surgical excision and comprehensive genomic profiling, supporting integrated ...
Hong Yu, Mokhtar Abdelhammed, Xu Cao, Nisha S. Ramani   +3 more
wiley   +1 more source

Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk

Journal of Clinical Oncology, 2015
Purpose The clinical consequences of PMS2 germline mutations are poorly understood compared with other Lynch-associated mismatch repair gene (MMR) mutations. The aim of this European cohort study was to define the cancer risk faced by PMS2 mutation carriers.
Broeke, S.W. ten, Brohet, R.M., Tops, C.M., Klift, H.M. van der, Velthuizen, M.E., Bernstein, I., Munar, G.C., Garcia, E.G., Hoogerbrugge, N., Letteboer, T.G.W., Menko, F.H., Lindblom, A., Mensenkamp, A.R., Moller, P., Os, T.A. van, Rahner, N., Redeker, B.J.W., Sijmons, R.H., Spruijt, L., Suerink, M., Vos, Y.J., Wagner, A., Hes, F.J., Vasen, H.F., Nielsen, M., Wijnen, J.T.   +25 more
openaire   +10 more sources