Results 61 to 70 of about 16,168 (189)

A comparative analysis of MMR immunohistochemistry panels: Evaluating the utility of four-protein versus two-protein panels in endometrial cancer patients

Journal of the Formosan Medical Association
Aims: This study aimed to assess the accuracy of a two-protein panel for mismatch repair (MMR) immunohistochemistry (IHC) compared to a four-protein panel in a cohort of endometrial cancer patients.
Yu-Sheng Huang, Yu-Che Ou, Chen-Hsuan Wu, Jui Lan, Chao-Cheng Huang, Hung-Chun Fu, Szu-Wei Huang, Szu-Yu Huang, Shao-Chi Wang, Hao Lin   +9 more
doaj   +1 more source

Integrated high‐resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34‐mutant reveals universal TP53 abnormalities

Brain Pathology, EarlyView.
This integrated high‐resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34‐mutant expands the spectrum of associated genetic changes and underscores the presence of universal TP53 abnormalities at copy number, sequence, and protein expression level, with frequent yet largely unrecognized TP53 copy‐neutral loss of ...
Jorge A. Trejo‐Lopez, Cinthya Zepeda Mendoza, Thomas M. Kollmeyer, Kristen L. Drucker, Vanessa M. Pazdernik, Paul A. Decker, Corinne E. Praska, Jayson Hardcastle, Stephanie Smoley, Matthew Isaacson, Mallika Gandham, Surendra Dasari, Aditya Raghunathan, Caterina Giannini, Gang Zheng, Aaron Wagner, M. Beatriz Lopes, Kar‐Ming A. Fung, JoElle G. Peterson, Andreana L. Rivera, Christopher Rossi, Meggen A. Walsh, Zied Abdullaev, Kenneth Aldape, Martha Quezado, Drew Pratt, Patrick Joseph Cimino, Robert B. Jenkins, Cristiane M. Ida   +28 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

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

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

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

Characterization of the Interactome of the Human MutL Homologues MLH1, PMS1, and PMS2 [PDF]

Journal of Biological Chemistry, 2007
Postreplicative mismatch repair (MMR) involves the concerted action of at least 20 polypeptides. Although the minimal human MMR system has recently been reconstituted in vitro, genetic evidence from different eukaryotic organisms suggests that some steps of the MMR process may be carried out by more than one protein. Moreover, MMR proteins are involved
Cannavo E, Gerrits B, Marra G, Schlapbach R, Jiricny J   +4 more
openaire   +3 more sources

Do aphid endosymbiotic bacteria influence parasitoid searching behaviour through changes in aphid honeydew production?

Ecological Entomology, EarlyView.
Hamiltonella defensa infection increases honeydew production in certain aphid genotypes, potentially modifying aphid feeding behaviour. Parasitoid wasps, Aphidius ervi, are more attracted to honeydew from H. defensa‐infected aphids; though larger honeydew amounts may slightly deter searching.
Desiré Macheda, Alexandre Foito, Katharine F. Preedy, Colin J. Alexander, Ankush Prashar, Alison J. Karley   +5 more
wiley   +1 more source

Incidental Colorectal Adenomas in Adolescents: Clinical Management, Genetic Evaluation, and Surveillance

Journal of Gastroenterology and Hepatology, EarlyView.
Adolescents with incidental colorectal adenomas require age‐conscious management balancing referral for genetic counseling with evidence‐based surveillance. This narrative review proposes a pragmatic clinical algorithm integrating adenoma characteristics, hereditary risk assessment, and guideline‐concordant follow‐up to support individualized ...
Brett J. Hoskins, Shlomi Cohen, Colleen B. Flahive, Isabel Rojas, Aparajita Singh, Thomas M. Attard   +5 more
wiley   +1 more source

PMS2 expression decrease causes severe problems in mismatch repair [PDF]

Human Mutation, 2019
PMS2 is one of the four susceptibility genes in Lynch syndrome (LS), the most common cancer syndrome in the world. Inherited mutations in DNA mismatch repair (MMR) genes, MLH1, MSH2, and MSH6, account for approximately 90% of LS, while a relatively small number of LS families segregate a PMS2 mutation.
Mariann Kasela, Minna Nyström, Minttu Kansikas   +2 more
openaire   +3 more sources