Results 31 to 40 of about 29,501 (185)

Identification of novel germline mutations in hereditary colorectal cancer patients and characterization of somatic alterations in their tumors [PDF]

, 2008
Colorectal cancer has been reported as the third leading cause of cancer related death in the world. About 5-10% of colorectal cancers are due to an inherited predisposition.
Zhang, Jian
core   +1 more source

Association between colorectal cancer, the frequency of Bacteroides fragilis, and the level of mismatch repair genes expression in the biopsy samples of Iranian patients

BMC Gastroenterology
Background Deficient DNA mismatch repair (MMR) can cause microsatellite instability (MSI) and is more common in colorectal cancer (CRC) patients.
Nooshin Nazarinejad, Bahareh Hajikhani, Amir Abbas Vaezi, Farzaneh Firoozeh, Fatemeh Sameni, Somayeh Yaslianifard, Mehdi Goudarzi, Masoud Dadashi   +7 more
doaj   +1 more source

Loss of Msh2 and a single-radiation hit induce common, genome-wide, and persistent epigenetic changes in the intestine

Clinical Epigenetics, 2019
Background Mismatch repair (MMR)-deficiency increases the risk of colorectal tumorigenesis. To determine whether the tumors develop on a normal or disturbed epigenetic background and how radiation affects this, we quantified genome-wide histone H3 ...
Maria Herberg, Susann Siebert, Marianne Quaas, Torsten Thalheim, Karen Rother, Michelle Hussong, Janine Altmüller, Christiane Kerner, Joerg Galle, Michal R. Schweiger, Gabriela Aust   +10 more
doaj   +1 more source

Msh2 acts in medium-spiny striatal neurons as an enhancer of CAG instability and mutant huntingtin phenotypes in Huntington's disease knock-in mice. [PDF]

PLoS ONE, 2012
The CAG trinucleotide repeat mutation in the Huntington's disease gene (HTT) exhibits age-dependent tissue-specific expansion that correlates with disease onset in patients, implicating somatic expansion as a disease modifier and potential therapeutic ...
Marina Kovalenko, Ella Dragileva, Jason St Claire, Tammy Gillis, Jolene R Guide, Jaclyn New, Hualing Dong, Raju Kucherlapati, Melanie H Kucherlapati, Michelle E Ehrlich, Jong-Min Lee, Vanessa C Wheeler   +11 more
doaj   +1 more source

Monitoring pharmacodynamic and molecular drug targets in liquid biopsy: Exploratory study in liver cancer with modelling of EGFR Receptor engagement

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Liquid biopsy is minimally invasive (compared with tissue biopsy) and has previously been used to generate systems data regarding drug elimination via hepatic enzymes and transporters. This study extends quantitative assessment of systems parameters in liquid biopsy to pharmacodynamic (PD) and disease markers relevant to cancer development
Zubida M. Al‐Majdoub, Armin Sepp, Amin Rostami‐Hodjegan, Brahim Achour   +3 more
wiley   +1 more source

Mismatch repair enzyme expression in primary and castrate resistant prostate cancer

Asian Journal of Urology, 2016
Objective: Although the utility of immunohistochemistry (IHC) for assessing mismatch repair (MMR) protein expression has been demonstrated in solid tumors including primary prostate cancer (PCa), its utility has not been assessed in castration-resistant ...
Belinda Nghiem, Xiaotun Zhang, Hung-Ming Lam, Lawrence D. True, Ilsa Coleman, Celestia S. Higano, Peter S. Nelson, Colin C. Pritchard, Colm Morrissey   +8 more
doaj   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Distinct Phenotypes Caused by Mutation of MSH2 in Trypanosome Insect and Mammalian Life Cycle Forms Are Associated with Parasite Adaptation to Oxidative Stress.

PLoS Neglected Tropical Diseases, 2015
BackgroundDNA repair mechanisms are crucial for maintenance of the genome in all organisms, including parasites where successful infection is dependent both on genomic stability and sequence variation.
Viviane Grazielle-Silva, Tehseen Fatima Zeb, Jason Bolderson, Priscila C Campos, Julia B Miranda, Ceres L Alves, Carlos R Machado, Richard McCulloch, Santuza M R Teixeira   +8 more
doaj   +1 more source

Primary malignant pericardial tumour in Lynch syndrome

BMC Cancer, 2020
Background This case represents the first report of malignant primary cardiac tumour in a patient with Lynch Syndrome associated with MSH2 pathogenic variant.
Pasquale Paolisso, Giulia Saturi, Alberto Foà, Maristella Saponara, Margherita Nannini, Maria Abbondanza Pantaleo, Ornella Leone, Daniela Turchetti, Daniele Calistri, Carlo Savini, Davide Pacini, Carmine Pizzi, Nazzareno Galiè   +12 more
doaj   +1 more source

Living at genetic risk: The patient experience of Lynch syndrome

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome is a germline cancer predisposition syndrome caused by a variant in one of four genes. Lynch syndrome places individuals at significantly higher risk for a range of cancers, especially colorectal and endometrial. Depending on which gene is affected, the risk of ovarian, gastric, small bowel, pancreatic, biliary urothelial, brain,
Nicola Reents, Georgina Hoffmann, Kelly Kohut   +2 more
wiley   +1 more source