Results 101 to 110 of about 42,200 (256)
Characterization of a rare variant (c.2635-2A>G) of the gene in a family with Lynch syndrome
The International Journal of Biological Markers, 2018 Introduction: Lynch syndrome is caused by germline mutations in one of the mismatch repair genes ( MLH1, MSH2, MSH6 , and PMS2) or in the EPCAM gene. Lynch syndrome is defined on the basis of clinical, pathological, and genetic findings. Accordingly, the
Filomena Cariola +12 more
doaj +1 more source
N‐terminus of hMLH1 confers interaction of hMutLα and hMutLβ with hMutSα [PDF]
, 2006 Mismatch repair is a highly conserved system that ensures replication fidelity by repairing mispairs after DNA synthesis. In humans, the two protein heterodimers hMutSα (hMSH2‐hMSH6) and hMutLα (hMLH1‐hPMS2) constitute the centre of the repair reaction ...
Brieger, Angela +4 more
core
Estradiol regulates miR-135b and mismatch repair gene expressions via estrogen receptor-β in colorectal cells. [PDF]
, 2012 Estrogen has anti-colorectal cancer effects which are thought to be mediated by mismatch repair gene (MMR) activity. Estrogen receptor (ER) expression is associated with microRNA (miRNA) expression in ER-positive tumors.
Fu, Lei +6 more
core +1 more source
Journal of Oral Pathology &Medicine, EarlyView.ABSTRACT Introduction While the prevalence of microsatellite instability (MSI) is low in the whole head and neck squamous cell carcinoma (HNSCC) population, it has been suggested to be more prominent in tumors of non‐smokers. Therefore, the goal of this study was to determine the presence of MSI in a cohort of well‐defined HNSCC of non‐smokers and non ...
F. J. Mulder +7 more
wiley +1 more source
DEN Open, Volume 6, Issue 1, April 2026.Abstract Objective Recent advancements in genome analyses, including the BRAF gene and mismatch repair (MMR) gene/microsatellite instability (MSI), have revealed the biological diversity of colorectal cancer (CRC). BRAF‐mutated CRC has a poor prognosis; however, cases exhibiting deficient MMR (dMMR)/MSI‐high (MSI‐H) and BRAF gene mutations have ...
Rika Omote +7 more
wiley +1 more source
Role of Mismatch Repair Enzymes in GAA•TTC Triplet-repeat Expansion in Friedreich Ataxia Induced Pluripotent Stem Cells [PDF]
, 2012 The genetic mutation in Friedreich ataxia (FRDA) is a hyperexpansion of the triplet-repeat sequence GAA•TTC within the first intron of the FXN gene. Although yeast and reporter construct models for GAA•TTC triplet-repeat expansion have been reported ...
Campau, Erica +6 more
core +2 more sources
DEN Open, Volume 6, Issue 1, April 2026.ABSTRACT Recently, zolbetuximab combined with chemotherapy has been approved as a first‐line treatment for advanced gastric cancer (GC). However, to date, no endoscopic images demonstrating endoscopic complete response (eCR) to zolbetuximab plus chemotherapy have been reported.
Akinori Sasaki +6 more
wiley +1 more source
DEN Open, Volume 6, Issue 1, April 2026.ABSTRACT Spontaneous regression of endoscopically invasive colorectal cancer (CRC) after biopsy has been rarely reported. We report three cases of endoscopically invasive CRC with spontaneous regression after biopsy and a review of the literature regarding spontaneous regression of CRC with somatic mismatch repair deficiency (MMR‐d).
Fumiya Okano +8 more
wiley +1 more source
GENETIC COUNSELOR UTILIZATION AND INTERPRETATION OF SOMATIC TUMOR TESTING IN EVALUATION FOR LYNCH SYNDROME [PDF]
, 2019 Lynch syndrome (LS) is a hereditary cancer predisposition syndrome characterized by increased risk for colorectal and uterine cancers. Individuals with pathogenic variants in the mismatch repair (MMR) genes (MLH1, MSH2/EPCAM, MSH6, PMS2) are diagnosed ...
Williams, Danielle
core +1 more source