Results 151 to 160 of about 40,013 (196)

Msh2 Deficiency Attenuates But Does Not Abolish Thiopurine Hematopoietic Toxicity in Msh2-- Mice

Molecular Pharmacology, 2003
The amount of MSH2 protein, a major component of the mismatch repair system, was found to differ >10-fold in leukemia cells from children with newly diagnosed acute lymphoblastic leukemia, with a subgroup of patients (17%) having undetectable MSH2 protein.
Natalia F, Krynetskaia   +6 more
openaire   +2 more sources

MLH1 and MSH2 Expression in Pterygia

Cornea, 2007
Pterygia have been reported to share some of the genetic defects seen in cancers, including microsatellite instability (MSI). We examined pterygia for the presence of proteins typically missing or defective in adenocarcinomas with MSI. We also performed microsatellite analysis on DNA from pterygia to test for instability in the size of the ...
Barbara G, Schneider   +4 more
openaire   +2 more sources

Functional and phenotypic consequences of an unusual inversion in MSH2

Familial Cancer, 2023
Lynch syndrome is an autosomal dominant disorder that usually results from a pathogenic germline variant in one of four genes (MSH2, MSH6, MLH1, PMS2) involved in DNA mismatch repair. Carriers of such variants are at risk of developing numerous cancers during adulthood.
Dylan, Pelletier   +9 more
openaire   +2 more sources

Cytoplasmic MSH2 immunoreactivity in a patient with Lynch syndrome with an EPCAMMSH2 fusion

Histopathology, 2016
AimsImmunohistochemistry for mismatch repair (MMR) proteins is being increasingly used to examine MMR status in tumours. The aim of the present article was to report the case of a colon cancer patient with Lynch syndrome who showed unusual cytoplasmic MMR protein localization.Methods and resultsHistologically, the colon cancer was diagnosed as ...
Shigeki, Sekine   +9 more
openaire   +2 more sources

The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours

Familial Cancer, 2003
Hereditary nonpolyposis colorectal cancer (HNPCC) may be caused by germline truncating mutations in DNA mismatch repair (MMR) genes. Whether or not missense or inframe mutations are disease-associated has become a practical clinical problem, because predictive genetic testing is employed to select high-risk persons for clinical examinations.
Astrid T, Stormorken   +9 more
openaire   +2 more sources

Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC

Clinical Genetics, 2007
Hereditary non‐polyposis colorectal cancer (HNPCC) is caused by inactivating mutations of DNA mismatch repair genes. Large genomic rearrangements in these genes have been increasingly recognized as important causes of HNPCC. Using multiplex ligation‐dependent probe amplification, we identified three MSH2 deletions in Italian patients with HNPCC ...
Stella, A   +10 more
openaire   +4 more sources

Adrenocortical adenocarcinoma in an MSH2 carrier: Coincidence or causal relation?

Human Pathology, 2000
A woman is described who developed an ovarian adenocarcinoma, 3 metachronous colorectal adenocarcinomas, and a primary adrenocortical adenocarcinoma. Genetic investigation of the mismatch repair genes MLH1 and MSH2 showed a germline mutation in MSH2.
Berends, M J   +9 more
openaire   +2 more sources

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