Frontiers in Genetics, 2022 Lynch syndrome (LS) is a cancer-predisposing genetic disease mediated by pathogenic mutations in DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2.
Quanli Han +7 more
doaj +1 more source
Clinicopathological, Immunohistochemical, and PMS2 Gene Expression Profiling of Patients with Sporadic Colorectal Cancer [PDF]
Archives of Iranian Medicine, 2021 Background: The DNA mismatch repair (MMR) system is one of the molecular pathways involved in colorectal cancer (CRC) carcinogenesis that consists of several genes, including MLH1 (MutL homolog 1), MSH6 (MutS homolog 6), MSH2 (MutS homolog 2), and MSH3 (MutS homolog 3).
Maryam Mousavi +4 more
openaire +2 more sources
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene. [PDF]
Hum Mutat, 2013 Lynch syndrome (LS) is a common cancer predisposition caused by an inactivating mutation in one of four DNA mismatch repair (MMR) genes. Frequently a variant of uncertain significance (VUS), rather than an obviously pathogenic mutation, is identified in one of these genes.
Drost M, Koppejan H, de Wind N.
europepmc +5 more sources
BJS (British Journal of Surgery), EarlyView., 2020 Recommendations for clinical and molecular identification of LS, surgical and endoscopic management of LS‐associated colorectal cancer and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum.
T. T. Seppälä +18 more
wiley +1 more source
Novel roles for MLH3 deficiency and TLE6-like amplification in DNA mismatch repair-deficient gastrointestinal tumorigenesis and progression. [PDF]
PLoS Genetics, 2008 DNA mismatch repair suppresses gastrointestinal tumorgenesis. Four mammalian E. coli MutL homologues heterodimerize to form three distinct complexes: MLH1/PMS2, MLH1/MLH3, and MLH1/PMS1.
Peng-Chieh Chen +9 more
doaj +1 more source
Clinical exome performance for reporting secondary genetic findings. [PDF]
, 2014 BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P +6 more
core +1 more source
Genotypes of Papillary Thyroid Carcinoma With High Lateral Neck Metastasis in Chinese Population
Frontiers in Oncology, 2022 Papillary Thyroid Carcinoma (PTC) is one of the most commonly diagnosed cancer types in China, characterized by its early age at diagnosis and high 25-year survival rate.
Wei Guo +5 more
doaj +1 more source
Mismatch Repair Gene PMS2 [PDF]
Cancer Research, 2004 Abstract The MutLα heterodimer formed by mismatch repair (MMR) proteins MLH1 and PMS2 is a major component of the MMR complex, yet mutations in the PMS2 gene are rare in the etiology of hereditary nonpolyposis colorectal cancer. Evidence from five published cases suggested that contrary to the Knudson principle, PMS2 mutations cause ...
Hidewaki Nakagawa +7 more
openaire +1 more source
Expression of the DNA mismatch repair proteins hMLH1 and hPMS2 in normal human tissues. [PDF]
, 1997 hMLH1 and hPMS2 are part of the DNA mismatch repair complex. Mutations in these genes have been linked to hereditary non-polyposis colon cancer; they also occur in a variety of sporadic cancers. Western blot analysis and immunohistochemistry demonstrated
Aebi, S +6 more
core +1 more source
Pms2 deficiency results in increased mutation in the Hprt gene but not the Tk gene of Tk+/- transgenic mice [PDF]
Mutagenesis, 2003 The effects of deficiency in the DNA mismatch repair (MMR) protein Pms2 were investigated using the endogenous mouse Hprt and Tk genes as reporters of intragenic mutation and loss of heterozygosity (LOH). Pms2(-/-)Tk(+/-), Pms2(+/+)Tk(+/-), Pms2(+/-)Tk(+/-) and Pms2(-/-)Tk(-/-) mice were bred from Pms2(+/-)Tk(+/-) mice.
Vasily N, Dobrovolsky +5 more
openaire +2 more sources