Results 191 to 200 of about 21,552 (215)

The frequency of previously undetectable deletions involving 3′ Exons of the PMS2 gene

Genes, Chromosomes and Cancer, 2012
AbstractLynch syndrome is characterized by mutations in one of four mismatch repair genes, MLH1, MSH2, MSH6, or PMS2. Clinical mutation analysis of these genes includes sequencing of exonic regions and deletion/duplication analysis. However, detection of deletions and duplications in PMS2 has previously been confined to Exons 1–11 due to gene ...
Cecily P, Vaughn, Christine L, Baker, Wade S, Samowitz, Jeffrey J, Swensen   +3 more
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High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families

Clinical Genetics, 2013
Lynch syndrome (LS) is caused by germline mutations in one of the four mismatch repair (MMR) genes. Defects in this pathway lead to microsatellite instability (MSI) in DNA tumors, which constitutes the molecular hallmark of this disease. Selection of patients for genetic testing in LS is usually based on fulfillment of diagnostic clinical criteria (i.e.
A J, Brea-Fernández, J M, Cameselle-Teijeiro, C, Alenda, C, Fernández-Rozadilla, J, Cubiella, J, Clofent, J M, Reñé, U, Anido, M, Milá, F, Balaguer, A, Castells, S, Castellvi-Bel, R, Jover, A, Carracedo, C, Ruiz-Ponte   +14 more
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PMS2 Gene Mutational Analysis: Direct cDNA Sequencing to Circumvent Pseudogene Interference

2014
The presence of highly homologous pseudocopies can compromise the mutation analysis of a gene of interest. In particular, when using PCR-based strategies, pseudogene co-amplification has to be effectively prevented. This is often achieved by using primers designed to be parental gene specific according to the reference sequence and by applying ...
Katharina, Wimmer, Annekatrin, Wernstedt
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[Inactivation of PMS2 gene by promoter methylation in nasopharyngeal carcinoma].

Zhonghua zhong liu za zhi [Chinese journal of oncology], 2017
Objective: To investigate the inactivation of PMS2 gene mediated by promoter methylation and its regulatory mechanism in nasopharyngeal carcinoma (NPC). Methods: Fifty-four NPC tissues, 16 normal nasopharyngeal epithelia (NNE), 5 NPC cell lines (CNE1, CNE2, TWO3, HNE1 and HONE1) and 1 normal nasopharyngeal epithelial cell line (NP69) were collected ...
H F, Ni, B, Jiang, Z, Zhou, Y, Li, X Y, Yuan, X L, Cao, G W, Huang   +6 more
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EXAMINATION OF CHROMOSOME 7p22 CANDIDATE GENES RBaK, PMS2 AND GNA12 IN FAMILIAL HYPERALDOSTERONISM TYPE II

Clinical and Experimental Pharmacology and Physiology, 2008
SUMMARY There are two types of familial hyperaldosteronism (FH): FH‐I and FH‐II. FH‐I is caused by a hybrid CYP11B1/CYP11B2 gene mutation. The genetic cause of FH‐II, which is more common, is unknown. Adrenal hyperplasia and adenomas are features. We previously reported linkage of FH‐II to a ~5 Mb region on chromosome 7p22.
Jeske, Y., So, A., Kelemen, L, Sukor, N., Willys, C., Bulmer, B. J., Gordon, R. D., Duffy, D., Stowasser, M.   +8 more
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Abstract 2108: Prevalence of mutations in MSH6, PMS1 and PMS2 gene in Brazilian families with Lynch syndrome

Cancer Research, 2012
Abstract Background: Lynch syndrome (LS) is an autosomal dominant disorder predisposing to colorectal cancer and increased risk for cancers of the stomach, small intestine, hepatobiliary system, kidney, ureter, ovary, and sebaceous tumors.
Felipe C. Silva, Giovana T. Torrezan, Bianca G. Lisboa, Erika M. Santos, Israel Gomy, Benedito M. Rossi, Fabio O. Ferreira, Dirce M. Carraro   +7 more
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Abstract 5264: A novel strategy for accuurate and unambiguous mutation detection of the highly homologous PMS2 gene

Cancer Research, 2015
Abstract Background: Heterozygous mutations in the DNA mismatch repair gene, PMS2 contribute to Lynch syndrome. Carrier individuals are at increased risk of developing cancers, including colorectal and endometrial cancers. Biallelic mutations in PMS2 can cause constitutional mismatch-repair-deficiency syndrome, which is characterized by ...
Jianli Li, Hongzheng Dai, Yangming Feng, Jia Tang, Stella Chen, Xia Tian, Elizabeth Gorman, Eric S. Schmitt, Jing Wang, Victor Wei Zhang, Lee-Jun Wong   +10 more
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Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.

Cancer research, 2004
The MutLalpha 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 hereditary nonpolyposis ...
Hidewaki, Nakagawa, Janet C, Lockman, Wendy L, Frankel, Heather, Hampel, Kelle, Steenblock, Lawrence J, Burgart, Stephen N, Thibodeau, Albert, de la Chapelle   +7 more
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Analysis of the MLH1, MLH2, MLH6, PMS2 genes and their correlations with clinical data in rectal mucinous adenocarcinoma.

Annali italiani di chirurgia, 2022
Microsatellites are short repeated DNA sequences normally found in the human genome. Following specific mutations, microsatellites can vary in the number of repeats thus making the DNA unstable. Microsatellite instability (MSI) is responsible for approximately 20% of rectal cancers, while the remaining 80% are caused by chromosomal instability.
Florin, Graur, Aida, Puia, Emil, Mois, Paula, Pop, Mihaela, Berar, Radu, Elisei, Florin, Zaharie, Vlad, Nechita, Ioana, Rusu, Rareș, Buiga, Cosmin, Puia, Nadim, Al Hajjar   +11 more
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Promoter mutation analysis of PMS2 gene in solid tumors and acute leukemias

Pathology - Research and Practice, 2019
Ha Yoon, Mo, Eun Ji, Choi, Nam Jin, Yoo, Sug Hyung, Lee   +3 more
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