نتایج جستجو برای: mismatch repair genes

تعداد نتایج: 571705  

Journal: :The Malaysian journal of pathology 2013
J J Khoo A Gunn S C Peh

Malignant transformation from normal colonic mucosa to carcinomas may be accelerated by genetic loss or inactivation of genes of the DNA mismatch repair system. The aim of the study was to determine the local incidence and pattern of immunohistochemical expression of mismatch repair proteins namely: hMLH1, hMSH2 and hMSH6 in a series of colorectal carcinomas (CRCs) and correlate this to their c...

Journal: :Molecular biology and evolution 1994
A Eyre-Walker

It has been suggested that the differences in synonymous codon use between mammalian genes within a genome are due to differences in the efficiency of DNA mismatch repair. This hypothesis was tested by developing a model of mismatch repair, which was used to predict the expected relationship between the rate of substitution and G+C content at silent sites. It was found that the silent-substitut...

2017
Sigurdis Haraldsdottir Thorunn Rafnar Wendy L Frankel Sylvia Einarsdottir Asgeir Sigurdsson Heather Hampel Petur Snaebjornsson Gisli Masson Daniel Weng Reynir Arngrimsson Birte Kehr Ahmet Yilmaz Stefan Haraldsson Patrick Sulem Tryggvi Stefansson Peter G Shields Fridbjorn Sigurdsson Tanios Bekaii-Saab Pall H Moller Margret Steinarsdottir Kristin Alexiusdottir Megan Hitchins Colin C Pritchard Albert de la Chapelle Jon G Jonasson Richard M Goldberg Kari Stefansson

Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch syndrome, associated cancer risks and pathogenicity of several variants in the Icelandic population. We use colorectal cancer samples from 1,182 p...

Journal: :Cancer research 1999
H Zhang B Richards T Wilson M Lloyd A Cranston A Thorburn R Fishel M Meuth

Mutations of the mismatch repair genes hMSH2 and hMLH1 have been found in a high proportion of individuals with hereditary nonpolyposis colon cancer (HNPCC), establishing the link between mismatch repair and cancer. Tumor cell lines that are deficient in mismatch repair develop a mutator phenotype that appears to drive the accumulation of mutations required for tumor development. However, mutat...

Journal: :گوارش 0
mahsa molaei mehdi yadollahzadeh babak mansoori fatemeh nemati narges zali mehdi montazer-haghighi

background: germline mutations in mmr genes are reported to be present in more than 70% of hnpcc cases. but, there is a paucity of data regarding the importance of defect of mmr system in the gastric cancer in general. so, in this study, we used ihc stain formlh1,msh2, pms2 andmsh6 to reveal profile ofmmr expression in patients with gastric cancer. materials and methods: this study was performe...

2017
Kouji Banno Iori Kisu Megumi Yanokura Yuya Nogami Kiyoko Umene Kosuke Tsuji Kenta Masuda Arisa Ueki Nobuyuki Susumu Daisuke Aoki

Journal: :Gut 2000
J M Wheeler W F Bodmer N J Mortensen

Journal: :Cancer research 1996
C D Heinen N Shivapurkar Z Tang J Groden O Alabaster

Aberrant crypt foci (ACF) are distinct microscopic lesions of the colon thought to be the earliest identifiable precursors of colon cancer. As precursors of colon cancer, ACF may contain mutations in genes that are altered early in colorectal tumorigenesis. Candidates for these genes include APC, K-Ras, and those of the DNA mismatch repair system. Some colon cancers with mutations in DNA mismat...

Journal: :Hepatology 1998
G A Macdonald J K Greenson K Saito S P Cherian H D Appelman C R Boland

DNA mismatch repair is an important mechanism involved in maintaining the fidelity of genomic DNA. Defective DNA mismatch repair is implicated in a variety of gastrointestinal and other tumors; however, its role in hepatocellular carcinoma (HCC) has not been assessed. Formalin-fixed, paraffin-embedded archival pathology tissues from 46 primary liver tumors were studied by microdissection and mi...

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