نتایج جستجو برای: سرطان روده بزرگ غیرارثی hnpcc

تعداد نتایج: 43193  

Journal: :Journal of medical genetics 2004
E Domingo P Laiho M Ollikainen M Pinto L Wang A J French J Westra T Frebourg E Espín M Armengol R Hamelin H Yamamoto R M W Hofstra R Seruca A Lindblom P Peltomäki S N Thibodeau L A Aaltonen S Schwartz

BACKGROUND According to the international criteria for hereditary non-polyposis colorectal cancer (HNPCC) diagnostics, cancer patients with a family history or early onset of colorectal tumours showing high microsatellite instability (MSI-H) should receive genetic counselling and be offered testing for germline mutations in DNA repair genes, mainly MLH1 and MSH2. Recently, an oncogenic V600E ho...

Journal: :Anticancer research 2007
Arvids Irmejs Viktors Borosenko Inga Melbarde-Gorkusa Andris Gardovskis Marianna Bitina Grzegorz Kurzawski Janina Suchy Bohdan Gorski Janis Gardovskis

BACKGROUND The mutational spectrum of mismatch repair (MMR) genes in the Baltic States has been reported to be quite similar to that in Poland; however during a country-wide study considerable differences in the population of Latvia were discovered. This study was undertaken to investigate the clinical and molecular features of HNPCC in Latvia. MATERIALS AND METHODS Family cancer histories we...

2017
Nicholas Taylor David G. Mutch

Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer susceptibility syndrome associated with inherited defects in the DNA mismatch repair system. HNPCC family members are at high risk for developing colorectal, endometrial, and ovarian cancers. Studies of HNPCC families have helped define the important role that mismatch repair genes play in the molecular pathogenes...

Journal: :Cancer research 2001
A Loukola K Eklin P Laiho R Salovaara P Kristo H Järvinen J P Mecklin V Launonen L A Aaltonen

Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer predisposition syndrome caused by germ-line mutations in DNA mismatch repair genes. It is relevant to identify HNPCC patients because colonoscopic screening of individuals with HNPCC mutations reduces cancer morbidity and mortality. Microsatellite instability (MSI) is characteristic of HNPCC tumors. A panel of fiv...

Journal: :Japanese journal of clinical oncology 2002
Yoshihito Ichikawa Hajime Tsunoda Katsumi Takano Akinori Oki Hiroyuki Yoshikawa

Hereditary nonpolyposis colorectal cancer (HNPCC)-related endometrial cancer is associated with mutations in DNA mismatch repair genes. However, chronological changes of these genes in the endometrium have not been studied in women from HNPCC families. Tissue samples of normal endometrium, endometrial hyperplasia without atypia and endometrial cancer were collected at different times from a 41-...

Journal: :Journal of medical genetics 2009
M P Hitchins R L Ward

Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant syndrome characterised by a predisposition to early onset colorectal, endometrial and other cancers. The tumours typically exhibit microsatellite instability due to defective mismatch repair. HNPCC is classically caused by heterozygous loss-of-function mutations within the mismatch repair genes MLH1, MSH2, MSH6 and PMS2...

ژورنال: سلول و بافت 2012

هدف:کورکومین دارای خواص آنتی‌اکسیدانی و ضدالتهابی است. القای بیانAQP5، عضوی از خانواده آکواپورین ها، از پروتئین‌های کانال آبی غشایی، در مراحل اولیه سرطان روده این حدس را بر می‌انگیزد که AQP5 یک نیروی به پیش برنده در آغاز سرطانزایی روده است. . فرض بر آن بود که کورکومین می تواند سطوح پروتئین آکواپورین 5 را در سلولهای سرطانی روده hct116 کاهش دهد. مواد و روش‏ها: سلول‏های سرطانی روده hct116 در محیط...

Journal: :Cancer research 2001
M Pedroni E Sala A Scarselli F Borghi M Menigatti P Benatti A Percesepe G Rossi M Foroni L Losi C Di Gregorio A De Pol R Nascimbeni E Di Betta B Salerni M P de Leon L Roncucci

Aberrant crypt foci (ACF) are microscopic clusters of altered colonic crypts considered premalignant lesions in the large bowel. Genomic instability at short tandem repeats in the DNA, referred to as microsatellite instability (MSI) is the hallmark of hereditary nonpolyposis colorectal carcinoma (HNPCC) caused by mutations in DNA mismatch-repair genes, mostly hMLH1 and hMSH2. In this study, we ...

Journal: :Journal of the National Cancer Institute 1995
M L Brown L G Kessler

Several mutations recently have been shown to be associated with hereditary nonpolyposis colon cancer (HNPCC) in families displaying unusually strong predisposition to colorectal cancer. Laboratory tests to detect such gene mutations soon will be commercially available, raising the possibility for population-wide screening. The purpose of this study was to explore the economic implications of c...

Journal: :Journal of medical genetics 2001
A Wagner Y Hendriks E J Meijers-Heijboer W J de Leeuw H Morreau R Hofstra C Tops E Bik A H Bröcker-Vriends C van Der Meer D Lindhout H F Vasen M H Breuning C J Cornelisse C van Krimpen M F Niermeijer A H Zwinderman J Wijnen R Fodde

Hereditary non-polyposis colorectal cancer (HNPCC) is the most common genetic susceptibility syndrome for colorectal cancer. HNPCC is most frequently caused by germline mutations in the DNA mismatch repair (MMR) genes MSH2 and MLH1. Recently, mutations in another MMR gene, MSH6 (also known as GTBP), have also been shown to result in HNPCC. Preliminary data indicate that the phenotype related to...

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