Evaluation of MLH1 and MSH2 Gene Mutations in a Subset of Iranian Families with Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
نویسندگان: ثبت نشده
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Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families.
Hereditary nonpolyposis colorectal cancer (HNPCC) is due to defects in DNA mismatch repair (MMR) genes MSH2, MLH1, MSH6, and to a lesser extent PMS2. Of 466 suspected HNPCC families, we defined 54 index patients with either tumors of high microsatellite instability (MSI-H) and/or loss of expression for either MLH1, MSH2, and/or MSH6, but without a detectable pathogenic point mutation in these g...
متن کاملSpectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
Mutations in DNA MMR genes, mainly MSH2 and MLH1, account for the majority of HNPCC, an autosomal dominant predisposition to colorectal cancer and other malignancies. The evaluation of many questions regarding HNPCC requires clinically and genetically well-characterized HNPCC patient cohorts of reasonable size. One main focus of this multicenter study is the evaluation of the mutation spectrum ...
متن کاملHereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome.
BACKGROUND Hereditary nonpolyposis colorectal cancer HNPCC, Lynch syndrome) is a genetic disease of autosomal dominant inheritance. It is caused by a mutation in one of four genes of the DNA mismatch repair system and confers a markedly increased risk for various types of cancer, particularly of the colon and the endometrium. Its prevalence in the general population is about 1 in 500, and it ca...
متن کاملسه موتاسیون ژرم لاین جدید در ژن MLH1 در بیماران مبتلا به سرطان کولورکتال ارثی
Abstract Background: Hereditary non-polyposis colorectal cancer is the most common cause of early onset of hereditary colorectal cancer. In the majority of Hereditary non-polyposis colorectal cancer families, microsatellite instability and germline mutation in one of the DNA mismatch repair genes in clouding MSH2, MLH1, MSH6 and PMS2 are found. The Objective of this study was to determine th...
متن کاملRetrospective analysis of patients with hereditary nonpolyposis colorectal cancer (HNPCC)
We performed a one–center cohort retrospective analysis of 1378 non-selected patients operated for colorectal cancer (CRC) in the years 1994 – 2013. For the purpose of this study we divided patients into three subdivisions reflecting their family history of HNPCC–associated cancers among firstand second-degree relatives. On detailed pedigree analysis of the families we identified 59 patients as...
متن کاملHereditary Nonpolyposis Colorectal Cancer (HNPCC)/Lynch Syndrome: Surveillance and Diagnostic strategies
Introduction: Hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) is an autosomal dominant genetic disease. The disease is caused by a mutation in one of four genes of the DNA mismatch repair system and increases the risk for various cancers, especially the uterine and colon cancers. The prevalence of this disease in the general population is about 1 in 500 and it causes about 2-3...
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عنوان ژورنال
دوره 20 شماره 1
صفحات -
تاریخ انتشار 2009-03-01
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