Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutations.
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چکیده
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سه 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 کاملONLINE MUTATION REPORT Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutations
H ereditary non-polyposis colon cancer (HNPCC) is a multi-organ cancer syndrome associated with hereditary defects in DNA mismatch repair (MMR). To date, more than 400 predisposing mutations have been deposited in the ICG-HNPCC mutation database, mostly affecting MLH1 (<50%), MSH2 (<40%), and MSH6 (<10%) (www.nfdht.nl/). Over half of all HNPCC-linked MMR gene mutations consist of nonsense or fr...
متن کاملMolecular Analysis of Microsatellite Instability in Hereditary Non Polyposis Colon Carcinoma Patients from North-East Iran
Background and Objectives: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer predisposition syndrome caused by germ-line mutations in DNA mismatch repair genes. Tumors arising as a result of these mutations display instability in a sequence area known as microsatellites. Studies have shown that some Bethesda markers (BAT25, BAT26) are more efficient than other...
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wnloaded mismatch repair (MMR) pathway is involved in the removal of DNA base mismatches that arise during DNA replication or are caused by DNA damage. Mutations in four genes involved in MMR, , MLH1, PMS2 and MSH6, predispose to a range of tumorigenic conditions, including hereditary lyposis colon cancer, also known as Lynch syndrome. Here we discuss the canonical MMR pathway e burgeoning evid...
متن کاملFrequent genomic disorganisation of MLH1 in hereditary non-polyposis colorectal cancer (HNPCC) screened by RT-PCR on puromycin treated samples.
Hereditary non-polyposis colorectal cancer (HNPCC) is a dominantly inherited autosomal disease presumed to comprise at least 5-8% of all colorectal cancer (CRC) cases. HNPCC is characterised by the early onset of colon tumours mostly located proximal to the splenic flexure and extracolonic tumours. HNPCC families segregate germline mutations in one of the several DNA mismatch repair genes, such...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 41 7 شماره
صفحات -
تاریخ انتشار 2004