Copy Number Variation in Hereditary Non-Polyposis Colorectal Cancer

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Copy Number Variation in Hereditary Non-Polyposis Colorectal Cancer

Hereditary non-polyposis colorectal cancer (HNPCC) is the commonest form of inherited colorectal cancer (CRC) predisposition and by definition describes families which conform to the Amsterdam Criteria or reiterations thereof. In ~50% of patients adhering to the Amsterdam criteria germline variants are identified in one of four DNA Mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. Loss of ...

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The prevalence of colorectal adenoma in 23 affected patients with hereditary non-polyposis colorectal cancer (HNPCC) was compared with that in an age matched forensic autopsy population. The mean ages at diagnosis of colorectal cancer in men (13) and women (10) were 39 and 37 years respectively. In HNPCC patients who presented below the age of 50 years, at least one adenoma was found in 3 of 10...

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[Hereditary non-polyposis colorectal cancer (HNPCC)].

Hereditary non-polyposis colorectal cancer (HNPCC) is a type of hereditary colorectal cancer with autosomal dominant traits. Its causal genes are mismatch repair genes such as the hMSH2 and hMLH1 genes. Owing to its frequency, juvenile onset, and the outbreaks of multiple colorectal cancers and cancers occurring over multiple organs, it is recognized as a very important disease for the purpose ...

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Fordyce granules and hereditary non-polyposis colorectal cancer syndrome.

BACKGROUND Germline mutations in mismatch repair (MMR) genes are found in only about half of clinically diagnosed families with hereditary non-polyposis colorectal cancer syndrome (HNPCC) (or Lynch syndrome). Early identification of gene carriers is essential to reduce cancer incidence and overall mortality. AIMS Recent evidence indicates an increase in size and number of sebaceous glands fol...

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ژورنال

عنوان ژورنال: Genes

سال: 2013

ISSN: 2073-4425

DOI: 10.3390/genes4040536