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Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.
Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a common autosomal dominant syndrome characterized by early age at onset, neoplastic lesions, and microsatelliteExpand
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Clues to the pathogenesis of familial colorectal cancer.
A predisposition to colorectal cancer is shown to be linked to markers on chromosome 2 in some families. Molecular features of "familial" cancers were compared with those of sporadic colon cancers.Expand
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Comprehensive Molecular Characterization of Human Colon and Rectal Cancer
To characterize somatic alterations in colorectal carcinoma, we conducted a genome-scale analysis of 276 samples, analysing exome sequence, DNA copy number, promoter methylation and messenger RNA andExpand
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Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma.
Inactivation of the genes involved in DNA mismatch repair is associated with microsatellite instability (MSI) in colorectal cancer. We report that hypermethylation of the 5' CpG island of hMLH1 isExpand
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APC mutations occur early during colorectal tumorigenesis
HUMAN tumorigenesis is associated with the accumulation of mutations both in oncogenes and in tumour suppressor genes1–3. But in no common adult cancer have the mutations that are critical in theExpand
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Genetic alterations during colorectal-tumor development.
Because most colorectal carcinomas appear to arise from adenomas, studies of different stages of colorectal neoplasia may shed light on the genetic alterations involved in tumor progression. WeExpand
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Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer.
BACKGROUND Colon cancers with high-frequency microsatellite instability have clinical and pathological features that distinguish them from microsatellite-stable tumors. We investigated the usefulnessExpand
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Mutations of two P/WS homologues in hereditary nonpolyposis colon cancer
HEREDITARY nonpolyposis colorectal cancer (HNPCC) is one of man's commonest hereditary diseases1. Several studies have implicated a defect in DNA mismatch repair in the pathogenesis of thisExpand
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Identification of a chromosome 18q gene that is altered in colorectal cancers.
Allelic deletions involving chromosome 18q occur in more than 70 percent of colorectal cancers. Such deletions are thought to signal the existence of a tumor suppressor gene in the affected region,Expand
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