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Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors.
PURPOSE To compare microsatellite instability (MSI) testing with immunohistochemical (IHC) detection of hMLH1 and hMSH2 in colorectal cancer. PATIENTS AND METHODS Colorectal cancers from 1,144Expand
MADR2 Maps to 18q21 and Encodes a TGFβ–Regulated MAD–Related Protein That Is Functionally Mutated in Colorectal Carcinoma
The MAD-related (MADR) family of proteins are essential components in the signaling pathways of serine/threonine kinase receptors for the transforming growth factor beta (TGFbeta) superfamily. WeExpand
Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X.
CONTEXT Approximately 60% of families that meet the Amsterdam-I criteria (AC-I) for hereditary nonpolyposis colorectal cancer (HNPCC) have a hereditary abnormality in a DNA mismatch repair (MMR)Expand
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society forExpand
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
Isolated human microphthalmia/anophthalmia, a cause of congenital blindness, is a clinically and genetically heterogeneous developmental disorder characterized by a small eye and other ocularExpand
MLH1 -93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer.
BACKGROUND Although up to 30% of patients with colorectal cancer have a positive family history of colorectal neoplasia, few colorectal cancers can be explained by mutations in high-penetrance genes.Expand
Genotype-phenotype correlations in attenuated adenomatous polyposis coli.
Germ-line mutations of the tumor suppressor APC are implicated in attenuated adenomatous polyposis coli (AAPC), a variant of familial adenomatous polyposis (FAP). AAPC is recognized by the occurrenceExpand
MSH2 deficiency contributes to accelerated APC-mediated intestinal tumorigenesis.
Accelerated intestinal tumorigenesis is probable in hereditary nonpolyposis colorectal cancer, a condition associated with germ line DNA mismatch repair (MMR) gene defects, and is believed to beExpand
MSH2 deficient mice are viable and susceptible to lymphoid tumours
Alterations of the human MSH2 gene, a homologue of the bacterial MutS mismatch repair gene, co–segregate with the majority of hereditary non–polyposis colon cancer (HNPCC) cases. We have generatedExpand
Beta-catenin mutations are specific for colorectal carcinomas with microsatellite instability but occur in endometrial carcinomas irrespective of mutator pathway.
Some colorectal tumors with wild-type adenomatous polyposis coli gene have activating mutations in beta-catenin (encoded by CTNNB1) that result in decreased phosphorylation by GSK-3beta and increasedExpand