Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The review of the available literature seems to suggest that the frequency of HNPCC in Caucasian populations ranges between a minimum estimate of 1 percent to a maximum of almost 6 percent of all colorectal carcinomas.
|
7979197 |
1994 |
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The identification of HNPCC is often difficult, owing to the lack of biomarkers and the extreme frequency of sporadic colorectal cancer in the Western World.
|
8387880 |
1993 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The objectives of the study were to ascertain in each of the participating centers the number of HNPCC families, the recommended screening procedures, the age at diagnosis of colorectal cancer (CRC), and the occurrence of interval cancers.
|
8416772 |
1993 |
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
MLH1-associated colorectal cancer has a natural history different from that of common sporadic colorectal cancer.
|
8608876 |
1996 |
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Hereditary non-polyposis colorectal cancer (HNPCC or Lynch syndrome) is characterized by early occurrence of colorectal malignancies, localization of tumors in the proximal colon, frequency of multiple primaries (both synchronous and metachronous) and an autosomal dominant type of genetic transmission.
|
8644370 |
1996 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In order to better understand the role of somatic and germline alterations within hMSH2 and hMLH1 in the process of colorectal tumorigenesis, we examined the entire coding regions of both of these genes in seven patients with MIN+ sporadic colorectal cancer, 19 patients with familial colorectal cancer, and 20 patients meeting the strict Amsterdam criteria for HNPCC.
|
8872463 |
1996 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Evidence supporting the role of MMR defects in carcinogenesis comes from a variety of independent sources including: (i) theoretical considerations of the requirement for a mutator phenotype as a step in multistage carcinogenesis; (ii) discovering that MMR defects cause a 'mutator phenotype' destabilizing endogenous expressed genes including those integral to carcinogenesis; (iii) finding MMR defects in the germline of HNPCC kindred members; (iv) finding that such defects behave as classic tumor suppressor genes in both familial and sporadic colorectal cancers; (v) discovering that MMR 'knockout' mice have an increased incidence of tumors; and (vi) discovering that genetic complementation of MMR defective cells stabilizes the MMR deficiency-associated microsatellite instability.
|
8875255 |
1996 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have searched for allele loss at the hMSH2 and hMLH1 loci in RER+ and RER- sporadic colorectal cancers.
|
8932328 |
1996 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The detection of five germline hMLH1 mutations in five families that only partially fulfilled the Amsterdam criteria shows that these criteria do not allow the identification of all familial colorectal cancers due to mutations of the mismatch repair genes.
|
8971183 |
1996 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline heterozygous inactivating mutations of MSH2 and MLH1 have been identified previously in a substantial fraction of individuals who are predisposed genetically to colorectal carcinoma (CRC) and other tumors of the HNPCC spectrum.
|
8993976 |
1997 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, we screened 12 primary sporadic colorectal cancers with microsatellite instability for mutations in MSH2 and MLH1 by using reverse transcription-polymerase chain reaction (RT-PCR) and single-strand-conformation-variant (SSCV) analysis.
|
8993979 |
1997 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer.
|
9032648 |
1997 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer.
|
9032648 |
1997 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis.
|
9087566 |
1997 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In order to assess the role of these genes in sporadic RER+ colorectal carcinoma, we have carried out a mutation analysis of MSH2 and MLH1 by two-dimensional (2-D) DNA electrophoresis, including heteroduplexing and separation in a denaturing gradient.
|
9087566 |
1997 |
Colorectal Carcinoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
We studied replication error in 40 samples of randomly selected colorectal cancers and expression of hMSH2 and hMLH1 proteins analyzed by immunoblot in the tumor and normal tissues of the replication error-positive and replication error-negative samples.
|
9378008 |
1997 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We analyzed microsatellite instability, alterations of the polyadenine tract in TGF-beta RII (transforming growth factor beta type II receptor gene), and mutations of hMSH2 and hMLH1 in 32 patients with familial colorectal cancer (29 kindreds) fulfilling the clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC), defined at the 34th Annual Meeting of Japanese Society for Cancer of the Colon and Rectum (Tokushima, Japan, 1991), including five kindreds fulfilling the Amsterdam criteria.
|
9419403 |
1997 |
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Recently, alterations in DNA mismatch repair genes, including hMSH2, hMLH1, and hPMS2, have been implicated in the pathogenesis of HNPCC: Several studies have demonstrated RER in 13-17% of nonfamilial colorectal carcinomas.
|
9445183 |
1998 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An intronic germline transition in the HNPCC gene hMSH2 is associated with sporadic colorectal cancer.
|
9470849 |
1997 |
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
To investigate the effect of wild-type hMLH1 in cellular proliferation, wild-type hMLH1 cDNA was introduced into human colorectal carcinoma cell line HCT116 and human gastric carcinoma cell line SNU-1, each containing a homozygous non-sense mutation at codon 252 and 226 in hMLH1, repectively.
|
9472100 |
1998 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of MLH1 and MSH2 confer constitutional predisposition to the development of colorectal cancer and other neoplasms.
|
9490293 |
1998 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In a search for germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1 in Chinese patients with colorectal cancer we identified a novel missense mutation (V384D) in exon 12 of the hMLH1 gene in 4 out of 26 individuals.
|
9526167 |
1998 |
Colorectal Carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
In this study, we examined MIN and the protein expression pattern of the hMSH2 and hMLH1 by Western blot and immunohistochemistry from 32 sporadic colorectal carcinomas.
|
9542742 |
1998 |
Colorectal Carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer.
|
9559627 |
1998 |