Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
MGD |
|
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Inhibition of aldehyde reductase by acidic metabolites of the biogenic amines.
|
16 |
1975 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Secretion of alpha-immunoreactive inhibin by human pre-embryos cultured in vitro.
|
1522200 |
1992 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Protein truncating mutations in the hMLH1 or hMSH2 genes were found in 50% of families with HNPCC (6 of 12) but were not observed in any of the remaining familial aggregations that did not fulfill the standard criteria for HNPCC.
|
7557107 |
1995 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Major advances in the molecular genetics of HNPCC have occurred during the past two years with identification of the hMSH2 gene at chromosome 2p and the hMLH1 gene at chromosome 3p, both of which have been cloned.
|
7571049 |
1995 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
By screening members of Finnish families displaying hereditary nonpolyposis colorectal cancer (HNPCC) for predisposing germline mutations in MSH2 and MLH1, we show that two mutations in MLH1 together account for 63% (19/30) of kindreds meeting international diagnostic criteria.
|
7584997 |
1995 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability.
|
7704024 |
1995 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Hereditary nonpolyposis colorectal carcinoma (HNPCC) is a major cancer susceptibility syndrome known to be caused by inheritance of mutations in genes such as hMSH2 and hMLH1, which encode components of a DNA mismatch repair system.
|
7713503 |
1994 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutation of hMLH1, a gene involved in DNA mismatch repair, is responsible for some families carrying the hereditary non-polypotic colorectal cancer (HNPCC) syndrome.
|
7757073 |
1995 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer.
|
7894494 |
1994 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Of the remaining three families studied for linkage, one showed lod scores compatible with exclusion of both MSH2 and MLH1, while lod scores obtained in the other two families suggested exclusion of one HNPCC locus (MSH2 or MLH1) but were uninformative for markers flanking the other locus.
|
7942843 |
1994 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
Two (mismatch repair) genes (hMSH2 on chromosome 2p and hMLH1 on chromosome 3p) have recently been identified which appear to be involved in the development of cancer in most of the HNPCC families.
|
7979195 |
1994 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
With the development of the International Hereditary Nonpolyposis Colorectal Cancer Collaborative Group, knowledge can be disseminated worldwide about the public health importance of HNPCC and the need to implement highly targeted surveillance and management strategies in all clinical practice settings.
|
7979196 |
1994 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mutations in genes associated with the DNA mismatch repair system were considered to play important roles in predisposition to cancer, since hMSH2 and hMLH1, human homologues of yeast MSH2 and MLH1 as well as bacterial mutS and mutL genes, were found to be involved in hereditary nonpolyposis colorectal cancer (HNPCC).
|
7980603 |
1994 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In particular, hMSH2 and hMLH1 homologues of the bacterial DNA mismatch repair genes mutS and mutL, respectively, were shown to be mutated in a subset of HNPCC cases.
|
8072530 |
1994 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
The localization of an HNPCC gene on chromosome 2 in May 1993 provided formal proof that HNPCC is a single gene (Mendelian) disorder.
|
8074840 |
1994 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
One of these genes (hMLH1) resides on chromosome 3p21, within 1 centimorgan of markers previously linked to cancer susceptibility in HNPCC kindreds.
|
8128251 |
1994 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
We propose that hMLH1 is the HNPCC gene located on 3p because of the similarity of the hMLH1 gene product to the yeast DNA mismatch repair protein, MLH1, the coincident location of the hMLH1 gene and the HNPCC locus on chromosome 3, and hMLH1 missense mutations in affected individuals from a chromosome 3-linked HNPCC family.
|
8145827 |
1994 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
These data and reports indicating that S. cerevisiae msh2 mutations cause an instability of dinucleotide repeats like those associated with HNPCC suggest that hMSH2 is the HNPCC gene.
|
8252616 |
1993 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
Hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome) is an autosomal dominant disease characterized by early-onset intestinal neoplasms, localization of tumors in the proximal colon, and frequent association with cancers at other sites, especially the endometrium, skin, and stomach.
|
8387880 |
1993 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We have used denaturing gradient gel electrophoresis to analyze the 19 exons and exon-intron borders of hMLH1 in 39 Swedish hereditary nonpolyposis colorectal cancer families.
|
8521398 |
1995 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families.
|
8521398 |
1995 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.
|
8566964 |
1996 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Hereditary nonpolyposis colon cancer (HN-PCC) is an autosomally inherited predisposition to cancer that has recently been linked to defects in the human mismatch repair genes hMSH2 and hMLH1.
|
8566964 |
1996 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16.
|
8571956 |
1996 |