Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Despite the negative results of the study, it doesn't exclude the possibility of Lynch syndrome for 100%, and its presence may be caused by the mutations of other genes (PMS1, PMS2 and MLH3), responsible for DNA repair.
|
28214212 |
2017 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
BEFREE |
Since the discovery of the major human genes with DNA mismatch repair function, mutations in five of them have been correlated with susceptibility to Lynch syndrome: mutS homolog 2 (MSH2); mutL homolog 1 (MLH1); mutS homolog 6 (MSH6); postmeiotic segregation increased 2 (PMS2); and postmeiotic segregation increased 1 (PMS1).
|
19466295 |
2009 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
BEFREE |
Two additional MMR genes, MLH3 and PMS1, have also been proposed to play a role in Lynch syndrome predisposition, but the clinical significance of mutations in these genes is less clear.
|
16136382 |
2005 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
BEFREE |
Probands from 21 kindreds were classified as HNPCC (3), HNPCC-like (5), and HNPCC-variant (13); seen and followed by Clinical Genetics at Memorial Hospital the kindreds were assessed for the occurrence of NHL or HD.
|
12400605 |
2002 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this study, 84 HNPCC and HNPCC-like kindreds without known mutations in the other three known DNA mismatch repair genes were screened for germline mutations in the hPMS1 or hPMS2 gene.
|
11691795 |
2001 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Functional redundancy among Mlh3, Pms1 and Pms2 may explain why neither Pms1 nor Pms2 mutant mice develop colon cancer, and why PMS1 and PMS2 mutations are only rarely found in HNPCC families.
|
10615123 |
2000 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hereditary nonpolyposis colon cancer (HNPCC) has been shown to be caused by mutations in the mismatch repair genes hMSH2, hMLH1, hPMS1, and hPMS2.
|
10712226 |
2000 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
BEFREE |
To evaluate the respective involvement of the various MMR genes in typical and incomplete HNPCC syndromes, we have performed an analysis of the hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in a large series of French kindreds (n=75) with colorectal tumors and/or aggregation of extracolonic cancers belonging to the HNPCC spectrum.
|
10480359 |
1999 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
BEFREE |
Germline mutations in five mismatch repair related genes (hMSH2, hMLH1, hMSH6, hPMS1, and hPMS2) cause hereditary nonpolyposis colorectal cancer and are associated with increased risk of somatic genetic alterations and high DNA microsatellite instability.
|
10630180 |
1999 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Prior to the discovery in 1993 and 1994 of genes (hMSH2, hMLH1, hPMS1, hPMS2) known as mis-match repair genes or mutator genes, the diagnosis of HNPCC rested exclusively upon evaluation of clinical findings in concert with a well-documented and extended pedigree.
|
9499183 |
1998 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
BEFREE |
Germ-line mutations in DNA mismatch-repair genes (MSH2, MLH1, PMS1, PMS2, and MSH6) cause susceptibility to hereditary nonpolyposis colorectal cancer.
|
9709044 |
1998 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Although we searched for mutations in the hPMS1 promoter region in HNPCC kindreds, neither germline nor somatic mutations were detected.
|
9500994 |
1998 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
BEFREE |
Study findings suggest that DNA mismatch repair deficiency, due to germline mutation of the hMSH2, hMLH1, hPMS1, or hPMS2 genes, contributes to development of hereditary nonpolyposis colorectal cancer.
|
9438104 |
1998 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
BEFREE |
To date, at least four genes involved in DNA mismatch repair, hMSH2, hMLH1, hPMS1 and hPMS2, have been demonstrated to be altered in the germline of patients with hereditary nonpolyposis colorectal cancer (HNPCC).
|
8872463 |
1996 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hereditary nonpolyposis colorectal cancer (HNPCC) is a major cancer susceptibility syndrome known to be caused by the inheritance of mutations in DNA mismatch repair genes, such as hMSH2, hMLH1, hPMS1 and hPMS2.
|
8613431 |
1996 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
BEFREE |
Inherited mutations in at least four DNA mismatch repair genes, hMSH2, hMLH1, hPMS1, and hPMS2, are known to cause HNPCC.
|
8571956 |
1996 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
BEFREE |
Germline mutations in four human mismatch repair genes (MSH2, MLH1, PMS1, and PMS2) have been reported to cause hereditary non-polyposis colon cancer syndrome (HNPCC).
|
8880570 |
1996 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
BEFREE |
The recent isolation of the DNA mismatch repair genes (hMSH2, hMLH1, hPMS1, and hPMS2) responsible for HNPCC has allowed the search for germ-line mutations in affected individuals.
|
7726159 |
1995 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
BEFREE |
PMS1 at chromosome 2p and PMS2 2 at chromosome 7q have also been implicated in HNPCC's etiology.
|
7571049 |
1995 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Both hPMS1 and hPMS2 were found to be mutated in the germline of HNPCC patients.
|
8072530 |
1994 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
ORPHANET |
|
|
|