Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Increasing recognition of the statistical burden posed by HNPCC (5 to 6 percent of all colorectal cancer) mandates that physicians have a better understanding of the genetics, natural history, and distinction between the hereditary site-specific variant (Lynch syndrome I) and the Cancer Family Syndrome (Lynch syndrome II).
|
3366037 |
1988 |
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells.
|
7604264 |
1995 |
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells.
|
7604265 |
1995 |
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Mutation in the mismatch repair gene Msh6 causes cancer susceptibility.
|
9390556 |
1997 |
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer.
|
9354786 |
1997 |
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer.
|
9354786 |
1997 |
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.
|
10521294 |
1999 |
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions.
|
10545954 |
1999 |
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer.
|
11245474 |
2001 |
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
A role for MLH3 in hereditary nonpolyposis colorectal cancer.
|
11586295 |
2001 |
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.
|
11709755 |
2002 |
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
These MSH6 families, despite their late age of onset, have a high lifetime risk of all Lynch syndrome-related cancers, significantly higher in women (89% by age 80) than in men (69%).
|
16283884 |
2005 |
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Germ-line mutations in the mismatch-repair genes MLH1, MSH2, MSH6, and PMS2 lead to the development of the Lynch syndrome (hereditary nonpolyposis colorectal cancer), conferring a strong susceptibility to cancer.
|
15872200 |
2005 |
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Most recently, MYH-associated polyposis (MAP) and an "atypical Lynch syndrome" related to the presence of MSH6 mutations have been linked to an increased risk of CRC.
|
17920897 |
2007 |
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Families suspected of Lynch syndrome (n = 614) were analysed for microsatellite instability, MLH1 promoter methylation and/or germline mutations in MLH1, MSH2, MSH6, and PMS2.
|
17453009 |
2007 |
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Lack of DNA mismatch repair protein MSH6 in the rat results in hereditary non-polyposis colorectal cancer-like tumorigenesis.
|
18417481 |
2008 |
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Lynch syndrome is the predisposition to visceral malignancies that are associated with deleterious germline mutations in DNA mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2.
|
18270343 |
2008 |
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Heterozygous germline mutations in mismatch repair (MMR) genes MLH1, PMS2, MSH2, and MSH6 cause Lynch syndrome.
|
17851451 |
2008 |
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1.
|
18176851 |
2008 |
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The aim of the present study was to evaluate the contribution of MSH6 gene mutations in families that were analysed for Lynch syndrome in a diagnostic setting.
|
18625694 |
2008 |
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Lynch syndrome is primarily due to germline mutations in one of the DNA MMR genes; mainly hMLH1 or hMSH2 and less frequently hMSH6 and rarely hPMS2.
|
17942460 |
2008 |
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding.
|
18790734 |
2008 |
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Lynch syndrome (hereditary non-polyposis colorectal cancer) is an inherited disease caused by germ-line mutation in mismatch repair genes such as MLH1, MSH2, and MSH6.
|
19685281 |
2009 |
Lynch Syndrome
|
0.700 |
GeneticVariation
|
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 |
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.
|
18566915 |
2009 |