×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
Biomarker
CLINGEN
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
27329137 2016
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
Biomarker
CLINGEN
Cancer risks for MLH1 and MSH2 mutation carriers.
23255516 2013
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
Biomarker
CLINGEN
Inherited deleterious mutations in mismatch repair genes MLH1, MSH2 , and MSH6 predispose to hereditary nonpolyposis colorectal cancer .
17101317 2006
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
Biomarker
CLINGEN
Spontaneous intestinal carcinomas and skin neoplasms in Msh2-deficient mice.
8706033 1996
×
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Cancer
1.000
Biomarker
CLINGEN
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.
8261515 1993
×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
0.800
Biomarker
CLINGEN
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.25512458 2015
×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
0.800
Biomarker
CLINGEN
Deficient expression of DNA repair enzymes in early progression to sporadic colon cancer.
22494821 2012
×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
0.800
Biomarker
CLINGEN
PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance.
20624957 2010
×
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Cancer
0.800
Biomarker
CLINGEN
Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding.
18790734 2008
×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
0.800
Biomarker
CLINGEN
We performed PMS2 mutation analysis using long-range polymerase chain reaction and multiplex ligation-dependent probe amplification for 99 probands diagnosed with Lynch syndrome -associated tumors showing isolated loss of PMS2 by immunohistochemistry.
18602922 2008
×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
0.800
Biomarker
CLINGEN
We conclude that PMS2 mutation detection in selected Lynch syndrome and Lynch syndrome -like patients is both feasible and desirable.
16619239 2006
×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
0.800
Biomarker
CLINGEN
Half of hereditary nonpolyposis colon cancer kindreds harbor mutations that inactivate MutLalpha (MLH1*PMS2 heterodimer).
16873062 2006
×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
0.800
Biomarker
CLINGEN
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
×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
0.800
Biomarker
CLINGEN
Mutations in the PMS2 gene can, like mutations in other mismatch repair genes, cause both autosomal dominant HNPCC in adults and an autosomal recessive cancer syndrome in children.
15887124 2005
×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
0.800
Biomarker
CLINGEN
In contrast, the third amino-terminal mutation S93G did not affect the heterodimerization, and the MLH1(S93G)/PMS2 variant was functional in the in vitro MMR assay, given thus the nature of the HNPCC family in question.
11793442 2002
×
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Cancer
0.800
Biomarker
CLINGEN
Six of the families that we studied fulfilled the original Amsterdam criteria; most families with MSH6 , however, were only suspected to have HNPCC .
11709755 2002
×
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Cancer
0.800
Biomarker
CLINGEN
MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer.
11245474 2001
×
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Cancer
0.800
Biomarker
CLINGEN
Four presumably causative MSH6 mutations were detected in the patients (22%) who had suspected HNPCC and MSI-low tumors.
10521294 1999
×
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Cancer
0.800
Biomarker
CLINGEN
This may explain the rarity of MSH6 and absence of MSH3 germline mutations in HNPCC families.
10545954 1999
×
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Cancer
0.800
Biomarker
CLINGEN
Mutation in the mismatch repair gene Msh6 causes cancer susceptibility.
9390556 1997
×
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Cancer
0.800
Biomarker
CLINGEN
Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer .
9354786 1997
×
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Cancer
0.800
Biomarker
CLINGEN
GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells.
7604265 1995
×
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Cancer
0.800
Biomarker
CLINGEN
Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells.
7604264 1995
×
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
0.800
Biomarker
CLINGEN
Mutations of two PMS homologues in hereditary nonpolyposis colon cancer.
8072530 1994
×
Entrez Id: 27030
Gene Symbol: MLH3
MLH3
Hereditary Nonpolyposis Colorectal Cancer
0.700
Biomarker
CLINGEN
Our different biochemical assays yielded no evidence that the eight MLH3 UVs tested are the cause of hereditary colorectal cancer, including Lynch syndrome .
19156873 2009