|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
Biomarker
|
group |
CLINGEN |
PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance.
|
20624957 |
2010 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
PMS2 involvement in patients suspected of Lynch syndrome.
|
19132747 |
2009 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Mismatch repair deficiency in phenotypically normal human cells.
|
7632227 |
1995 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Genetic features of Lynch syndrome in the Israeli population.
|
25430799 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.
|
28449805 |
2017 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
Biomarker
|
group |
CLINGEN |
Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.
|
11793442 |
2002 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair.
|
16338176 |
2006 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
Biomarker
|
group |
CTD_human |
Microsatellite instability: an update.
|
25701956 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
|
24362816 |
2014 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
|
26318770 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.
|
22585707 |
2012 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.
|
22692065 |
2013 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Secondary mutation in a coding mononucleotide tract in MSH6 causes loss of immunoexpression of MSH6 in colorectal carcinomas with MLH1/PMS2 deficiency.
|
22918162 |
2013 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
|
26110232 |
2016 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
|
25691505 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
PMS2 monoallelic mutation carriers: the known unknown.
|
25856668 |
2016 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Structure and function of the N-terminal 40 kDa fragment of human PMS2: a monomeric GHL ATPase.
|
11574484 |
2001 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
Biomarker
|
group |
CLINGEN |
Deficient expression of DNA repair enzymes in early progression to sporadic colon cancer.
|
22494821 |
2012 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Variation in the extent of microsatellite instability in human cell lines with defects in different mismatch repair genes.
|
12714694 |
2003 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair.
|
17029773 |
2007 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation.
|
17993636 |
2008 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts.
|
27273229 |
2017 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm.
|
25006859 |
2014 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
|
26895986 |
2016 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.
|
24689082 |
2014 |