|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
A case of early onset rectal cancer of Lynch syndrome with a novel deleterious PMS2 mutation.
|
26232782 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts.
|
19039682 |
2009 |
|
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 |
CausalMutation
|
group |
CLINVAR |
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
|
25691505 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.
|
24689082 |
2014 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype.
|
9488480 |
1998 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
|
28874130 |
2017 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.
|
24130102 |
2014 |
|
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 |
An Unusual Case of Constitutional Mismatch Repair Deficiency Syndrome With Anaplastic Ganglioglioma, Colonic Adenocarcinoma, Osteosarcoma, Acute Myeloid Leukemia, and Signs of Neurofibromatosis Type 1: Case Report.
|
25850602 |
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 |
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 |
CausalMutation
|
group |
CLINVAR |
Avoidance of pseudogene interference in the detection of 3' deletions in PMS2.
|
21618646 |
2011 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.
|
18273873 |
2008 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
|
21261604 |
2011 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
|
21261604 |
2011 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
|
20205264 |
2010 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.
|
26437257 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
|
27435373 |
2016 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
|
27435373 |
2016 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?
|
28503822 |
2018 |
|
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 |
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
|
26318770 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
CausalMutation
|
group |
CLINVAR |
Contribution of human mlh1 and pms2 ATPase activities to DNA mismatch repair.
|
11897781 |
2002 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
Biomarker
|
group |
CLINGEN |
Deficient expression of DNA repair enzymes in early progression to sporadic colon cancer.
|
22494821 |
2012 |