|
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 |
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 |
GeneticVariation
|
group |
CLINVAR |
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
|
26318770 |
2015 |
|
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 |
GeneticVariation
|
group |
CLINVAR |
The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair.
|
17029773 |
2007 |
|
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 |
GeneticVariation
|
group |
CLINVAR |
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
|
24027009 |
2013 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
LHGDN |
Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome.
|
17653898 |
2007 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
LHGDN |
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
|
18602922 |
2008 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
|
28514183 |
2017 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
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 |
GeneticVariation
|
group |
CLINVAR |
DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.
|
28640387 |
2017 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.
|
28365877 |
2017 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.
|
20176959 |
2010 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
LHGDN |
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).
|
16472587 |
2006 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
[Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].
|
26691941 |
2016 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.
|
20533529 |
2010 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.640 |
GeneticVariation
|
group |
CLINVAR |
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
|
27476653 |
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 |
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
|
18602922 |
2008 |
|
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 |
GeneticVariation
|
group |
CLINVAR |
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
|
23709753 |
2013 |