×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.
27696107
2017
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
CLINVAR
DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.
28640387
2017
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
CLINVAR
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
26681312
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
26681312
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.
26898890
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Improving performance of multigene panels for genomic analysis of cancer predisposition.
26845104
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
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
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
CLINVAR
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
27435373
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
26110232
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan.
27589204
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
PMS2 monoallelic mutation carriers: the known unknown.
25856668
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
CLINVAR
Improving performance of multigene panels for genomic analysis of cancer predisposition.
26845104
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
CLINVAR
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
25637381
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
CLINVAR
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.
26247049
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
CLINVAR
Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.
25477341
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
25980754
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
CLINVAR
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.
25559809
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.
26247049
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
CLINVAR
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.
25512458
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
Biomarker
disease
GENOMICS_ENGLAND
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
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
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
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
24763289
2014
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Recurrent and founder mutations in the PMS2 gene.
22577899
2013