DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Gene: PMS2 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

GeneticVariation

group

CLINVAR

Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?

28503822

2018

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

CausalMutation

group

CLINVAR

A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.

28528518

2018

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

CausalMutation

group

CLINVAR

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

28466842

2017

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

CausalMutation

group

CLINVAR

Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.

28514183

2017

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

GeneticVariation

group

CLINVAR

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.

27978560

2017

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

CausalMutation

group

CLINVAR

A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency.

28286799

2017

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

GeneticVariation

group

CLINVAR

Practical guidance for mismatch repair-deficiency testing in endometrial cancer.

27742654

2017

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

CausalMutation

group

CLINVAR

Lost in translation: returning germline genetic results in genome-scale cancer research.

28454591

2017

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

CausalMutation

group

CLINVAR

Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts.

27273229

2017

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

CausalMutation

group

CLINVAR

Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.

28125078

2017

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

GeneticVariation

group

CLINVAR

Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.

28514183

2017

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

CausalMutation

group

CLINVAR

In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation.

28765196

2017

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

CausalMutation

group

CLINVAR

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

28874130

2017

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

CausalMutation

group

CLINVAR

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

28152038

2017

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

CausalMutation

group

CLINVAR

Practical guidance for mismatch repair-deficiency testing in endometrial cancer.

27742654

2017

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

GeneticVariation

group

CLINVAR

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

28466842

2017

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

GeneticVariation

group

CLINVAR

Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.

28365877

2017

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

CausalMutation

group

CLINVAR

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

27694994

2016

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

CausalMutation

group

CLINVAR

Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

27433846

2016

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

CausalMutation

group

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

0.110

CausalMutation

group

CLINVAR

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

27476653

2016

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

GeneticVariation

group

CLINVAR

PMS2 monoallelic mutation carriers: the known unknown.

25856668

2016

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

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

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

CausalMutation

group

CLINVAR

Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan.

27589204

2016

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

0.110

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