DisGeNET - a database of gene-disease associations

Colorectal cancer, hereditary nonpolyposis, type 1, C2936783

Variant: rs587779067 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

CLINVAR

Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.

26951660

2016

dbSNP:

rs587779067

MSH2

0.800

CausalMutation

CLINVAR

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

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

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

CLINVAR

Integrated analysis of unclassified variants in mismatch repair genes.

21239990

2011

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

CLINVAR

Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

24278394

2013

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

CLINVAR

Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).

18383312

2008

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

UNIPROT

MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system.

18781619

2008

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

UNIPROT

Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer.

10375096

1999

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

UNIPROT

A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.

18561205

2008

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

UNIPROT

Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline.

22167527

2012

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

UNIPROT

Population-based molecular detection of hereditary nonpolyposis colorectal cancer.

10829038

2000

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

UNIPROT

Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes.

15870828

2005

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

UNIPROT

Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.

25452455

2015

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

UNIPROT

Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer.

25003300

2014

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

UNIPROT

Identification of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds.

9419403

1997

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

UNIPROT

Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.

9718327

1998

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

UNIPROT

Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.

12658575

2003

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

UNIPROT

Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists.

23535968

2013

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

UNIPROT

American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.

20065170

2010

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

UNIPROT

Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer.

25070057

2014

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

UNIPROT

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

25394175

2015

dbSNP:

rs587779067

MSH2

0.800

GeneticVariation

UNIPROT

Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation.

11598466

2001