DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Cancer, C1333990

Variant: rs587779075 ×

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:

rs587779075

MSH2

0.700

CausalMutation

CLINVAR

Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer.

22883484

2013

dbSNP:

rs587779075

MSH2

0.700

CausalMutation

CLINVAR

Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry.

20215533

2010

dbSNP:

rs587779075

MSH2

0.700

CausalMutation

CLINVAR

High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.

19459153

2009

dbSNP:

rs587779075

MSH2

0.700

CausalMutation

CLINVAR

Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.

18566915

2009

dbSNP:

rs587779075

MSH2

0.700

CausalMutation

CLINVAR

Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.

19698169

2009

dbSNP:

rs587779075

MSH2

0.700

CausalMutation

CLINVAR

Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

17453009

2007

dbSNP:

rs587779075

MSH2

0.700

CausalMutation

CLINVAR

Spectrum of molecular alterations in colorectal, upper urinary tract, endocervical, and renal carcinomas arising in a patient with hereditary non-polyposis colorectal cancer.

16639607

2006

dbSNP:

rs587779075

MSH2

0.700

CausalMutation

CLINVAR

Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.

15855432

2005

dbSNP:

rs587779075

MSH2

0.700

CausalMutation

CLINVAR

Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.

15713769

2005

dbSNP:

rs587779075

MSH2

0.700

CausalMutation

CLINVAR

Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.

15849733

2005

dbSNP:

rs587779075

MSH2

0.700

CausalMutation

CLINVAR

A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.

15235030

2004

dbSNP:

rs587779075

MSH2

0.700

CausalMutation

CLINVAR

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:

rs587779075

MSH2

0.700

CausalMutation

CLINVAR

Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain.

11920650

2002

dbSNP:

rs587779075

MSH2

0.700

CausalMutation

CLINVAR

Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium.

10196371

1999

dbSNP:

rs587779075

MSH2

0.700

CausalMutation

CLINVAR

Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if the Amsterdam criteria are not fulfilled.

9052445

1997