DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 ×

Gene: MSH6 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs878853702

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.

27443514

2016

dbSNP:

rs876661222

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

CATTA

0.700

GeneticVariation

CLINVAR

dbSNP:

rs876660943

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

GeneticVariation

CLINVAR

dbSNP:

rs864622153

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

GeneticVariation

CLINVAR

dbSNP:

rs786201084

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

dbSNP:

rs786201050

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

GeneticVariation

CLINVAR

Population-based molecular screening for Lynch syndrome: implications for personalized medicine.

23733757

2013

dbSNP:

rs786201050

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

GeneticVariation

CLINVAR

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

28944238

2017

dbSNP:

rs786201042

MSH6

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

GeneticVariation

CLINVAR

dbSNP:

rs786201042

MSH6

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.

25318681

2015

dbSNP:

rs777159874

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

dbSNP:

rs730881827

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

26681312

2016

dbSNP:

rs730881816

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

26681312

2016

dbSNP:

rs63751407

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

dbSNP:

rs63751327

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.

18301448

2008

dbSNP:

rs63751327

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

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

17453009

2007

dbSNP:

rs63751327

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.

20587412

2010

dbSNP:

rs63751319

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

GeneticVariation

CLINVAR

Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.

16807412

2006

dbSNP:

rs63751319

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

GeneticVariation

CLINVAR

Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts.

18269114

2008

dbSNP:

rs63751234

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

dbSNP:

rs63751017

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

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

dbSNP:

rs63751017

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.

23047549

2012

dbSNP:

rs63750955

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

dbSNP:

rs63750909

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.

15236168

2004

dbSNP:

rs63750909

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function.

21836479

2011

dbSNP:

rs63750741

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.

23621914

2013