DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Cancer, C1333990

Variant: rs267608078 ×

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:

rs267608078

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.

28195393

2017

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

27064304

2016

dbSNP:

rs267608078

MSH6 ; FBXO11

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:

rs267608078

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.

26787237

2016

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Improving performance of multigene panels for genomic analysis of cancer predisposition.

26845104

2016

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

26318770

2015

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Lynch-like syndrome: characterization and comparison with EPCAM deletion carriers.

25110875

2015

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

26318770

2015

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

25980754

2015

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.

24689082

2014

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry.

25117503

2014

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry.

25117503

2014

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.

25194673

2014

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

Diversity of the clinical presentation of the MMR gene biallelic mutations.

24068316

2014

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

Molecular and clinical characteristics of MSH6 germline variants detected in colorectal cancer patients.

24100870

2013

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

Simplified identification of Lynch syndrome: a prospective, multicenter study.

22480969

2012

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

21642682

2011

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

High-grade brain tumors in siblings with biallelic MSH6 mutations.

21674763

2011

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

High-grade brain tumors in siblings with biallelic MSH6 mutations.

21674763

2011

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

21642682

2011

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.

20007843

2010

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

20487569

2010

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

20487569

2010

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.

20591884

2010

dbSNP:

rs267608078

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

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

20587412

2010