DisGeNET - a database of gene-disease associations

Hereditary Non-Polyposis Colon Cancer Type 2, C1333991

Variant: rs63750206 ×

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:

rs63750206

MLH1

0.800

GeneticVariation

UNIPROT

Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?

11726306

2001

dbSNP:

rs63750206

MLH1

0.800

GeneticVariation

UNIPROT

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.

23408351

2013

dbSNP:

rs63750206

MLH1

0.800

GeneticVariation

UNIPROT

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

11598466

2001

dbSNP:

rs63750206

MLH1

0.800

GeneticVariation

UNIPROT

Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer.

9559627

1998

dbSNP:

rs63750206

MLH1

0.800

GeneticVariation

UNIPROT

Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.

8872463

1996

dbSNP:

rs63750206

MLH1

0.800

CausalMutation

CLINVAR

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.

17510385

2007

dbSNP:

rs63750206

MLH1

0.800

GeneticVariation

UNIPROT

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

20065170

2010

dbSNP:

rs63750206

MLH1

0.800

GeneticVariation

UNIPROT

A human compound heterozygote for two MLH1 missense mutations.

9326924

1997

dbSNP:

rs63750206

MLH1

0.800

GeneticVariation

UNIPROT

Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.

10413423

1999

dbSNP:

rs63750206

MLH1

0.800

CausalMutation

CLINVAR

Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.

16083711

2005

dbSNP:

rs63750206

MLH1

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:

rs63750206

MLH1

0.800

GeneticVariation

UNIPROT

Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.

9311737

1997

dbSNP:

rs63750206

MLH1

0.800

GeneticVariation

UNIPROT

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

25645574

2015

dbSNP:

rs63750206

MLH1

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:

rs63750206

MLH1

0.800

GeneticVariation

UNIPROT

Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. Mutations in brief no. 157. Online.

10627141

1998

dbSNP:

rs63750206

MLH1

0.800

GeneticVariation

UNIPROT

Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16.

8571956

1996

dbSNP:

rs63750206

MLH1

0.800

GeneticVariation

UNIPROT

Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer.

8797773

1996

dbSNP:

rs63750206

MLH1

0.800

GeneticVariation

UNIPROT

Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer.

9833759

1998

dbSNP:

rs63750206

MLH1

0.800

GeneticVariation

UNIPROT

Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.

11793442

2002

dbSNP:

rs63750206

MLH1

0.800

GeneticVariation

UNIPROT

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

23535968

2013

dbSNP:

rs63750206

MLH1

0.800

GeneticVariation

UNIPROT

American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

24493721

2014

dbSNP:

rs63750206

MLH1

0.800

CausalMutation

CLINVAR

dbSNP:

rs63750206

MLH1

0.800

GeneticVariation

UNIPROT

Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.

8993976

1997

dbSNP:

rs63750206

MLH1

0.800

GeneticVariation

UNIPROT

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

23788249

2013

dbSNP:

rs63750206

MLH1

0.800

CausalMutation

CLINVAR

Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis.

15563510

2005