DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Cancer, C1333990

Gene: MLH1 ×

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:

rs63750781

MLH1

0.710

GeneticVariation

BEFREE

We report here novel HNPCC-hMLH1 mutant proteins (T117M, Q426X and 1813insA) in Danish HNPCC patients.

11429708

2001

dbSNP:

rs63750781

MLH1

0.710

CausalMutation

CLINVAR

We report here novel HNPCC-hMLH1 mutant proteins (T117M, Q426X and 1813insA) in Danish HNPCC patients.

11429708

2001

dbSNP:

rs63751194

MLH1

0.710

GeneticVariation

BEFREE

We recommend a screening strategy for the local LS by starting with tumor IHC and the hotspot mutation testing at MLH1 c.793C>T followed by comprehensive mutation scanning in MLH1 and MSH2 prior to proceeding to other MMR genes.

24710284

2014

dbSNP:

rs864622258

MLH1

0.010

GeneticVariation

BEFREE

We herein describe a nucleotide change, c.2063T>G in exon 13 of the MSH2 gene, present in families that fulfill the Amsterdam criteria for Lynch syndrome and originate from northern Tenerife (Canary Islands-Spain).

16500024

2006

dbSNP:

rs63750211

MLH1

0.710

GeneticVariation

BEFREE

We encountered a large Irish Lynch syndrome kindred that carries the c.544A>G (p.Arg182Gly) alteration in the MLH1 gene and we undertook to study the variant.

22773173

2012

dbSNP:

rs1392665848

MLH1

0.010

GeneticVariation

BEFREE

We encountered a large Irish Lynch syndrome kindred that carries the c.544A>G (p.Arg182Gly) alteration in the MLH1 gene and we undertook to study the variant.

22773173

2012

dbSNP:

rs35502531

MLH1

0.030

GeneticVariation

BEFREE

We conclude that MLH1 K618A is not a fully penetrant Lynch syndrome mutation, although it is not without effect, appearing to increase the risk of Lynch syndrome-associated tumors approximately twofold.

22426235

2012

dbSNP:

rs1060504000

MLH1

0.010

GeneticVariation

BEFREE

We aimed to determine the pathogenicity of previously reported variants (c.-28A>G and c.-7C>T) within the MLH1 5'untranslated region (UTR) in two individuals from unrelated suspected Lynch syndrome families.

25762362

2015

dbSNP:

rs1260021106

MLH1

0.010

GeneticVariation

BEFREE

25762362

2015

dbSNP:

rs786201226

MLH1

0.010

GeneticVariation

BEFREE

25762362

2015

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1.

10495924

1999

dbSNP:

rs63750781

MLH1

0.710

CausalMutation

CLINVAR

Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.

18470917

2008

dbSNP:

rs63750978

MLH1

0.700

CausalMutation

CLINVAR

Two novel mutations in hMLH1 gene in Iranian hereditary non-polyposis colorectal cancer patients.

21901500

2012

dbSNP:

rs267607786

MLH1

0.700

CausalMutation

CLINVAR

Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining.

16216036

2005

dbSNP:

rs63749795

MLH1

0.700

CausalMutation

CLINVAR

Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining.

16216036

2005

dbSNP:

rs63750603

MLH1

0.700

CausalMutation

CLINVAR

Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining.

16216036

2005

dbSNP:

rs63750781

MLH1

0.710

CausalMutation

CLINVAR

Transient mismatch repair gene transfection for functional analysis of genetic hMLH1 and hMSH2 variants.

12377806

2002

dbSNP:

rs1799977

MLH1

0.020

GeneticVariation

BEFREE

To evaluate the mutL homolog 1 (MLH1) I219V polymorphism in 124 unrelated South American individuals suspected of having Lynch syndrome, based on frequency, association with pathogenic MLH1 and mutS homolog 2 (MSH2) mutation and clinical features.

23060557

2012

dbSNP:

rs63750710

MLH1

0.710

GeneticVariation

BEFREE

Thus, the H329P mutation present in the germline can be considered as having an aetiological role in this HNPCC family.

9272156

1997

dbSNP:

rs41295284

MLH1

0.010

GeneticVariation

BEFREE

This outcome could explain the HNPCC familial cancers that present as microsatellite stable and with intact MMR, such as MLH(L607H).

20978114

2010

dbSNP:

rs63750693

MLH1

0.710

GeneticVariation

BEFREE

The variants c.306+5G>A and c.1865T>A (p.Leu622His) of the DNA repair gene MLH1 occur frequently in Spanish Lynch syndrome families.

20858721

2010

dbSNP:

rs63750781

MLH1

0.710

CausalMutation

CLINVAR

The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome.

17192056

2006

dbSNP:

rs267607767

MLH1

0.700

CausalMutation

CLINVAR

The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome.

17192056

2006

dbSNP:

rs63750791

MLH1

0.010

GeneticVariation

BEFREE

The silent mutation MLH1 c.543C>T resulting in aberrant splicing can cause Lynch syndrome: a case report.

28334867

2017

dbSNP:

rs35045067

MLH1

0.010

GeneticVariation

BEFREE

The pathogenicity of the K618A and Y646C mutations was questionable as their correlation with features typical of HNPCC was low and the outcome of the functional analysis was ambiguous.

16724012

2006