DisGeNET - a database of gene-disease associations

Hereditary Diffuse Gastric Cancer, C1708349

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:

rs757422353

CDH1

0.010

GeneticVariation

BEFREE

Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature.

30306390

2019

dbSNP:

rs876658146

CDH1

0.010

GeneticVariation

BEFREE

Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature.

30306390

2019

dbSNP:

rs33935154

CDH1

0.010

GeneticVariation

BEFREE

In this family, the mutation c.1849G>A in the CDH1 gene is not related to HDGC nor ILC.

25981591

2015

dbSNP:

rs141787524

MAP3K6

0.010

GeneticVariation

BEFREE

Screening of an additional 115 unrelated individuals with non-CDH1 FGC identified the p.P946L MAP3K6 variant, as well as four additional coding variants in MAP3K6 (p.F849Sfs*142, p.P958T, p.D200Y and p.V207G).

25340522

2014

dbSNP:

rs749591910

CDH1

0.010

GeneticVariation

BEFREE

Both results (functional and clinical) support the conclusion that the CDH1 c.48 G>C (Q16H) variant contributes to HDGC through the generation of a pathogenic missense mutation with loss of anti-invasive function.

25771876

2014

dbSNP:

rs63750447

MLH1

0.010

GeneticVariation

BEFREE

Our results as following, the T1151A detection rate was remarkably higher in patients with familial gastric cancer or suspected familial gastric cancer compared to normal control patients (P < 0.05).

20177793

2011

dbSNP:

rs587782359

CDH1

0.010

GeneticVariation

BEFREE

A new germline missense mutation (P373L) was recently identified in a HDGC Italian family.

17434710

2007

dbSNP:

rs919875624

DSG2 ; DSG2-AS1

0.010

GeneticVariation

BEFREE

One germline missense variant leading to a non-conservative amino acid change (c. 2810 C > A, Thr 937 Asn) was found in a familial gastric cancer patient with a diffuse type tumour.No somatic mutations were identified.

16025435

2005

dbSNP:

rs876659384

TP53

0.010

GeneticVariation

BEFREE

We identified a nonsense (E287X) TP53 germline mutation in a family whose history is compatible with both HDGC and LFS.

15368100

2004

dbSNP:

rs587780537

CDH1

0.700

CausalMutation

CLINVAR

Novel Variants and Copy Number Variation in CDH1 Gene in Iranian Patients with Sporadic Diffuse Gastric Cancer.

29577179

2019

dbSNP:

rs876658865

CDH1

0.700

CausalMutation

CLINVAR

Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC).

30745422

2019

dbSNP:

rs1555518221

CDH1

0.700

GeneticVariation

CLINVAR

A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay.

29798843

2018

dbSNP:

rs587776398

CDH1

0.700

CausalMutation

CLINVAR

Next generation sequencing-based emerging trends in molecular biology of gastric cancer.

29511593

2018

dbSNP:

rs786203576

CDH1

0.700

CausalMutation

CLINVAR

Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status.

28688938

2018

dbSNP:

rs876660771

CDH1

0.700

GeneticVariation

CLINVAR

Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing.

30264118

2018

dbSNP:

rs1555509622

CDH1

0.700

CausalMutation

CLINVAR

Next-generation sequencing in familial breast cancer patients from Lebanon.

28202063

2017

dbSNP:

rs1555509623

CDH1

0.700

CausalMutation

CLINVAR

Next-generation sequencing in familial breast cancer patients from Lebanon.

28202063

2017

dbSNP:

rs1555509623

CDH1

0.700

CausalMutation

CLINVAR

Next-generation sequencing in familial breast cancer patients from Lebanon.

28202063

2017

dbSNP:

rs587780537

CDH1

0.700

CausalMutation

CLINVAR

Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.

28873162

2017

dbSNP:

rs876658575

CDH1

0.700

CausalMutation

CLINVAR

Somatic mutations in CDH1 and CTNNB1 in primary carcinomas at 13 anatomic sites.

29156750

2017

dbSNP:

rs876660771

CDH1

0.700

GeneticVariation

CLINVAR

A Life Potentially Saved Through Hereditary Cancer Panel Testing.

28195815

2017

dbSNP:

rs878854691

CDH1

0.700

CausalMutation

CLINVAR

Next-generation sequencing in familial breast cancer patients from Lebanon.

28202063

2017

dbSNP:

rs1064795267

CDH1

0.700

CausalMutation

CLINVAR

Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer.

27064202

2016

dbSNP:

rs1064795267

CDH1

0.700

CausalMutation

CLINVAR

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

27153395

2016

dbSNP:

rs267606712

CDH1

0.700

GeneticVariation

CLINVAR

Presented Abstracts from the Thirty Fifth Annual Education Conference of the National Society of Genetic Counselors (Seattle, WA, September 2016).

27730413

2016