DisGeNET - a database of gene-disease associations

Breast Carcinoma, C0678222

Variant: rs1169803481 ×

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:

rs1169803481

EGFR

0.030

GeneticVariation

BEFREE

In this case control study we aimed to analyze the frequency of HER1 R497K (rs 11543848) and HER2 I655V (rs 1136201) Polymorphisms in breast cancer.

23594562

2013

dbSNP:

rs1169803481

EGFR

0.030

GeneticVariation

BEFREE

The association of HER-2/neu Ile655Val polymorphism and the risk of breast cancer was borderline significant with the heterozygous carrier being at higher risk.

18837888

2008

dbSNP:

rs1169803481

EGFR

0.030

GeneticVariation

BEFREE

Furthermore, they provide clinical evidence that HER-2 Ile655Val SNP does affect serum HER-2 levels and it can be regarded as a predictive biomarker for breast cancer patients with poor prognosis.

18237248

2008