DisGeNET - a database of gene-disease associations

Malignant neoplasm of breast, C0006142

Gene: ESR1 ×

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:

rs139960913

ESR1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs796065354

ESR1

0.760

SusceptibilityMutation

CLINVAR

A hypersensitive estrogen receptor-alpha mutation in premalignant breast lesions.

10945602

2000

dbSNP:

rs188957694

ESR1

0.010

GeneticVariation

BEFREE

The majority of spontaneous and DMBA-induced carcinomas and sarcomas from p53(R270H/+)WAPCre mice is estrogen receptor alpha positive, and expression profiles of genes also implicated in human breast cancer appear similarly altered.

16166291

2005

dbSNP:

rs200960801

ESR1

0.010

GeneticVariation

BEFREE

We investigated three common ESR2 polymorphisms, rs1256049 (G1082A), rs4986938 (G1730A) and rs928554 (Cx+56 A-->G) for association to breast cancer risk.

16261413

2005

dbSNP:

rs796065354

ESR1

0.760

SusceptibilityMutation

CLINVAR

This population-based study, the largest so far to screen for the ER-alpha A908G mutation in breast cancer, confirms the presence of the mutant in invasive breast tumors.

16280033

2005

dbSNP:

rs796065354

ESR1

0.760

GeneticVariation

BEFREE

This population-based study, the largest so far to screen for the ER-alpha A908G mutation in breast cancer, confirms the presence of the mutant in invasive breast tumors.

16280033

2005

dbSNP:

rs1462893414

ESR1

0.020

GeneticVariation

BEFREE

This population-based study, the largest so far to screen for the ER-alpha A908G mutation in breast cancer, confirms the presence of the mutant in invasive breast tumors.

16280033

2005

dbSNP:

rs1364963022

ESR1

0.010

GeneticVariation

BEFREE

There was no statistical difference in the C1qA[276A/G] allelic distribution between all subjects with breast cancer and controls.

16465510

2006

dbSNP:

rs200282497

ESR1

0.010

GeneticVariation

BEFREE

There was no statistical difference in the C1qA[276A/G] allelic distribution between all subjects with breast cancer and controls.

16465510

2006

dbSNP:

rs201145204

ESR1

0.010

GeneticVariation

BEFREE

Among the 378Ser variant allele carriers, the 24Pro/Pro wild-type homozygote was associated with a significantly increased breast cancer risk (adjusted OR=1.81, 95% CI=1.11-2.95), but the subjects having 24Pro/Ser or Ser/Ser variant genotypes had a significantly decreased risk (adjusted OR=0.74, 95% CI=0.56-0.99).

17028982

2007

dbSNP:

rs2234693

ESR1

0.100

GeneticVariation

BEFREE

In this study, we investigated breast cancer risk associated with genotypes and haplotypes resulting from four ESR1 single nucleotide polymorphisms (SNPs), rs746432, rs2234693, rs9340799, and rs1801132.

17268813

2007

dbSNP:

rs9340799

ESR1

0.070

GeneticVariation

BEFREE

17268813

2007

dbSNP:

rs1801132

ESR1

0.060

GeneticVariation

BEFREE

17268813

2007

dbSNP:

rs746432

ESR1

0.010

GeneticVariation

BEFREE

17268813

2007

dbSNP:

rs796065354

ESR1

0.760

SusceptibilityMutation

CLINVAR

Here, we have optimized the detection of a somatic mutation, an A908G transition of ERalpha, and examined its association with clinical and biological features of invasive breast cancer.

17545528

2007

dbSNP:

rs796065354

ESR1

0.760

GeneticVariation

BEFREE

ESR1 A908G mutation-positive breast cancer was significantly associated with a first-degree family history of breast cancer (odds ratio [OR] = 2.69, 95% confidence interval [CI] = 1.15 to 6.28), whereas mutation-negative breast cancer was not.

17553133

2007

dbSNP:

rs796065354

ESR1

0.760

SusceptibilityMutation

CLINVAR

There was also the suggestion that longer duration of oral contraceptive (OC) use (OR = 3.73, 95% CI = 1.16 to 12.03; Ptrend = 0.02 for use of more than 10 years) and recent use of OCs (OR = 3.63, 95% CI = 0.80 to 16.45; Ptrend = 0.10 for use within 10 years) were associated with ESR1 A908G mutation-positive breast cancer; however, ORs for comparison of the two case subgroups were not statistically significant.

17553133

2007

dbSNP:

rs1462893414

ESR1

0.020

GeneticVariation

BEFREE

17553133

2007

dbSNP:

rs2144025

ESR1

0.010

GeneticVariation

BEFREE

A multi-locus analysis of five adjacent tagSNPs suggested a region in ESR1 (between rs3003925 and rs2144025) for association with breast cancer risk (p = 0.001), but the result did not withstand adjustment for multiple comparisons (p = 0.086).

18271972

2008

dbSNP:

rs3003925

ESR1

0.010

GeneticVariation

BEFREE

18271972

2008

dbSNP:

rs796065354

ESR1

0.760

GeneticVariation

BEFREE

Indeed, a breast cancer-associated mutation at K303 (K303R) alters methylation at K302 in vitro and in vivo.

18471979

2008

dbSNP:

rs3798577

ESR1

0.060

GeneticVariation

BEFREE

This study provides evidence that polymorphisms CYP17 rs743572, CYP19 rs10046 and ER-alpha rs3798577 are associated with breast cancer risk among Chinese women.

18629629

2009

dbSNP:

rs3020314

ESR1

0.010

GeneticVariation

BEFREE

SNP rs3020314, tagging a region of ESR1 intron 4, is associated with an increase in breast cancer susceptibility with a dominant mode of action in European populations.

19126777

2009

dbSNP:

rs761843408

ESR1 ; SYNE1

0.010

GeneticVariation

BEFREE

In a large multiethnic case-control study, the G/A870 polymorphism conferred no significant risk for breast cancer overall or by stage or estrogen receptor (ER) status.

19287456

2009

dbSNP:

rs796065354

ESR1

0.760

GeneticVariation

BEFREE

Expression of the K303R estrogen receptor-alpha breast cancer mutation induces resistance to an aromatase inhibitor via addiction to the PI3K/Akt kinase pathway.

19487288

2009