From SNPedia
| Geno
|
Mag
|
Summary
|
| (A;A)
|
1.25
|
1.24x increased risk for breast cancer
|
| (A;G)
|
1.1
|
1.12x increased risk for breast cancer
|
| (G;G)
|
0
|
normal
|
| ? | (A;A) (A;G) (G;G) | 28 |
|---|
 |
[
PMID 17529974]
rs13387042(A;A) has an estimated 1.44-fold greater risk of
breast cancer than the GG genotype.
This initial association was later tested among patients in the Breast Cancer Association Consortium, including 31,510 women with invasive breast cancer, 1101 women with ductal carcinoma in situ (DCIS), and 35,969 controls. In Caucasian women of European origin, each A allele is associated with 1.12 higher odds (CI: 1.09-1.15). This association held regardless of ER or PR status. [PMID 19567422]
| GWAS
|
| SNP
|
rs13387042
|
| PubMedID
|
[PMID 17529974]
|
| Condition
|
Breast cancer
|
| Gene
|
Intergenic
|
| Risk Allele
|
A
|
| pValue
|
1.00E-013
|
| OR
|
1.2
|
| 95% CI
|
1.14-1.26
|
| GWAS snp
|
| PMID
|
[PMID 19330030]
|
| Trait
|
Breast cancer
|
| Title
|
A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1)
|
| Risk Allele
|
A
|
| P-val
|
2E-8
|
| Odds Ratio
|
|
[PMID 19656774] Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
| PharmGKB | PA164739883 |
| Name | |
| Annotation | GWAS results: A multistage genome-wide association study in Breast Cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). (Initial Sample Size: 1,145 cases, 1,142 controls; Replication Sample Size: 8,625 cases, 9,657 controls); (Region: 2q35; Reported Gene(s): Intergenic; Risk Allele: rs13387042-A); (p-value= 0.00000002).This variant is associated with Breast Cancer. |
| Gene | - |
| Featue | |
| Evidence | PubMed ID:19330030; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Breast Neoplasms |
| Curation Level | Non-Curated |
[PMID 19789366] Evaluation of 11 breast cancer susceptibility loci in African-American women
| GWAS snp
|
| PMID
|
[PMID 20453838]
|
| Trait
|
Breast cancer
|
| Title
|
Genome-wide association study identifies five new breast cancer susceptibility loci
|
| Risk Allele
|
A
|
| P-val
|
2E-10
|
| Odds Ratio
|
1.21 [1.14-1.29]
|
[PMID 20664043] Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci
| GWAS snp
|
| PMID
|
[PMID 20872241]
|
| Trait
|
|
| Title
|
A combined analysis of genome-wide association studies in breast cancer
|
| Risk Allele
|
|
| P-val
|
0.000009
|
| Odds Ratio
|
1.18 [1.10-1.27]
|
| PharmGKB | PA161925625 |
| Name | |
| Annotation | This variant is significantly associated with risk for breast cancer. Carriers of the A allele had an estimated 1.44-fold greater risk than noncarriers. |
| Gene | - |
| Featue | |
| Evidence | PubMed ID:17529974 |
| Drugs | |
| Diseases | Breast Neoplasms |
| Curation Level | Curated |
| PharmGKB | PA162356627 |
| Name | |
| Annotation | GWAS Results: Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer (Initial Sample Size: 1,599 cases, 11,546 controls; Replication Sample Size: 2,934 cases, 5,967 controls; Risk Allele: rs13387042-A). |
| Gene | - |
| Featue | |
| Evidence | PubMed ID:17529974; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Breast Neoplasms |
| Curation Level | Non-Curated |
| GWAS snp
|
| PMID
|
[PMID 21263130]
|
| Trait
|
|
| Title
|
Novel Breast Cancer Susceptibility Locus at 9q31.2: Results of a Genome-Wide Association Study
|
| Risk Allele
|
A
|
| P-val
|
2E-10
|
| Odds Ratio
|
1.1600 [1.11-1.22]
|
[PMID 21445572] Genetic polymorphisms and breast cancer risk: evidence from meta-analyses, pooled analyses, and genome-wide association studies
[PMID 21475998] Replication of five GWAS-identified loci and breast cancer risk among Hispanic and non-Hispanic white women living in the Southwestern United States
[PMID 21791674] Interactions Between Genetic Variants and Breast Cancer Risk Factors in the Breast and Prostate Cancer Cohort Consortium
[PMID 22087758] Single nucleotide polymorphisms associated with risk for contralateral breast cancer in the Women's Environment, Cancer and Radiation Epidemiology (WECARE) study
[PMID 22287734] Evaluation of Breast Cancer Susceptibility Loci on 2q35, 3p24, 17q23 and FGFR2 Genes in Taiwanese Women with Breast Cancer
