{{Rsnum
|rsid=13387042
|Chromosome=2
|position=217041109
|Orientation=plus
|GMAF=0.4481
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 31.9 | 48.7 | 19.5
| HCB | 2.2 | 19.0 | 78.8
| JPT | 1.8 | 16.8 | 81.4
| YRI | 59.9 | 36.1 | 4.1
| ASW | 50.9 | 47.4 | 1.8
| CHB | 2.2 | 19.0 | 78.8
| CHD | 0.0 | 27.5 | 72.5
| GIH | 31.7 | 44.6 | 23.8
| LWK | 65.5 | 31.8 | 2.7
| MEX | 17.2 | 37.9 | 44.8
| MKK | 53.8 | 39.1 | 7.1
| TSI | 22.5 | 44.1 | 33.3
| HapMapRevision=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|OA=1
}}

{{GWAS Summary
|SNP=rs13387042
|PubMedID=17529974
|Condition=Breast cancer
|Gene=Intergenic
|Risk Allele=A
|pValue=1.00E-013
|OR=1.2
|95CI=1.14-1.26
}}

{{PMID Auto GWAS
|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)
|RiskAllele=A
|Pval=2E-8
|OA=1
}}

{{omim
|desc=BREAST CANCER
|id=114480
|rsnum=13387042
}}
{{PMID Auto
|PMID=19656774
|Title=Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
|OA=1
}}

{{PharmGKB
|RSID=rs13387042
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:19330030; Web Resource:http://www.genome.gov/gwastudies/
|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.
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164739883
}}

{{PMID Auto
|PMID=19789366
|Title=Evaluation of 11 breast cancer susceptibility loci in African-American women
|OA=1
}}

{{PMID Auto GWAS
|PMID=20453838
|Trait=Breast cancer
|Title=Genome-wide association study identifies five new breast cancer susceptibility loci
|RiskAllele=A
|Pval=2E-10
|OR=1.21
|ORtxt=[1.14-1.29]
|OA=1
}}
{{PMID Auto
|PMID=20664043
|Title=Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci
}}
{{PMID Auto GWAS
|PMID=20872241
|Trait=None
|Title=A combined analysis of genome-wide association studies in breast cancer
|RiskAllele=
|Pval=0.000009
|OR=1.18
|ORtxt=[1.10-1.27]
}}

{{omim
|desc=BRCA2 GENE; BRCA2
|id=600185
|rsnum=13387042
}}

{{PharmGKB
|RSID=rs13387042
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:17529974
|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.
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA161925625
}}

{{PharmGKB
|RSID=rs13387042
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:17529974; Web Resource:http://www.genome.gov/gwastudies/
|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).
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356627
}}

{{PMID Auto GWAS
|PMID=21263130
|Trait=None
|Title=Novel Breast Cancer Susceptibility Locus at 9q31.2: Results of a Genome-Wide Association Study
|RiskAllele=A
|Pval=2E-10
|OR=1.1600
|ORtxt=[1.11-1.22]
}}

{{PMID Auto
|PMID=21445572
|Title=Genetic polymorphisms and breast cancer risk: evidence from meta-analyses, pooled analyses, and genome-wide association studies
}}

{{PMID Auto
|PMID=21475998
|Title=Replication of five GWAS-identified loci and breast cancer risk among Hispanic and non-Hispanic white women living in the Southwestern United States
|OA=1
}}

{{PMID Auto
|PMID=21791674
|Title=Interactions Between Genetic Variants and Breast Cancer Risk Factors in the Breast and Prostate Cancer Cohort Consortium
|OA=1
}}

{{PMID Auto
|PMID=22087758
|Title=Single nucleotide polymorphisms associated with risk for contralateral breast cancer in the Women's Environment, Cancer and Radiation Epidemiology (WECARE) study
|OA=1
}}

{{PMID Auto
|PMID=22287734
|Title=Evaluation of Breast Cancer Susceptibility Loci on 2q35, 3p24, 17q23 and FGFR2 Genes in Taiwanese Women with Breast Cancer
}}

{{PMID Auto
|PMID=18612136
|Title=Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18772892
|Title=Can genes for mammographic density inform cancer aetiology?
|OA=1
}}

{{PMID Auto
|PMID=18785201
|Title=Novel breast cancer risk alleles and endometrial cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18973230
|Title=Breast cancer susceptibility alleles and ovarian cancer risk in 2 study populations.
|OA=1
}}

{{PMID Auto
|PMID=19088016
|Title=Genetic susceptibility loci for breast cancer by estrogen receptor status.
|OA=1
}}

{{PMID Auto
|PMID=19232126
|Title=Association between breast cancer susceptibility loci and mammographic density: the Multiethnic Cohort.
|OA=1
}}

{{PMID Auto
|PMID=19843326
|Title=Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers.
|OA=1
}}

{{PMID Auto
|PMID=19931039
|Title=Using lifetime risk estimates in personal genomic profiles: estimation of uncertainty.
|OA=1
}}

{{PMID Auto
|PMID=20085711
|Title=Leveraging genetic variability across populations for the identification of causal variants.
|OA=1
}}

{{PMID Auto
|PMID=20146796
|Title=Familial relative risks for breast cancer by pathological subtype: a population-based cohort study.
|OA=1
}}

{{PMID Auto
|PMID=20237344
|Title=Performance of common genetic variants in breast-cancer risk models.
|OA=1
}}

{{PMID Auto
|PMID=20605201
|Title=Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study.
|OA=1
}}

{{PMID Auto
|PMID=21596841
|Title=Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium.
|OA=1
}}

{{PMID Auto
|PMID=22045194
|Title=Combined effect of low-penetrant SNPs on breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=22532573
|Title=The role of genetic breast cancer susceptibility variants as prognostic factors.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs13387042
|overall_frequency_n=51
|overall_frequency_d=128
|overall_frequency=0.398438
|n_genomes=29
|n_genomes_annotated=0
|n_haplomes=42
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=22269215
|Title=Breast cancer risk assessment with five independent genetic variants and two risk factors in Chinese women
|OA=1
}}

{{PMID Auto GWAS
  |PMID=23535729
  |Trait=Breast cancer
  |Title=Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
  |RiskAllele=A
  |Pval=2E-57
  |OR=1.14
  |ORtxt=[1.11-1.16]
  |OA=1
}}

{{PMID Auto
|PMID=22910930
|Title=Genome-Wide Association Studies (GWAS) breast cancer susceptibility loci in Arabs: susceptibility and prognostic implications in Tunisians.
|OA=1
}}

{{PMID Auto
|PMID=23354978
|Title=Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation.
}}

{{PMID Auto
|PMID=23563089
|Title=Genetic ancestry modifies the association between genetic risk variants and breast cancer risk among Hispanic and non-Hispanic white women.
}}

{{PMID Auto
|PMID=23577780
|Title=Associations between single-nucleotide polymorphisms and epidural ropivacaine consumption in patients undergoing breast cancer surgery.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}