{{Rsnum
|rsid=3803662
|Gene=LOC643714
|Chromosome=16
|position=52552429
|Orientation=minus
|ReferenceAllele=T
|GMAF=0.4578
|Gene_s=PLSCR3
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 57.5 | 35.4 | 7.1
| HCB | 15.3 | 38.7 | 46.0
| JPT | 19.5 | 46.0 | 34.5
| YRI | 21.4 | 48.3 | 30.3
| ASW | 19.3 | 54.4 | 26.3
| CHB | 15.3 | 38.7 | 46.0
| CHD | 13.9 | 45.4 | 40.7
| GIH | 54.5 | 36.6 | 8.9
| LWK | 20.0 | 49.1 | 30.9
| MEX | 36.2 | 46.6 | 17.2
| MKK | 19.9 | 50.0 | 30.1
| TSI | 45.1 | 47.1 | 7.8
| HapMapRevision=28
}}
[[rs3803662]], a SNP associated with the [[TNRC9]] gene, was one of the four strongest associating SNPs found in a genome-wide association study of over 4,000 [[breast cancer]] samples.{{PMID|17529967|OA=1
}}

{{PMID|17529974}} [[rs3803662]](T;T) have a 1.64-fold greater risk of estrogen receptor-positive tumors

In a study of 1,267 [[breast cancer]] patients, [[rs3803662]] heterozygote carriers and minor allele homozygote carriers were more likely to be diagnosed before the age of 60 years (p = 0.025) relative to major allele homozygote carriers.{{PMID|17997823|OA=1
}}

{{PMID|18437204|OA=1
}} [[breast cancer]]
*[[rs2981582]], [[rs3803662]], and [[rs889312]]) showed weak but significant associations with ER-negative disease, the strongest association being for rs3803662 in TNRC9 (1.14 (1.09-1.21))

{{PMID|19005751}} [[rs3803662]] confirmed in 988 sporadic breast cancer cases and 1,016 controls from the West of Ireland to be associated with increased risk (odds ratio 1.15, p(allelic) = 5.1 x 10e-2) for [[breast cancer]]

{{GWAS Summary
|SNP=rs3803662
|PubMedID=17529974
|Condition=Breast cancer
|Gene=TNRC9
|Risk Allele=T
|pValue=6.00E-019
|OR=1.28
|95CI=1.21-1.35
}}

{{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=T
|Pval=1E-9
|OA=1
}}

{{omim
|desc=BREAST CANCER
|id=114480
|rsnum=3803662
}}

{{omim
|desc=BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1
|id=604370
|rsnum=3803662
}}

{{omim
|desc=TOX HIGH MOBILITY GROUP BOX FAMILY MEMBER 3; TOX3
|id=611416
|rsnum=3803662
}}

{{PharmGKB
|RSID=rs3803662
|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: 16q12.1; Reported Gene(s): TOX3; Risk Allele: rs3803662-T); (p-value= 0.000000001).This variant is associated with Breast Cancer.
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164739881
}}

{{PMID Auto
|PMID=20406955
|Title=Polymorphisms in the TOX3/LOC643714 Locus and Risk of Breast Cancer 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=3E-15
|OR=1.30
|ORtxt=[1.22-1.39]
|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
|PMID=20054709
|Title=Birth weight, breast cancer susceptibility loci, and breast cancer risk
}}
{{PMID Auto
|PMID=20699374
|Title=Evaluation of Breast Cancer Susceptibility Loci in Chinese Women
|OA=1
}}
{{PMID Auto
|PMID=20703937
|Title=Association between polymorphisms of trinucleotide repeat containing 9 gene and breast cancer risk: evidence from 62,005 subjects
}}
{{PMID Auto GWAS
|PMID=20872241
|Trait=None
|Title=A combined analysis of genome-wide association studies in breast cancer
|RiskAllele=A
|Pval=4E-7
|OR=1.22
|ORtxt=[1.13-1.32]
}}

{{PharmGKB
|RSID=rs3803662
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:17529967; PubMed ID:17529974; PubMed ID:17997823
|Annotation=This variant is significantly associated with risk for breast cancer from multiple large scale genome wide association studies. Carriers of the T allele had a 1.64-fold greater risk of estrogen receptor-positive breast cancer and were more likely to be diagnosed before the age of 60 years.
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA161925624
}}

{{PharmGKB
|RSID=rs3803662
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:18355772
|Annotation=The minor allele of this SNP has been associated with increased risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA161615667
}}

{{PharmGKB
|RSID=rs3803662
|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: rs3803662-T).
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356628
}}

{{PharmGKB
|RSID=rs3803662
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:17529967; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Genome-wide association study identifies novel breast cancer susceptibility loci (Initial Sample Size: 390 cases, 364 controls; Replication Sample Size: 26,646 cases, 24,889 controls; Risk Allele: rs3803662-C).
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356623
}}
{{PMID Auto
|PMID=21197568
|Title=Risk of genome-wide association study newly identified genetic variants for breast cancer in Chinese women of Heilongjiang Province
}}

{{PMID Auto
|PMID=21415360
|Title=Common genetic variants associated with breast cancer in Korean women and differential susceptibility according to intrinsic subtype
}}

{{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=21748294
|Title=Correlation of breast cancer susceptibility loci with patient characteristics, metastasis-free survival, and mRNA expression of the nearest genes
}}

{{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=21795501
|Title=Replication of breast cancer GWAS susceptibility loci in the Women's Health Initiative African American SHARe study
|OA=1
}}

{{PMID Auto
|PMID=21996731
|Title=Breast cancer genome-wide association studies: there is strength in numbers
}}

{{PMID Auto
|PMID=22452962
|Title=A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study
|OA=1
}}

{{PMID Auto
|PMID=18326623
|Title=Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33.
|OA=1
}}

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

{{PMID Auto
|PMID=18681954
|Title=Breast cancer susceptibility loci and mammographic density.
|OA=1
}}

{{PMID Auto
|PMID=18708391
|Title=Breast cancer risk polymorphisms and interaction with ionizing radiation among U.S. radiologic technologists.
|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=19094228
|Title=The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=19219042
|Title=Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1.
|OA=1
}}

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

{{PMID Auto
|PMID=19304784
|Title=Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study.
|OA=1
}}

{{PMID Auto
|PMID=19454617
|Title=Genetic variation in the chromosome 17q23 amplicon and breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=19567422
|Title=Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.
|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=20213080
|Title=Genetic variants in trinucleotide repeat-containing 9 (TNRC9) are associated with risk of estrogen receptor positive breast cancer in a Chinese population.
}}

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

{{PMID Auto
|PMID=20484103
|Title=Genetic and clinical predictors for breast cancer risk assessment and stratification among Chinese women.
|OA=1
}}

{{PMID Auto
|PMID=20585626
|Title=Identification of a functional genetic variant at 16q12.1 for breast cancer risk: results from the Asia Breast Cancer Consortium.
|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=21475997
|Title=Association between rs3803662 polymorphism of trinucleotide repeat containing 9 gene and breast cancer risk.
}}

{{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=21844186
|Title=Common breast cancer susceptibility loci are associated with triple-negative breast cancer.
|OA=1
}}

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

{{PMID Auto
|PMID=22160591
|Title=A genetic risk predictor for breast cancer using a combination of low-penetrance polymorphisms in a Japanese population.
}}

{{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=rs3803662
|overall_frequency_n=68
|overall_frequency_d=128
|overall_frequency=0.53125
|n_genomes=45
|n_genomes_annotated=0
|n_haplomes=61
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23270421
|Title=The risk allele of SNP rs3803662 and the mRNA level of its closest genes TOX3 and LOC643714 predict adverse outcome for breast cancer patients
|OA=1
}}

{{PMID Auto GWAS
  |PMID=23001122
  |Trait=Breast cancer (male)
  |Title=Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk.
  |RiskAllele=
  |Pval=4E-15
  |OR=1.50
  |ORtxt=[1.35-1.66]
  |OA=1
}}

{{PMID Auto
|PMID=23486537
|Title=Comparison of genetic variation of breast cancer susceptibility genes in Chinese and German populations
}}

{{PMID Auto
|PMID=23717390
|Title=Identification of a Breast Cancer Susceptibility Locus at 4q31.22 Using a Genome-Wide Association Study Paradigm
|OA=1
}}

{{PMID Auto
|PMID=24289300
|Title=Effects of lifestyle and single nucleotide polymorphisms on breast cancer risk: a case--control study in Japanese women
|OA=1
}}

{{PMID Auto GWAS
  |PMID=23535733
  |Trait=Breast cancer
  |Title=Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
  |RiskAllele=T
  |Pval=6E-13
  |OR=1.14
  |ORtxt=[1.10-1.18]
  |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-114
  |OR=1.24
  |ORtxt=[1.21-1.27]
  |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=23577780
|Title=Associations between single-nucleotide polymorphisms and epidural ropivacaine consumption in patients undergoing breast cancer surgery.
}}

{{PMID Auto GWAS
  |PMID=24143190
  |Trait=Breast cancer
  |Title=Genome-wide association study of breast cancer in the Japanese population.
  |RiskAllele=T
  |Pval=3E-11
  |OR=1.21
  |ORtxt=[1.146-1.284]
  |OA=1
}}

{{PMID Auto
|PMID=25139936
|Title=Association of Cancer Susceptibility Variants with Risk of Multiple Primary Cancers: the Population Architecture using Genomics and Epidemiology Study
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}