rs9567552

This is a regulatory region variant variant in the BRCA2 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

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ClinVar annotation

Benign★★★★
2 submitters

Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)

View on ClinVar →
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Research that mentions this SNP (2)

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Association of RANBP1 haplotype with smooth pursuit eye movement abnormality
ReviewHyun Sub Cheong et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This comprehensive review examines the genomics of schizophrenia and pharmacogenomics of antipsychotic drugs, synthesizing evidence on over 200 genes associated with psychotic disorders. The authors discuss five categories of genes relevant to antipsychotic response: disease-associated genes, mechanism-of-action genes, drug metabolism genes (particularly CYP2D6, CYP2C19, CYP2C9, CYP3A4), drug transporter genes, and pleiotropic genes. The review details pharmacogenomic profiles of 20+ antipsychotic drugs and demonstrates significant ethnic and interindividual variation in drug metabolism phenotypes, with examples including CYP2D6 extensive metabolizers (55.71% of population), intermediate metabolizers (34.7%), poor metabolizers (2.28%), and ultra-rapid metabolizers (7.31%).

Traits studied:Alzheimer diseaseAntipsychotic drug responseAntipsychotic drug side effectsAnxiety disordersBipolar disorderCNS disordersDepressive disorderParkinson's diseasePsychotic disordersSchizoaffective disorderSchizophreniaTardive dyskinesiaVascular dementia
PubMedDOIMetascience Observatory
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Association analysis of PALB2 and BRCA2 in bipolar disorder and schizophrenia in a scandinavian case–control sample
AssociationN=25,788Martin Tesli et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

A Scandinavian case-control study investigated the association between PALB2 and BRCA2 variants and bipolar disorder (BD) and schizophrenia (SCZ). The PALB2 SNP rs420259 showed significant association with BD (meta-analysis P = 1.2 × 10⁻⁵, OR = 0.85 across 5,547 cases/20,241 controls), replicating prior GWAS findings. The BRCA2 SNP rs9567552 was strongly associated with BD in the Scandinavian sample (P = 0.00043, OR = 1.32), identified as a new candidate gene. No significant associations were found with schizophrenia for either SNP.

Traits studied:Bipolar DisorderSchizophrenia
PubMedDOIMetascience Observatory

About BRCA2

Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The largest exon in both genes is exon 11, which harbors the most important and frequent mutations in breast cancer patients. The BRCA2 gene was found on chromosome 13q12.3 in human. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, May 2020]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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