rs1799943
This variant is located in the BRCA2 gene.
▶ClinVar annotation
Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
View on ClinVar →▶Research that mentions this SNP (3)
▶Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31BRCA2Genetic VariantsFunctionalN=1,279Gorka Ruiz de Garibay et al.(2014)· Human Mutation
This paper performs capillary electrophoresis analysis of splicing assays on 31 BRCA2 genetic variants to analytically classify them according to IARC guidelines. Three clinically relevant Class-5 variants were identified (c.682-2A>G, c.7617+1G>A, c.8954-5A>G), 27 variants were classified as Class-2 (non-splicing altering), and rs9534262 (c.7806-14T>C) was identified as a splicing quantitative trait locus (sQTL) that regulates BRCA2 alternative splicing (p=0.006).
▶Association analysis of PALB2 and BRCA2 in bipolar disorder and schizophrenia in a scandinavian case–control sampleAssociationN=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.
▶Lung cancer susceptibility and prognosis associated with polymorphisms in the nonhomologous end‐joining pathway genesAssociationN=768Ruo‐Chia Tseng et al.(2009)· Cancer
A case-control study of 384 glioma patients and 384 controls investigated 10 SNPs in 7 DNA double-strand break repair genes. LIG4 rs1805388 (T9I, OR=3.27 for TT and 1.62 for TC) and XRCC4 rs1805377 (splice-site, OR=1.77 for GG) were significantly associated with increased glioma risk. The two variants showed significant gene-gene interaction effects (multiplicative OR=2.22, p=0.005).
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]
View all BRCA2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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