rs11571818

This variant is located in the BRCA2 gene.

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GWAS Catalog Trait Associations (9)

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

squamous cell lung carcinoma

Gorman BR et al. “Multi-ancestry GWAS meta-analyses of lung cancer reveal susceptibility loci and elucidate smoking-independent genetic risk.” Nature Communications 15(1):8629 (2024)
Allele T
OR 0.50
p 4.0e-25
N 135,790
Large GWAS
multi-ancestry
McKay JD et al. “Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.” Nature Genetics 49(7):1126-1132 (2017)
Allele T
OR 2.13
p 1.0e-15
N 63,053
Large GWAS
European

actinic keratosis

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.24
p 3.0e-22
N 412,119
Major Consortium StudyLarge GWAS
European

squamous cell carcinoma

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.44
p 3.0e-18
N 620,264
Major Consortium StudyLarge GWAS
multi-ancestry

respiratory system cancer

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.43
p 2.0e-14
N 447,060
Major Consortium StudyLarge GWAS
European

skin neoplasm

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.21
p 1.0e-13
N 429,041
Major Consortium StudyLarge GWAS
European

bronchus cancer

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.41
p 2.0e-12
N 447,662
Major Consortium StudyLarge GWAS
European

cutaneous melanoma

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.23
p 3.0e-12
N 434,871
Major Consortium StudyLarge GWAS
European

skin disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.17
p 3.0e-12
N 397,744
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Benign★★★★
27 submitters12 publications

Hereditary breast ovarian cancer syndrome; Breast-ovarian cancer, familial, susceptibility to, 2; not specified; Hereditary cancer-predisposing syndrome; Familial cancer of breast; Breast and/or ovarian cancer; not provided

View on ClinVar →

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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