BRCA2 BRCA2 DNA repair associated

Gene ID: 675, updated on 26-Mar-2023
Gene type: protein coding
Also known as: FAD; FACD; FAD1; GLM3; BRCC2; FANCD; PNCA2; FANCD1; XRCC11; BROVCA2

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Breast-ovarian cancer, familial, susceptibility to, 2 MedGen: C2675520OMIM: 612555GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer	See labs
Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available
Familial cancer of breast MedGen: C0346153OMIM: 114480GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer	See labs
Fanconi anemia complementation group D1 MedGen: C1838457OMIM: 605724GeneReviews: Wilms Tumor Predisposition, Fanconi Anemia, Esophageal Atresia/Tracheoesophageal Fistula Overview	See labs
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. GeneReviews: Not available
Glioma susceptibility 3 MedGen: C2751641OMIM: 613029GeneReviews: Not available	See labs
Hereditary breast ovarian cancer syndrome MedGen: C0677776GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer	See labs
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. GeneReviews: Not available
Malignant tumor of prostate MedGen: C0376358OMIM: 176807GeneReviews: Not available	See labs
Medulloblastoma MedGen: C0025149OMIM: 155255GeneReviews: Not available	See labs
Pancreatic cancer, susceptibility to, 2 MedGen: C3150546OMIM: 613347GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer	See labs
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. GeneReviews: Not available
Wilms tumor 1 MedGen: CN033288OMIM: 194070GeneReviews: Wilms Tumor Predisposition, PAX6-Related Aniridia, WT1 Disorder	See labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-07-14) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2021-07-14) ClinGen Genome Curation Page

Genomic context

Location:: 13q13.1

Sequence:: Chromosome: 13; NC_000013.11 (32315508..32400268)

Total number of exons:: 28

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	GeneView Report Go to Variation Viewer for BRCA2 variants
1000 Genomes	See 1000 Genomes Browser (GRCh37.p13)

Links

BioSystems
BioSystems
BRCA2 @ ZAC-GGM
BRCA2 homepage - LOVD
Breast Cancer Information Core (BIC)
Catalogue of Somatic Mutations in Cancer (COSMIC)
ClinVar
Related medical variations
Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified using a quantitative integrated evaluation
dbVar
Link from Gene to dbVar
Fanconi Anaemia Mutation Database (FANCD1 - BRCA2)
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SNP: GeneView
SNPs linked from GeneView

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