Prostate Cancer Ontology

Last uploaded: June 6, 2023
Preferred Name

BRCA2

Synonyms
Definitions

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 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, Dec 2008]

ID

http://www.semanticweb.org/ontologies/2018/1/ProstateCancer.owl#BRCA2

definition

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 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, Dec 2008]

label

BRCA2

preferredName

BRCA2 BRCA2, DNA repair associated

prefixIRI

ProstateCancer:BRCA2

prefLabel

BRCA2

reference

Location: 13q13.1; Sequence: Chromosome: 13; NC_000013.11 (32315480..32399672)

synonyms

FAD; FACD; FAD1; GLM3; BRCC2; FANCD; PNCA2; FANCD1; XRCC11; BROVCA2

URL

https://www.ncbi.nlm.nih.gov/gtr/genes/675/

subClassOf

http://www.semanticweb.org/ontologies/2018/1/ProstateCancer.owl#Gene

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