Version 2.78

Description

The BRCA2 gene (breast cancer 2, early onset) [HGNC Gene ID:1101] is located on chromosome 13q12.3. 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] [NCBI Gene ID:675] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Display Name
BRCA2 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2003-07-28
Construct for LOINC Short Name
BRCA2 gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP31855-7
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP31855-7

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) BRCA2 基因
Synonyms: Ashkenazi 犹太人群全面身体检查;Ashkenazi 犹太人群诊断检查;FANCB;FANCD1;乳腺癌 2, 早期发病;北欧犹太人群全面身体检查;北欧犹太人群诊断检查;阿肯纳西犹太人群全面身体检查;阿肯纳西犹太人群诊断检查
et-EE Estonian (Estonia) BRCA2 geen
es-ES Spanish (Spain) Gen BCRA2
it-IT Italian (Italy) BRCA2, gene
Synonyms: Gene BRCA2
tr-TR Turkish (Turkey) BRCA2 geni
ru-RU Russian (Russian Federation) BRCA2 ген
nl-NL Dutch (Netherlands) BRCA2-gen
Synonyms: BRCA2 gen