38531-0
BRCA2 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP31855-7 BRCA2 gene
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
Fully-Specified Name
- Component
- BRCA2 gene mutations tested for
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- BRCA2 gene Mut Tested Bld/T
- Display Name
- BRCA2 gene mutations tested for Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- BRCA2 gene variants tested for, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.14
- Last Updated
- Version 2.52
- Order vs. Observation
- Observation
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-AR | Spanish (Argentina) | gen BRCA2.C.6174 DEL T: |
es-ES | Spanish (Spain) | Gen BCRA2 Análisis de mutaciones para...: |
es-MX | Spanish (Mexico) | Mutaciones del gen BRCA2 analizadas para: |
fr-FR | French (France) | BRCA2 gène mutations recherchées: |
it-IT | Italian (Italy) | BRCA2, gene, mutazioni testate per: Synonyms: Gene BRCA2 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
ko-KR | Korean (Korea, Republic Of) | BRCA2 유전자 돌연변이 분석용: |
nl-NL | Dutch (Netherlands) | BRCA2-gen geteste mutaties: Synonyms: BRCA2 gen molgen |
pt-BR | Portuguese (Brazil) | BRCA2 teste para mutação do gene: Synonyms: ; |
ru-RU | Russian (Russian Federation) | BRCA2 ген мутации тестирован на: Synonyms: Кровь Кровь или Ткань Номинальный; |
tr-TR | Turkish (Turkey) | BRCA2 geni mutasyonlar, test edilen: |
zh-CN | Chinese (China) | BRCA2 基因 已测试的突变: Synonyms: Ashkenazi 犹太人群全面身体检查; |
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- CodeSystem lookup
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