21639-0
BRCA1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP19666-4 BRCA1 gene
The BRCA1 gene (breast cancer 1, early onset) [HGNC Gene ID:1100] is located on chromosome 17q21. This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009] [NCBI Gene ID:672]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- BRCA1 gene mutations tested for
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- BRCA1 gene Mut Tested Bld/T
- Display Name
- BRCA1 gene mutations tested for Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- BRCA1 gene variants tested for, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 1.0m
- Last Updated
- Version 2.13
- Order vs. Observation
- Observation
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-AR | Spanish (Argentina) | determinación de las mutaciones del gen BRCA1: |
| es-ES | Spanish (Spain) | Gen BRCA1 Análisis de mutaciones para...: |
| es-MX | Spanish (Mexico) | Mutaciones del gen BRCA1 analizadas para: |
| fr-CA | French (Canada) | Gène BRCA1, Mutations testées: |
| fr-FR | French (France) | BRCA1 gène mutations recherchées: |
| it-IT | Italian (Italy) | BRCA1, gene, mutazioni testate per: Synonyms: Gene BRCA1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | BRCA1유전자 돌연변이 분석용: |
| nl-NL | Dutch (Netherlands) | BRCA1-gen geteste mutaties: Synonyms: BRCA1 gen molgen |
| pt-BR | Portuguese (Brazil) | BRCA1 teste para mutação do gene: Synonyms: Breast cancer 1, early onset; |
| ru-RU | Russian (Russian Federation) | BRCA1 ген мутации тестирован на: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | BRCA1 geni mutasyonlar, test edilen: |
| zh-CN | Chinese (China) | BRCA1 基因 已测试的突变: Synonyms: PSCP; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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