79207-7
BRCA1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
Active
Term Description
The test report containing results and interpretation for detection of known familial mutations of the BCRA1 gene. Known family mutations are variants that have been previously identified in other members of the patient's biological family.
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 mutation analysis limited to known familial mutations
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Long Common Name
- BRCA1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
- Short Name
- BRCA1 gene Fam Mut Anl Bld/T
- Display Name
- BRCA1 gene familial mut analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- BRCA1 gene familial variant analysis, Blood or tissue specimen
Associated Observations
81247-9 Master HL7 genetic variant reporting panel
| LOINC | Name | R/O/C | Cardinality | Example UCUM Units |
|---|---|---|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel | |||
| Indent81306-3 | Variables that apply to the overall study | |||
| Indent Indent53577-3 | Reason for study | O | 0..* | |
| Indent Indent51967-8 | Genetic disease assessed [ID] | O | 0..* | |
| Indent Indent51963-7 | Medication assessed [ID] | C | 0..* | |
| Indent Indent48018-6 | Gene studied [ID] | C | 0..* | |
| Indent Indent36908-2 | Gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | C | 0..* | |
| Indent Indent51959-5 | Range(s) of DNA sequence examined | C | 0..* | |
| Indent Indent81293-3 | Description of ranges of DNA sequences examined | C | 0..1 | |
| Indent Indent51968-6 | Discrete variation analysis overall interpretation | R | 1..1 | |
| Indent Indent83006-7 | Deletion-duplication overall interpretation | C | ||
| Indent Indent51969-4 | Genetic analysis report | O | 0..1 | |
| Indent Indent81291-7 | Variant ISCN | C | ||
| Indent Indent62374-4 | Human reference sequence assembly version | C | 0..1 | |
| Indent Indent81303-0 | HGVS version [ID] | O | 0..1 | |
| Indent Indent82115-7 | dbSNP version [ID] | O | 0..1 | |
| Indent Indent83007-5 | COSMIC version [ID] | O | ||
| Indent Indent83008-3 | ClinVar version [ID] | O | ||
| Indent81250-3 | Discrete genetic variant panel | 0..n | ||
| Indent Indent83005-9 | Variant category | |||
| Indent Indent81252-9 | Discrete genetic variant | C | 0..1 | |
| Indent Indent48018-6 | Gene studied [ID] | C | 0..1 | |
| Indent Indent51958-7 | Transcript reference sequence [ID] | C | 0..1 | |
| Indent Indent48004-6 | DNA change (c.HGVS) | C | 0..1 | |
| Indent Indent48005-3 | Amino acid change (pHGVS) | C | 0..1 | |
| Indent Indent48019-4 | DNA change type | O | 0..1 | |
| Indent Indent48006-1 | Amino acid change [Type] | O | 0..1 | |
| Indent Indent48013-7 | Genomic reference sequence [ID] | C | 0..1 | |
| Indent Indent81290-9 | Genomic DNA change (gHGVS) | C | ||
| Indent Indent69547-8 | Genomic ref allele [ID] | C | 0..1 | |
| Indent Indent81254-5 | Genomic allele start-end | C | 0..1 | |
| Indent Indent69551-0 | Genomic alt allele [ID] | C | 0..1 | |
| Indent Indent84414-2 | Haplotype name | O | ||
| Indent Indent81255-2 | dbSNP [ID] | O | 0..1 | |
| Indent Indent81257-8 | CIGAR [ID] | O | 0..1 | |
| Indent Indent48001-2 | Cytogenetic (chromosome) location | O | 0..1 | |
| Indent Indent48002-0 | Genomic source class [Type] | O | 0..1 | |
| Indent Indent81304-8 | Variant analysis method [Type] | O | ||
| Indent Indent53037-8 | Genetic variation clinical significance [Imp] | O | 0..1 | |
| Indent Indent69548-6 | Genetic variant assessment | O | ||
| Indent Indent81259-4 | Associated phenotype | O | 0..1 | |
| Indent Indent53034-5 | Allelic state | C | 0..1 | |
| Indent Indent81258-6 | Sample variant allelic frequency [NFr] | O | 0..1 | % |
| Indent Indent82121-5 | Allelic read depth | O | 0..1 | {#} |
| Indent Indent82120-7 | Allelic phase | O | 0..1 | |
| Indent Indent82309-6 | Basis for allelic phase [Type] | O | ||
| Indent81297-4 | Structural variant panel | |||
| Indent Indent82155-3 | Genomic structural variant copy number | {#} | ||
| Indent Indent81299-0 | Structural variant reported arrCGH [Ratio] | C | 0..1 | {Ratio} |
| Indent Indent81300-6 | Structural variant [Length] | O | 0..1 | {#} |
| Indent Indent81301-4 | Structural variant outer start and end | O | 0..1 | {Range} |
| Indent Indent81302-2 | Structural variant inner start and end | O | 0..1 | {Range} |
| Indent81251-1 | Complex genetic variant panel | 0..n | ||
| Indent Indent81260-2 | Complex genetic variant [ID] | C | 0..1 | |
| Indent Indent81262-8 | Complex variant HGVS name | C | 0..1 | |
| Indent Indent81263-6 | Complex variant type | C | 0..1 | |
| Indent Indent81259-4 | Associated phenotype | O | 0..1 | |
| Indent Indent53037-8 | Genetic variation clinical significance [Imp] | O | 0..1 | |
| Indent Indent53034-5 | Allelic state | O | 0..1 | |
| Indent Indent82309-6 | Basis for allelic phase [Type] | O | ||
| Indent Indent81250-3 | Discrete genetic variant panel | 0..n | ||
| Indent Indent Indent83005-9 | Variant category | |||
| Indent Indent Indent81252-9 | Discrete genetic variant | C | 0..1 | |
| Indent Indent Indent48018-6 | Gene studied [ID] | C | 0..1 | |
| Indent Indent Indent51958-7 | Transcript reference sequence [ID] | C | 0..1 | |
| Indent Indent Indent48004-6 | DNA change (c.HGVS) | C | 0..1 | |
| Indent Indent Indent48005-3 | Amino acid change (pHGVS) | C | 0..1 | |
| Indent Indent Indent48019-4 | DNA change type | O | 0..1 | |
| Indent Indent Indent48006-1 | Amino acid change [Type] | O | 0..1 | |
| Indent Indent Indent48013-7 | Genomic reference sequence [ID] | C | 0..1 | |
| Indent Indent Indent81290-9 | Genomic DNA change (gHGVS) | C | ||
| Indent Indent Indent69547-8 | Genomic ref allele [ID] | C | 0..1 | |
| Indent Indent Indent81254-5 | Genomic allele start-end | C | 0..1 | |
| Indent Indent Indent69551-0 | Genomic alt allele [ID] | C | 0..1 | |
| Indent Indent Indent84414-2 | Haplotype name | O | ||
| Indent Indent Indent81255-2 | dbSNP [ID] | O | 0..1 | |
| Indent Indent Indent81257-8 | CIGAR [ID] | O | 0..1 | |
| Indent Indent Indent48001-2 | Cytogenetic (chromosome) location | O | 0..1 | |
| Indent Indent Indent48002-0 | Genomic source class [Type] | O | 0..1 | |
| Indent Indent Indent81304-8 | Variant analysis method [Type] | O | ||
| Indent Indent Indent53037-8 | Genetic variation clinical significance [Imp] | O | 0..1 | |
| Indent Indent Indent69548-6 | Genetic variant assessment | O | ||
| Indent Indent Indent81259-4 | Associated phenotype | O | 0..1 | |
| Indent Indent Indent53034-5 | Allelic state | C | 0..1 | |
| Indent Indent Indent81258-6 | Sample variant allelic frequency [NFr] | O | 0..1 | % |
| Indent Indent Indent82121-5 | Allelic read depth | O | 0..1 | {#} |
| Indent Indent Indent82120-7 | Allelic phase | O | 0..1 | |
| Indent Indent Indent82309-6 | Basis for allelic phase [Type] | O | ||
| Indent82118-1 | Pharmacogenomics result panel | |||
| Indent Indent48018-6 | Gene studied [ID] | 1..* | ||
| Indent Indent84413-4 | Genotype display name | |||
| Indent Indent53040-2 | Genetic variation's effect on drug metabolism | C | 0..1 | |
| Indent Indent51961-1 | Genetic variation's effect on drug efficacy | C | 0..1 | |
| Indent Indent83009-1 | Genetic variation's effect on high-risk allele | |||
| Indent Indent82117-3 | Medication usage implications panel | O | 0..* | |
| Indent Indent Indent51963-7 | Medication assessed [ID] | R | 1..* | |
| Indent Indent Indent82116-5 | Medication usage suggestion [Type] | C | 1..1 | |
| Indent Indent Indent83010-9 | Medication usage suggestion [Narrative] | C | ||
| Indent83011-7 | Haplotype definition panel | |||
| Indent Indent48018-6 | Gene studied [ID] | C | 0..1 | |
| Indent Indent84414-2 | Haplotype name | O | ||
| Indent Indent81250-3 | Discrete genetic variant panel | 0..n | ||
| Indent Indent Indent83005-9 | Variant category | |||
| Indent Indent Indent81252-9 | Discrete genetic variant | C | 0..1 | |
| Indent Indent Indent48018-6 | Gene studied [ID] | C | 0..1 | |
| Indent Indent Indent51958-7 | Transcript reference sequence [ID] | C | 0..1 | |
| Indent Indent Indent48004-6 | DNA change (c.HGVS) | C | 0..1 | |
| Indent Indent Indent48005-3 | Amino acid change (pHGVS) | C | 0..1 | |
| Indent Indent Indent48019-4 | DNA change type | O | 0..1 | |
| Indent Indent Indent48006-1 | Amino acid change [Type] | O | 0..1 | |
| Indent Indent Indent48013-7 | Genomic reference sequence [ID] | C | 0..1 | |
| Indent Indent Indent81290-9 | Genomic DNA change (gHGVS) | C | ||
| Indent Indent Indent69547-8 | Genomic ref allele [ID] | C | 0..1 | |
| Indent Indent Indent81254-5 | Genomic allele start-end | C | 0..1 | |
| Indent Indent Indent69551-0 | Genomic alt allele [ID] | C | 0..1 | |
| Indent Indent Indent84414-2 | Haplotype name | O | ||
| Indent Indent Indent81255-2 | dbSNP [ID] | O | 0..1 | |
| Indent Indent Indent81257-8 | CIGAR [ID] | O | 0..1 | |
| Indent Indent Indent48001-2 | Cytogenetic (chromosome) location | O | 0..1 | |
| Indent Indent Indent48002-0 | Genomic source class [Type] | O | 0..1 | |
| Indent Indent Indent81304-8 | Variant analysis method [Type] | O | ||
| Indent Indent Indent53037-8 | Genetic variation clinical significance [Imp] | O | 0..1 | |
| Indent Indent Indent69548-6 | Genetic variant assessment | O | ||
| Indent Indent Indent81259-4 | Associated phenotype | O | 0..1 | |
| Indent Indent Indent53034-5 | Allelic state | C | 0..1 | |
| Indent Indent Indent81258-6 | Sample variant allelic frequency [NFr] | O | 0..1 | % |
| Indent Indent Indent82121-5 | Allelic read depth | O | 0..1 | {#} |
| Indent Indent Indent82120-7 | Allelic phase | O | 0..1 | |
| Indent Indent Indent82309-6 | Basis for allelic phase [Type] | O |
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.65 (MIN)
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| el-GR | Greek (Greece) | Γονίδιο BRCA1 ανάλυση μετάλλαξης περιοριζόμενη σε γνωστές οικογενείς μεταλλάξεις: Synonyms: BRCA1 Γονίδιο Γονίδιο BRCA1 Εύρεση Μεταλλάξεις |
| es-ES | Spanish (Spain) | Gen BRCA1 Análisis de mutaciones limitado al conocimiento de las mutaciones familiares: |
| es-MX | Spanish (Mexico) | Análisis de mutación del gen BRCA1 limitado a mutaciones familiares conocidas: |
| fr-FR | French (France) | BRCA1 gène mutation recherche limitée aux mutations familiales connues: |
| it-IT | Italian (Italy) | BRCA1, gene, analisi di mutazione limitata a mutazioni familiari note: Synonyms: Gene BRCA1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | BRCA1-gen mutatieanalyse gelimiteerd tot bekende familiaire mutaties: Synonyms: BRCA1 gen molgen |
| ru-RU | Russian (Russian Federation) | BRCA1 ген исследование на мутацию, ограниченный известными семейными мутациями: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | BRCA1 geni mutasyon analizi, bilinen ailesel mutasyonlarla sınırlandırılmış: |
| zh-CN | Chinese (China) | BRCA1 基因 局限于已知家族性突变的突变分析: Synonyms: PSCP; |
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