This Panel is marked as Internal
DNA Repair Genes pertinent cancer susceptibility
Gene: BRCA1
BRCA1 (BRCA1, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 28 panels
EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 28 panels
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Homologous recombination
- Activity: Accessory factor for transcription and recombination, E3 Ubiquitin ligase
- OMIM
- 113705
- Clinvar variants
- Variants in BRCA1
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Additional findings health related
- Pigmentary skin disorders
- Inherited breast cancer and ovarian cancer
- Inherited ovarian cancer (without breast cancer)
- NICE approved PARP inhibitor treatment
- Intellectual disability
- Childhood solid tumours cancer susceptibility
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Fetal anomalies
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- COVID-19 research
- Fanconi anaemia or Bloom syndrome
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Inherited prostate cancer
- Breast cancer pertinent cancer susceptibility
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Additional findings health related - CNV analysis adult specific
- GI tract tumours
- Inherited pancreatic cancer
- Familial prostate cancer
- Additional findings health related - adult specific
History Filter Activity
7 Sep 2018, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)This Cancer Germline 100K panel has been subjected to extensive internal and external review and has been versioned to V1 to enable germline reporting in the Cancer Pipeline.
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA1 was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)BRCA1 was created by ellenmcdonagh