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 cancer susceptibility
- Haematological malignancies cancer susceptibility
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Inherited prostate cancer
- Cytopenias and congenital anaemias
- NICE approved PARP inhibitor treatment
- COVID-19 research
- Inherited pancreatic cancer
- Childhood solid tumours
- 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
- Familial prostate cancer
- Additional findings health related - adult specific
- Intellectual disability
- Confirmed Fanconi anaemia or Bloom syndrome
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Fetal anomalies
- DDG2P
- Additional findings health related
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