Familial breast cancer
Gene: BRCA1EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 28 panels
3 reviews
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Treena Cranston (Oxford)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Paul Pharoah (University of Cambridge)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert list
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Breast-ovarian cancer, familial, 1}, OMIM:604370
- Tags
- OMIM
- 113705
- Clinvar variants
- Variants in BRCA1
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Cytopenias and congenital anaemias
- Inherited prostate cancer
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- NICE approved PARP inhibitor treatment
- Intellectual disability
- Haematological malignancies cancer susceptibility
- Inherited pancreatic cancer
- Pigmentary skin disorders
- COVID-19 research
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Additional findings health related - CNV analysis adult specific
- GI tract tumours
- Breast cancer pertinent cancer susceptibility
- Familial prostate cancer
- Additional findings health related - adult specific
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Additional findings health related
- Fetal anomalies
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag watchlist_moi tag was added to gene: BRCA1.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BRCA1 were changed from {Breast-ovarian cancer, familial, 1}, 604370; {Pancreatic cancer, susceptibility to, 4}, 614320; Hereditary Breast and Ovarian Cancer ; Hereditary Breast and Ovarian Cancer Syndrome; Breast and Ovarian Cancer; High Risk Breast Cancer ; Breast cancer to {Breast-ovarian cancer, familial, 1}, OMIM:604370
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for BRCA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA1 was added to Familial breast cancerpanel. Sources: Eligibility statement prior genetic testing
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene BRCA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)BRCA1 was added to Familial breast cancerpanel. Sources: Expert list
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene BRCA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)BRCA1 was added to Familial breast cancerpanel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)BRCA1 was added to Familial breast cancerpanel. Sources: Emory Genetics Laboratory
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene BRCA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)BRCA1 was added to Familial breast cancerpanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)BRCA1 was added to Familial breast cancerpanel. Sources: Radboud University Medical Center, Nijmegen