Adult solid tumours cancer susceptibility
Gene: BRCA1EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 28 panels
3 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 12:34 p.m. | Last Modified: 2 Aug 2019, 12:34 p.m.
Panel Version: 1.5
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Changed from monoallelic to 'both' monoallelic and biallelic, due to feedback from Lara Hawkes and Clare Turnbull (Cancer Clinical Team, Genomics England); biallelic variants in this gene cause Fanconi anemia, complementation group S, whereas monoallelic variants confer susceptibility to Breast-ovarian cancer, familial, 1.Created: 20 Aug 2018, 11:53 a.m.
Clare Turnbull (Queen Mary University London)
Tumor Suppressor. Biallelic phenotype.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary Breast and Ovarian Cancer
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- {Breast-ovarian cancer, familial, 1}, OMIM:604370
- Fanconi anemia, complementation group S, OMIM:617883
- OMIM
- 113705
- Clinvar variants
- Variants in BRCA1
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- 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
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BRCA1 were changed from Hereditary Breast and Ovarian Cancer to {Breast-ovarian cancer, familial, 1}, OMIM:604370; Fanconi anemia, complementation group S, OMIM:617883
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to BRCA1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumor Suppressor. Biallelic ph
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: BRCA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA1 was added to Adult solid tumourspanel. Source: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)BRCA1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA1 was added to Adult solid tumourspanel. Sources: Expert list