Childhood solid tumours cancer susceptibility
Gene: BRCA1EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 28 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Feedback from Clare Turnbull: should be biallelic for childhood tumours.Created: 20 Jul 2017, 12:02 p.m.
Clare Turnbull (Queen Mary University London)
Tumour suppressor. Report biallelic only.Created: 5 Jul 2017, 11:28 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hereditary Breast and Ovarian Cancer
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- {Breast-ovarian cancer, familial, 1}, OMIM:604370
- OMIM
- 113705
- Clinvar variants
- Variants in BRCA1
- Penetrance
- Complete
- Publications
- 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
- Haematological malignancies cancer susceptibility
- Intellectual disability
- 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
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumour suppressor. Report bial
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for BRCA1 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for BRCA1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA1 was added to Childhood solid tumourspanel. Source: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA1 was added to Childhood solid tumourspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)BRCA1 was created by ellenmcdonagh