Tumour predisposition - adult onset
Gene: BRCA1EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 28 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Adult solid tumours for rare disease (Version 1.21)
- Phenotypes
-
- Hereditary Breast and Ovarian Cancer
- OMIM
- 113705
- Clinvar variants
- Variants in BRCA1
- Penetrance
- None
- Panels with this gene
-
- Inherited pancreatic cancer
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours cancer susceptibility
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Intellectual disability
- Haematological malignancies cancer susceptibility
- DDG2P
- Cytopenias and congenital anaemias
- NICE approved PARP inhibitor treatment
- COVID-19 research
- Fetal anomalies
- Inherited ovarian cancer (without breast cancer)
- Pigmentary skin disorders
- 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
- Inherited breast cancer and ovarian cancer
- Adult solid tumours cancer susceptibility
- Inherited prostate cancer
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Additional findings health related
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: BRCA1 was added gene: BRCA1 was added to Tumour predisposition - adult onset. Sources: Adult solid tumours for rare disease (Version 1.21),Expert Review Green Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BRCA1 were set to Hereditary Breast and Ovarian Cancer