NICE approved PARP inhibitor treatment
Gene: BRCA1EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 28 panels
2 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 26 Sep 2024, 2:48 p.m. | Last Modified: 26 Sep 2024, 2:48 p.m.
Panel Version: 0.5
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
BRCA1 has been added to the panel for R444 NICE approved PARP inhibitor treatment with a green rating as agreed with the NHS Genomic Medicine Service.
Sources: NHS GMSCreated: 13 Aug 2024, 9:58 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Breast-ovarian cancer, familial, 1}, OMIM:604370; Fanconi anemia, complementation group S, OMIM:617883
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- {Breast-ovarian cancer, familial, 1}, OMIM:604370
- Fanconi anemia, complementation group S, OMIM:617883
- OMIM
- 113705
- Clinvar variants
- Variants in BRCA1
- Penetrance
- None
- 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
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to BRCA1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: BRCA1 was added gene: BRCA1 was added to NICE approved PARP inhibitor treatment. Sources: NHS GMS Mode of inheritance for gene: BRCA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: BRCA1 were set to {Breast-ovarian cancer, familial, 1}, OMIM:604370; Fanconi anemia, complementation group S, OMIM:617883 Review for gene: BRCA1 was set to GREEN