Cytopenias and congenital anaemias
Gene: BRCA1EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 28 panels
3 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Amber at present. One report in humans in biallelic form.Created: 10 Mar 2017, 1:13 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on publications: PMID: 28122244 - mice homozygous for a null Brca1 mutation in the embryonic hematopoietic system developed hematopoietic defects in early adulthood that included reduced hematopoietic stem cells. PMID: 26644450 - mouse model. PMID: 25472942 - one patient reported with biallelic mutations in BRCA1 with congenital anomalies consistent with a Fanconi anemia-like disorder and breast cancer at age 23.Created: 1 Mar 2017, 4:50 p.m.
Comment on list classification: Unsure due to incidental findings.Created: 1 Mar 2017, 4:10 p.m.
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Fanconi anemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Fanconi anemia, complementation group S, OMIM:617883
- 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 Fanconi anemia to Fanconi anemia, complementation group S, OMIM:617883
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for BRCA1 was changed to BIALLELIC, autosomal or pseudoautosomal
Set publications
Ellen McDonagh (Genomics England Curator)Publications for BRCA1 were set to 25472942; 28122244; 26644450;25472942
Set publications
Ellen McDonagh (Genomics England Curator)Publications for BRCA1 were set to 25472942; 28122244;26644450
Set publications
Ellen McDonagh (Genomics England Curator)Publications for BRCA1 were set to 25472942;28122244
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Created
Louise Daugherty (Genomics England Curator)BRCA1 was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)BRCA1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)