Adult solid tumours cancer susceptibility
Gene: BRAF
BRAF (B-Raf proto-oncogene, serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 24 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that RASopathy associated genes associated with cancer will be included in this panel; however, there it is unclear whether this gene predisposes patients to cancer so therefore this has been rated amber.Created: 2 Aug 2019, 12:34 p.m. | Last Modified: 2 Aug 2019, 12:34 p.m.
Panel Version: 1.5
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Unclear predisposition to cancerCreated: 2 Aug 2019, 12:34 p.m. | Last Modified: 2 Aug 2019, 12:34 p.m.
Panel Version: 1.5
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Cardiofaciocutaneous syndrome 115150
- Noonan syndrome 7 613706
- LEOPARD syndrome 3 613707
- OMIM
- 164757
- Clinvar variants
- Variants in BRAF
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Multiple monogenic benign skin tumours
- DDG2P
- Pigmentary skin disorders
- Monogenic short stature
- Neurofibromatosis Type 1
- Fetal hydrops
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Inherited non-medullary thyroid cancer
- Early onset or syndromic epilepsy
- Fetal anomalies
- Pituitary hormone deficiency
- Hereditary neuropathy or pain disorder
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
2 Aug 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: BRAF was added gene: BRAF was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BRAF were set to 23875798 Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome 115150; Noonan syndrome 7 613706; LEOPARD syndrome 3 613707