Sarcoma susceptibility
Gene: BRCA2
BRCA2 (BRCA2, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 36 panels
EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 36 panels
1 review
Rebecca Foulger (Genomics England curator)
This gene was added to the panel as suggested by Dr Fernanda Amary (Royal National Orthopaedic Hospital, NHS Trust). Gene Symbol submitted: BRCA2; Evidence for inclusion: PMID:27498913. Rated Amber as agreed at the Genomics Cancer Panel Workshop, 16th July 2019.Created: 23 Jul 2019, 3:16 p.m. | Last Modified: 23 Jul 2019, 3:16 p.m.
Panel Version: 0.2
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Amber
- Expert list
- Phenotypes
-
- Sarcoma, MONDO:0005089
- OMIM
- 600185
- Clinvar variants
- Variants in BRCA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Radial dysplasia
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Inherited prostate cancer
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Limb disorders
- NICE approved PARP inhibitor treatment
- Haematological malignancies cancer susceptibility
- Inherited pancreatic cancer
- Pigmentary skin disorders
- COVID-19 research
- Haematological malignancies for rare disease
- Confirmed Fanconi anaemia or Bloom syndrome
- Familial melanoma
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Cytopenias and congenital anaemias
- DDG2P
- Intellectual disability
- Prostate cancer pertinent cancer susceptibility
- Monogenic short stature
- Neurofibromatosis Type 1
- Adult solid tumours for rare disease
- Additional findings health related - CNV analysis adult specific
- GI tract tumours
- Breast cancer pertinent cancer susceptibility
- Sarcoma susceptibility
- Familial prostate cancer
- Additional findings health related - adult specific
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Additional findings health related
- Severe microcephaly
History Filter Activity
11 Mar 2021, Gel status: 2
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: BRCA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Mar 2021, Gel status: 2
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BRCA2 were changed from to Sarcoma, MONDO:0005089
1 Aug 2019, Gel status: 2
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to BRCA2.
23 Jul 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications
Rebecca Foulger (Genomics England curator)gene: BRCA2 was added gene: BRCA2 was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: BRCA2 was set to Publications for gene: BRCA2 were set to 17224268; 27498913