Childhood solid tumours cancer susceptibility
Gene: BRCA2EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 36 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Feedback from Clare Turnbull: only biallelic variants should be reported back for childhood panel.Created: 20 Jul 2017, 12:06 p.m.
Clare Turnbull (Queen Mary University London)
Tumour suppressor. Report biallelic only.Created: 5 Jul 2017, 11:28 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hereditary Breast and Ovarian Cancer
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Fanconi anemia, complementation group D1, OMIM:605724
- Wilms tumor, OMIM:194070
- {Glioblastoma 3}, OMIM:613029
- {Medulloblastoma}, OMIM:155255
- OMIM
- 600185
- Clinvar variants
- Variants in BRCA2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Additional findings health related
- Fetal anomalies
- Inherited ovarian cancer (without breast cancer)
- NICE approved PARP inhibitor treatment
- Monogenic short stature
- Radial dysplasia
- Intellectual disability
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Limb disorders
- Severe microcephaly
- Inherited prostate cancer
- Breast cancer pertinent cancer susceptibility
- Haematological malignancies for rare disease
- Inherited pancreatic cancer
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Inherited breast cancer and ovarian cancer
- Familial melanoma
- Childhood solid tumours cancer susceptibility
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- COVID-19 research
- Fanconi anaemia or Bloom syndrome
- Prostate cancer pertinent cancer susceptibility
- Neurofibromatosis Type 1
- Adult solid tumours for rare disease
- Additional findings health related - CNV analysis adult specific
- GI tract tumours
- Sarcoma susceptibility
- Familial prostate cancer
- Additional findings health related - adult specific
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BRCA2 were changed from Hereditary Breast and Ovarian Cancer to Fanconi anemia, complementation group D1, OMIM:605724; Wilms tumor, OMIM:194070; {Glioblastoma 3}, OMIM:613029; {Medulloblastoma}, OMIM:155255
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumour suppressor. Report bial
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for BRCA2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Childhood solid tumourspanel. Source: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)BRCA2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Childhood solid tumourspanel. Sources: Expert list