NICE approved PARP inhibitor treatment
Gene: BRCA2EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 36 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 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' 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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Achchuthan Shanmugasundram (Genomics England Curator)
BRCA2 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, 10:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Breast-ovarian cancer, familial, 2}, OMIM:612555; {Breast cancer, male, susceptibility to}, OMIM:114480; {Prostate cancer}, OMIM:176807
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- {Breast-ovarian cancer, familial, 2}, OMIM:612555
- {Breast cancer, male, susceptibility to}, OMIM:114480
- {Prostate cancer}, OMIM:176807
- OMIM
- 600185
- Clinvar variants
- Variants in BRCA2
- Penetrance
- None
- Panels with this gene
-
- NICE approved PARP inhibitor treatment
- Radial dysplasia
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Severe microcephaly
- Haematological malignancies cancer susceptibility
- Monogenic short stature
- Fetal anomalies
- Inherited prostate cancer
- Breast cancer pertinent cancer susceptibility
- Haematological malignancies for rare disease
- Inherited pancreatic cancer
- Pigmentary skin disorders
- Inherited breast cancer and ovarian cancer
- Familial melanoma
- Childhood solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- 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
- Intellectual disability
- GI tract tumours
- Sarcoma susceptibility
- Familial prostate cancer
- Additional findings health related - adult specific
- Limb disorders
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Additional findings health related
- Inherited ovarian cancer (without breast cancer)
- DDG2P
History Filter Activity
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to BRCA2. 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: BRCA2 was added gene: BRCA2 was added to NICE approved PARP inhibitor treatment. Sources: NHS GMS Mode of inheritance for gene: BRCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BRCA2 were set to {Breast-ovarian cancer, familial, 2}, OMIM:612555; {Breast cancer, male, susceptibility to}, OMIM:114480; {Prostate cancer}, OMIM:176807 Review for gene: BRCA2 was set to GREEN