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
-
- 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
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