Familial breast cancer
Gene: BRCA2EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 36 panels
3 reviews
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Treena Cranston (Oxford)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Paul Pharoah (University of Cambridge)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert list
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Breast-ovarian cancer, familial, 2}, OMIM:612555
- {Breast cancer, male, susceptibility to}, OMIM:114480
- OMIM
- 600185
- Clinvar variants
- Variants in BRCA2
- Penetrance
- Complete
- Panels with this gene
-
- Radial dysplasia
- Intellectual disability
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Limb disorders
- Inherited prostate cancer
- Primary immunodeficiency or monogenic inflammatory bowel disease
- 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
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BRCA2 were changed from {Breast-ovarian cancer, familial, 2}, 612555; Fanconi anemia, complementation group D1, 605724; Prostate cancer, 176807; {Breast cancer, male, susceptibility to}, 114480; Wilms tumor, 194070; {Medulloblastoma}, 155255; {Glioblastoma 3},; Hereditary Breast and Ovarian Cancer ; Hereditary Breast and Ovarian Cancer Syndrome; Breast and Ovarian Cancer; High Risk Breast Cancer ; Breast cancer to {Breast-ovarian cancer, familial, 2}, OMIM:612555; {Breast cancer, male, susceptibility to}, OMIM:114480
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for BRCA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Familial breast cancerpanel. Sources: Eligibility statement prior genetic testing
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene BRCA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)BRCA2 was added to Familial breast cancerpanel. Sources: Expert list
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene BRCA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)BRCA2 was added to Familial breast cancerpanel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)BRCA2 was added to Familial breast cancerpanel. Sources: Emory Genetics Laboratory
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene BRCA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)BRCA2 was added to Familial breast cancerpanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)BRCA2 was added to Familial breast cancerpanel. Sources: Radboud University Medical Center, Nijmegen