Familial breast cancer
Gene: BRIP1EnsemblGeneIds (GRCh38): ENSG00000136492
EnsemblGeneIds (GRCh37): ENSG00000136492
OMIM: 605882, Gene2Phenotype
BRIP1 is in 23 panels
3 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Intermediate penetrance variant; expert reviewers have marked as unsuitable for diagnostic use at the current time.Created: 29 Jan 2016, 1:56 p.m.
Clare Turnbull (Queen Mary University London)
Intermediate penetrance (max RR~3). Equivocal regarding susceptibility to BC, better data for OC.Created: 2 Oct 2015, 10:37 a.m.
Paul Pharoah (University of Cambridge)
There are no good data linking loss-of-function variants in this gene to breast cancer susceptibilityCreated: 28 Sep 2015, 5:34 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Breast cancer, early-onset, susceptibility to}, OMIM:114480
- OMIM
- 605882
- Clinvar variants
- Variants in BRIP1
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Familial prostate cancer
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Fetal anomalies
- Severe microcephaly
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BRIP1 were changed from ?Breast cancer, early-onset, 114480; Fanconi anemia, complementation group J, 609054; Breast and Ovarian Cancer; Breast Cancer to {Breast cancer, early-onset, susceptibility to}, OMIM:114480
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene BRIP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)BRIP1 was added to Familial breast cancerpanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)BRIP1 was added to Familial breast cancerpanel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)BRIP1 was added to Familial breast cancerpanel. Sources: Radboud University Medical Center, Nijmegen