Ovarian cancer pertinent cancer susceptibility
Gene: BRIP1EnsemblGeneIds (GRCh38): ENSG00000136492
EnsemblGeneIds (GRCh37): ENSG00000136492
OMIM: 605882, Gene2Phenotype
BRIP1 is in 23 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Comment on phenotypes: Association of BRIP1 and breast cancer has been refuted (https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9910) {Breast cancer, early-onset, susceptibility to}, OMIM:114480;Hereditary breast carcinoma, MONDO:0016419. However, in PMID:31822495 they report very rare BRIP1 missense germline variants (minor allele frequency < 0.0001) in nearly 2% of 2,160 early-onset breast cancer and 1,199 ovarian cancer patients. Functional studies on 20 of these variants revealed 75% resulted in protein hypomorph or null products. The authors also reported that in a clinical cohort of >117,000 breast and ovarian cancer patients, the combined odds ratio associated with BRIP1 hypomorph or null missense carriers compared to the general population was 2.30 (95%CI=1.60-3.30, p<0.0001).Created: 9 Jun 2022, 10:01 a.m. | Last Modified: 9 Jun 2022, 10:01 a.m.
Panel Version: 1.10
Catherine Snow (Genomics England)
Rating Green, following review by C Turnball (ICR), of predisposition panels for GMS phase 2 indications.
Sources: Expert listCreated: 29 Sep 2021, 12:07 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- familial ovarian cancer, MONDO:0016248
- OMIM
- 605882
- Clinvar variants
- Variants in BRIP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Inherited ovarian cancer (without breast cancer)
- Limb disorders
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Haematological malignancies cancer susceptibility
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Cytopenias and congenital anaemias
- Intellectual disability
- DDG2P
- COVID-19 research
- Pigmentary skin disorders
- Monogenic short stature
- Neurofibromatosis Type 1
- Severe microcephaly
- 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
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: BRIP1 were set to
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: BRIP1 were changed from {Breast cancer, early-onset, susceptibility to}, OMIM:114480 to familial ovarian cancer, MONDO:0016248
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BRIP1 were changed from to {Breast cancer, early-onset, susceptibility to}, OMIM:114480
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: brip1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: BRIP1 was added gene: BRIP1 was added to Ovarian cancer pertinent cancer susceptibility. Sources: Expert list Mode of inheritance for gene: BRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: BRIP1 was set to GREEN