×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
GeneticVariation
disease
BEFREE
These findings suggest that novel missense variants within the helicase domain of BRIP1 may confer risk for both breast and ovarian cancer and highlight the importance of functional testing for additional variants.
31822495
2020
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
CausalMutation
disease
CLINVAR
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
29368626
2018
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
GeneticVariation
disease
BEFREE
Based on the negative association between BRIP1 LoF mutations and familial BC in the absence of an OC family history, we conclude that the elevated mutation prevalence in the latter cohort was driven by the occurrence of OC in these families.
29368626
2018
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
Biomarker
disease
BEFREE
Population-based BRCA1/BRCA2/RAD51C/RAD51D/BRIP1 /PALB2 testing can prevent 1.86%/1.91% of BC and 3.2%/4.88% of OC in UK/US women: 657/655 OC cases and 2420/2386 BC cases prevented per million.
29361001
2018
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
GeneticVariation
disease
CLINVAR
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
29368626
2018
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
CausalMutation
disease
CLINVAR
Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.
28423363
2017
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
CausalMutation
disease
CLINVAR
Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.
28495237
2017
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
CausalMutation
disease
CLINVAR
Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.
26786923
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
GeneticVariation
disease
CLINVAR
Inherited Mutations in Women With Ovarian Carcinoma.
26720728
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
GeneticVariation
disease
BEFREE
Aberrations in BRIP1 have been mainly associated with the development of breast cancer (BC), ovarian cancer , and type J Fanconi anemia.
26709662
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
GeneticVariation
disease
CLINVAR
Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.
27443514
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
CausalMutation
disease
CLINVAR
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
26921362
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
GeneticVariation
disease
CLINVAR
Improving performance of multigene panels for genomic analysis of cancer predisposition.
26845104
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
CausalMutation
disease
CLINVAR
Improving performance of multigene panels for genomic analysis of cancer predisposition.
26845104
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
GeneticVariation
disease
CLINVAR
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
26921362
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
GeneticVariation
disease
CLINVAR
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
27153395
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
GeneticVariation
disease
CLINVAR
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
26681312
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
CausalMutation
disease
CLINVAR
The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.
27165003
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
CausalMutation
disease
CLINVAR
Genetic testing in a cohort of young patients with HER2-amplified breast cancer.
26681682
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
CausalMutation
disease
CLINVAR
Inherited Mutations in Women With Ovarian Carcinoma.
26720728
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
GeneticVariation
disease
CLINVAR
Monogenic and polygenic determinants of sarcoma risk: an international genetic study.
27498913
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
CausalMutation
disease
CLINVAR
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
26976419
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
CausalMutation
disease
CLINVAR
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
26681312
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
CausalMutation
disease
CLINVAR
Patterns and functional implications of rare germline variants across 12 cancer types.
26689913
2015
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.490
CausalMutation
disease
CLINVAR
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
26315354
2015