Gene: BRIP1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852986
rs137852986
BRIP1
0.710 GeneticVariation BEFREE These results suggest that truncating variants in BRIP1, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk. 26921362

2016
dbSNP: rs137852986
rs137852986
BRIP1
A 0.710 CausalMutation CLINVAR

dbSNP: rs1292988272
rs1292988272
BRIP1
T 0.700 GeneticVariation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827

2018
dbSNP: rs368796923
rs368796923
BRIP1
A 0.700 GeneticVariation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827

2018
dbSNP: rs775537066
rs775537066
BRIP1
CA 0.700 CausalMutation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827

2018
dbSNP: rs368796923
rs368796923
BRIP1
A 0.700 GeneticVariation CLINVAR Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 28152038

2017
dbSNP: rs587780228
rs587780228
BRIP1
A 0.700 CausalMutation CLINVAR Pathologic findings in breast, fallopian tube, and ovary specimens in non-BRCA hereditary breast and/or ovarian cancer syndromes: a study of 18 patients with deleterious germline mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH, or CHEK2. 28709830

2017
dbSNP: rs587780228
rs587780228
BRIP1
A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs587780236
rs587780236
BRIP1
TA 0.700 CausalMutation CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846

2016
dbSNP: rs587780236
rs587780236
BRIP1
TA 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs587780833
rs587780833
BRIP1
T 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs756853672
rs756853672
BRIP1
A 0.700 GeneticVariation CLINVAR No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. 26921362

2016
dbSNP: rs775171520
rs775171520
BRIP1
T 0.700 CausalMutation CLINVAR Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. 26824983

2016
dbSNP: rs775537066
rs775537066
BRIP1
CA 0.700 CausalMutation CLINVAR No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. 26921362

2016
dbSNP: rs786203700
rs786203700
BRIP1
C 0.700 GeneticVariation CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728

2016
dbSNP: rs1057519365
rs1057519365
BRIP1
A 0.700 CausalMutation CLINVAR Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500

2015
dbSNP: rs1555616143
rs1555616143
BRIP1
A 0.700 CausalMutation CLINVAR Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. 25186627

2015
dbSNP: rs1567878148
rs1567878148
BRIP1
TA 0.700 CausalMutation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354

2015
dbSNP: rs587780833
rs587780833
BRIP1
T 0.700 GeneticVariation CLINVAR Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. 26270727

2015
dbSNP: rs756853672
rs756853672
BRIP1
A 0.700 GeneticVariation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354

2015
dbSNP: rs775537066
rs775537066
BRIP1
CA 0.700 CausalMutation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354

2015
dbSNP: rs137852985
rs137852985
BRIP1
0.700 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376

2014
dbSNP: rs137852985
rs137852985
BRIP1
0.700 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402

2014
dbSNP: rs1057519365
rs1057519365
BRIP1
A 0.700 CausalMutation CLINVAR Mutations in BRIP1 confer high risk of ovarian cancer. 21964575

2011
dbSNP: rs1060501774
rs1060501774
BRIP1
A 0.700 GeneticVariation CLINVAR Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control. 21127055

2011