Gene: BRIP1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.490 GeneticVariation disease CLINVAR A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function. 18628483 2008
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.490 GeneticVariation disease CLINVAR Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control. 21127055 2011
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.490 Biomarker disease BEFREE Ovarian tumors from heterozygous carriers of the Icelandic mutation show loss of the wild-type allele, indicating that BRIP1 behaves like a classical tumor suppressor gene in ovarian cancer. 21964575 2011
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.490 GeneticVariation disease GWASCAT Ovarian tumors from heterozygous carriers of the Icelandic mutation show loss of the wild-type allele, indicating that BRIP1 behaves like a classical tumor suppressor gene in ovarian cancer. 21964575 2011
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.490 CausalMutation disease CLINVAR The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 16116423 2005
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 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 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 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 Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354 2015
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.490 GeneticVariation disease CLINVAR Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes. 20639400 2010
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 BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control. 20159562 2010
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 GeneticVariation disease BEFREE We found an increased frequency of deleterious mutations in BRIP1 in case patients (0.9%) and in the UKFOCSS participants (0.6%) compared with control patients (0.09%) (P = 1 x 10(-4) and 8 x 10(-4), respectively), but no differences for BARD1 (P = .39), NBN1 ( P = .61), or PALB2 (P = .08). 26315354 2015
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.490 GeneticVariation disease CLINVAR The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 16116424 2005
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