Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Insight into the roles of helicase motif Ia by characterizing Fanconi anemia group J protein (FANCJ) patient mutations. 24573678

2014

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1. 21345144

2011

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 16116423

2005

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control. 20159562

2010

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Integrated analysis of germline and somatic variants in ovarian cancer. 24448499

2014

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327

2014

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. 17033622

2006

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort. 19763819

2010

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 28152038

2017

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. 17033622

2006

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 16116423

2005

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Mutations in BRIP1 confer high risk of ovarian cancer. 21964575

2011

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Near-atomic resolution visualization of human transcription promoter opening. 27193682

2016

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families. 22692731

2012

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. 20068231

2010

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control. 21127055

2011

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. 15285897

2004

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR FANCJ/BACH1 acetylation at lysine 1249 regulates the DNA damage response. 22792074

2012

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Discovering moderate-risk breast cancer susceptibility genes. 20346647

2010

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 16116424

2005

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Germline Variants of Prostate Cancer in Japanese Families. 27701467

2016