×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
CausalMutation
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
0.760
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
0.760
CausalMutation
disease
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
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
CausalMutation
disease
CLINVAR
Inherited Mutations in Women With Ovarian Carcinoma.
26720728
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
GeneticVariation
disease
BEFREE
Biallelic BRIP1 mutations were recently shown to cause Fanconi anemia complementation group J .
17033622
2006
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
GeneticVariation
disease
CLINVAR
BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ.
16153896
2005
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
GeneticVariation
disease
CLINVAR
Inherited Mutations in Women With Ovarian Carcinoma.
26720728
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
CausalMutation
disease
CLINVAR
A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer.
19127258
2009
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
CausalMutation
disease
CLINVAR
Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.
24556621
2014
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
CausalMutation
disease
CLINVAR
Patterns and functional implications of rare germline variants across 12 cancer types.
26689913
2015
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
CausalMutation
disease
CLINVAR
Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1.
21345144
2011
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
GeneticVariation
disease
CLINVAR
Germline Variants of Prostate Cancer in Japanese Families.
27701467
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
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
0.760
CausalMutation
disease
CLINVAR
Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.
27443514
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
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
0.760
GeneticVariation
disease
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
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
CausalMutation
disease
CLINVAR
The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.
28961279
2017
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
GeneticVariation
disease
CLINVAR
The DNA repair helicases XPD and FancJ have essential iron-sulfur domains.
16973432
2006
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
GeneticVariation
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
0.760
Biomarker
disease
CLINGEN
Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1 , also called FANCJ .
16116423
2005
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
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
0.760
CausalMutation
disease
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
0.760
Biomarker
disease
GENOMICS_ENGLAND
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.
16116424
2005
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
GeneticVariation
disease
UNIPROT
Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1 , also called FANCJ .
16116423
2005
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
CausalMutation
disease
CLINVAR
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
24763289
2014