×
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
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
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
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
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
GeneticVariation
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
GeneticVariation
disease
CLINVAR
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing.
20616022
2010
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
GeneticVariation
disease
CLINVAR
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.
16116424
2005
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
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
0.760
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
0.760
GeneticVariation
disease
CLINVAR
Integrated analysis of germline and somatic variants in ovarian cancer.
24448499
2014
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
GeneticVariation
disease
CLINVAR
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.
22006311
2011
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
GeneticVariation
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
GeneticVariation
disease
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
0.760
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
0.760
GeneticVariation
disease
UNIPROT
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
GeneticVariation
disease
CLINVAR
Monogenic and polygenic determinants of sarcoma risk: an international genetic study.
27498913
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
GeneticVariation
disease
CLINVAR
Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.
26270727
2015
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
GeneticVariation
disease
CLINVAR
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
GeneticVariation
disease
CLINVAR
Mutational analysis of FANCJ helicase.
27107905
2016
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.760
GeneticVariation
disease
CLINVAR
Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control.
21127055
2011