×
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Analysis of BRIP1 Variants among Korean Patients with BRCA1/2 Mutation-Negative High-Risk Breast Cancer.
26790966 2016
×
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
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
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Biogenesis of cytosolic and nuclear iron-sulfur proteins and their role in genome stability.
25583461 2015
×
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.
21409391 2011
×
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.
26911350 2016
×
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Discovering moderate-risk breast cancer susceptibility genes.
20346647 2010
×
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
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
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
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
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
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Fanconi anemia in 55-year-old identical twins first presenting as fatal post-chemotherapy pancytopenia.
27427815 2016
×
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
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
Neoplastic Syndromes, Hereditary
0.100
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
×
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
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
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
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
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
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Germline Variants of Prostate Cancer in Japanese Families.
27701467 2016
×
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
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
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1.
21345144 2011