Gene: BRIP1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1028347439
rs1028347439
BRIP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057517648
rs1057517648
BRIP1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517648
rs1057517648
BRIP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519365
rs1057519365
BRIP1
A 0.700 CausalMutation CLINVAR The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. 27165003

2016
dbSNP: rs1057519365
rs1057519365
BRIP1
A 0.700 CausalMutation CLINVAR Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500

2015
dbSNP: rs1057519365
rs1057519365
BRIP1
A 0.700 CausalMutation CLINVAR Mutations in BRIP1 confer high risk of ovarian cancer. 21964575

2011
dbSNP: rs1064795352
rs1064795352
BRIP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064795649
rs1064795649
BRIP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1257401983
rs1257401983
BRIP1
C 0.700 CausalMutation CLINVAR

dbSNP: rs137852986
rs137852986
BRIP1
A 0.700 CausalMutation CLINVAR Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. 17033622

2006
dbSNP: rs137852986
rs137852986
BRIP1
A 0.700 CausalMutation CLINVAR The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 16116424

2005
dbSNP: rs137852986
rs137852986
BRIP1
A 0.700 CausalMutation CLINVAR BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. 16153896

2005
dbSNP: rs137852986
rs137852986
BRIP1
A 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
dbSNP: rs137852986
rs137852986
BRIP1
A 0.700 CausalMutation CLINVAR A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer. 19127258

2009
dbSNP: rs137852986
rs137852986
BRIP1
A 0.700 CausalMutation CLINVAR Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease. 24556621

2014
dbSNP: rs137852986
rs137852986
BRIP1
A 0.700 CausalMutation CLINVAR The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 16116423

2005
dbSNP: rs137852986
rs137852986
BRIP1
A 0.700 CausalMutation CLINVAR Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1. 21345144

2011
dbSNP: rs137852986
rs137852986
BRIP1
A 0.700 CausalMutation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011
dbSNP: rs137852986
rs137852986
BRIP1
A 0.700 CausalMutation CLINVAR Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort. 19763819

2010
dbSNP: rs1400202829
rs1400202829
BRIP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1437158047
rs1437158047
BRIP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs149364097
rs149364097
BRIP1
G 0.700 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
dbSNP: rs149364097
rs149364097
BRIP1
G 0.700 GeneticVariation CLINVAR Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1. 21345144

2011
dbSNP: rs149364097
rs149364097
BRIP1
G 0.700 GeneticVariation CLINVAR The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 16116424

2005
dbSNP: rs149364097
rs149364097
BRIP1
G 0.700 GeneticVariation CLINVAR The DNA repair helicases XPD and FancJ have essential iron-sulfur domains. 16973432

2006