Gene: BRIP1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs574552037
rs574552037
BRIP1
C 0.700 CausalMutation CLINVAR Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 28152038

2017
dbSNP: rs587780228
rs587780228
BRIP1
A 0.700 CausalMutation CLINVAR Pathologic findings in breast, fallopian tube, and ovary specimens in non-BRCA hereditary breast and/or ovarian cancer syndromes: a study of 18 patients with deleterious germline mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH, or CHEK2. 28709830

2017
dbSNP: rs730881633
rs730881633
BRIP1
A 0.700 CausalMutation CLINVAR Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes. 28495237

2017
dbSNP: rs786203717
rs786203717
BRIP1
C 0.700 CausalMutation CLINVAR Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer. 28423363

2017
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: rs149364097
rs149364097
BRIP1
G 0.700 GeneticVariation CLINVAR Analysis of BRIP1 Variants among Korean Patients with BRCA1/2 Mutation-Negative High-Risk Breast Cancer. 26790966

2016
dbSNP: rs149364097
rs149364097
BRIP1
G 0.700 GeneticVariation CLINVAR Mutational analysis of FANCJ helicase. 27107905

2016
dbSNP: rs574552037
rs574552037
BRIP1
C 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs574552037
rs574552037
BRIP1
C 0.700 CausalMutation CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728

2016
dbSNP: rs587780228
rs587780228
BRIP1
A 0.700 CausalMutation CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728

2016
dbSNP: rs587780228
rs587780228
BRIP1
A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs587780236
rs587780236
BRIP1
TA 0.700 CausalMutation CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846

2016
dbSNP: rs587780236
rs587780236
BRIP1
TA 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs587780240
rs587780240
BRIP1
TA 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs587781321
rs587781321
BRIP1
T 0.700 CausalMutation CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728

2016
dbSNP: rs587781321
rs587781321
BRIP1
T 0.700 CausalMutation CLINVAR Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. 26786923

2016
dbSNP: rs587781416
rs587781416
BRIP1
GT 0.700 CausalMutation CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728

2016
dbSNP: rs730881633
rs730881633
BRIP1
A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs730881649
rs730881649
BRIP1
C 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs752309409
rs752309409
BRIP1
A 0.700 GeneticVariation CLINVAR Fanconi anemia in 55-year-old identical twins first presenting as fatal post-chemotherapy pancytopenia. 27427815

2016
dbSNP: rs752309409
rs752309409
BRIP1
A 0.700 GeneticVariation CLINVAR Near-atomic resolution visualization of human transcription promoter opening. 27193682

2016
dbSNP: rs775171520
rs775171520
BRIP1
T 0.700 CausalMutation CLINVAR Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. 26824983

2016
dbSNP: rs778664039
rs778664039
BRIP1
A 0.700 GeneticVariation CLINVAR Germline Variants of Prostate Cancer in Japanese Families. 27701467

2016
dbSNP: rs779466229
rs779466229
BRIP1
C 0.700 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
dbSNP: rs780020495
rs780020495
BRIP1
A 0.700 CausalMutation CLINVAR Understanding the Significance of Mutations in Tumor Suppressor Genes Identified Using Next-Generation Sequencing: A Case Report. 27462233

2016