Gene: BRCA2 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515635
rs397515635
BRCA2
CTTAG 0.700 CausalMutation CLINVAR Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. 26787237

2016
dbSNP: rs397515635
rs397515635
BRCA2
CTTAG 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: rs41293513
rs41293513
BRCA2
C 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: rs41293513
rs41293513
BRCA2
G 0.700 CausalMutation CLINVAR In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample. 27886673

2016
dbSNP: rs587781471
rs587781471
BRCA2
G 0.700 CausalMutation CLINVAR Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel. 27157322

2016
dbSNP: rs587781629
rs587781629
BRCA2
A 0.700 CausalMutation CLINVAR Prospective phase II trial of trabectedin in BRCA-mutated and/or BRCAness phenotype recurrent ovarian cancer patients: the MITO 15 trial. 26681678

2016
dbSNP: rs587781629
rs587781629
BRCA2
A 0.700 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2016
dbSNP: rs587781803
rs587781803
BRCA2
A 0.700 GeneticVariation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2016
dbSNP: rs80358452
rs80358452
BRCA2
G 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: rs80358650
rs80358650
BRCA2
A 0.700 CausalMutation CLINVAR Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants. 26913838

2016
dbSNP: rs80358692
rs80358692
BRCA2
T 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: rs80358809
rs80358809
BRCA2
A 0.700 CausalMutation CLINVAR Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools. 26761715

2016
dbSNP: rs80358815
rs80358815
BRCA2
A 0.700 CausalMutation CLINVAR Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients. 26483394

2016
dbSNP: rs80358824
rs80358824
BRCA2
A 0.700 CausalMutation CLINVAR A Survey of BRCA1, BRCA2, and PALB2 mutations in women with breast cancer in Trinidad and Tobago. 27469594

2016
dbSNP: rs80358871
rs80358871
BRCA2
A 0.700 CausalMutation CLINVAR Multidisciplinary team for elucidation of any new mutation and how this approach can be useful to individualize any genetic result: the case of BRCA2 c.631G>A/c.7008-2A>T genotype Response to: Nagy PL, Mansukhani M. The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations. Expert Rev Mol Diagn 2015;15(9):1101-5. 27125725

2016
dbSNP: rs80358893
rs80358893
BRCA2
G 0.700 CausalMutation CLINVAR Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations. 27425403

2016
dbSNP: rs80359011
rs80359011
BRCA2
A 0.700 CausalMutation CLINVAR Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study. 27062684

2016
dbSNP: rs80359013
rs80359013
BRCA2
A 0.700 CausalMutation CLINVAR Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. 26187060

2016
dbSNP: rs80359035
rs80359035
BRCA2
T 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: rs80359035
rs80359035
BRCA2
T 0.700 GeneticVariation CLINVAR Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. 26187060

2016
dbSNP: rs80359071
rs80359071
BRCA2
A 0.700 CausalMutation CLINVAR Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. 26824983

2016
dbSNP: rs80359200
rs80359200
BRCA2
G 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: rs80359302
rs80359302
BRCA2
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: rs80359328
rs80359328
BRCA2
GA 0.700 CausalMutation CLINVAR Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients. 27406733

2016
dbSNP: rs80359372
rs80359372
BRCA2
C 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