Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358721
rs80358721
BRCA2
G 0.700 CausalMutation CLINVAR Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds. 29371908

2018
dbSNP: rs80358721
rs80358721
BRCA2
G 0.700 CausalMutation CLINVAR Implementation and utilization of the molecular tumor board to guide precision medicine. 28915716

2017
dbSNP: rs80358721
rs80358721
BRCA2
G 0.700 CausalMutation CLINVAR Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. 28973083

2017
dbSNP: rs80358721
rs80358721
BRCA2
G 0.700 CausalMutation CLINVAR Malignant Brenner tumor associated with a germline BRCA2 mutation. 28616458

2017
dbSNP: rs80358721
rs80358721
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: rs80358721
rs80358721
BRCA2
G 0.700 CausalMutation CLINVAR Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis. 27376475

2016
dbSNP: rs80358721
rs80358721
BRCA2
G 0.700 CausalMutation CLINVAR Resistance to therapy in BRCA2 mutant cells due to loss of the nucleosome remodeling factor CHD4. 25737278

2015
dbSNP: rs80358721
rs80358721
BRCA2
G 0.700 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
dbSNP: rs80358721
rs80358721
BRCA2
G 0.700 CausalMutation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189

2014
dbSNP: rs80358721
rs80358721
BRCA2
G 0.700 CausalMutation CLINVAR Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. 25085752

2014
dbSNP: rs80358721
rs80358721
BRCA2
G 0.700 CausalMutation CLINVAR Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. 23569316

2013
dbSNP: rs80358721
rs80358721
BRCA2
G 0.700 CausalMutation CLINVAR BRCA1/2 mutation analysis in 41 ovarian cell lines reveals only one functionally deleterious BRCA1 mutation. 23415752

2013
dbSNP: rs80358721
rs80358721
BRCA2
G 0.700 CausalMutation CLINVAR Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ. 22009639

2012
dbSNP: rs80358721
rs80358721
BRCA2
G 0.700 CausalMutation CLINVAR EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients. 21120943

2011
dbSNP: rs80358721
rs80358721
BRCA2
G 0.700 CausalMutation CLINVAR Secondary mutations of BRCA1/2 and drug resistance. 21205087

2011
dbSNP: rs80358721
rs80358721
BRCA2
G 0.700 CausalMutation CLINVAR Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma. 19654294

2009
dbSNP: rs80358721
rs80358721
BRCA2
G 0.700 CausalMutation CLINVAR Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer. 17688236

2007