Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359152
rs80359152
BRCA2
A 0.700 GeneticVariation CLINVAR Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches. 29394989

2018
dbSNP: rs80359152
rs80359152
BRCA2
A 0.700 GeneticVariation CLINVAR Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil. 27223485

2016
dbSNP: rs80359152
rs80359152
BRCA2
A 0.700 GeneticVariation CLINVAR Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity. 27553368

2016
dbSNP: rs80359152
rs80359152
BRCA2
A 0.700 GeneticVariation CLINVAR Complete pathological response following neoadjuvant FOLFIRINOX in borderline resectable pancreatic cancer - a case report and review. 27724927

2016
dbSNP: rs80359152
rs80359152
BRCA2
A 0.700 GeneticVariation CLINVAR Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX. 25628955

2015
dbSNP: rs80359152
rs80359152
BRCA2
A 0.700 GeneticVariation CLINVAR A targeted analysis identifies a high frequency of BRCA1 and BRCA2 mutation carriers in women with ovarian cancer from a founder population. 25884701

2015
dbSNP: rs80359152
rs80359152
BRCA2
A 0.700 GeneticVariation CLINVAR Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants. 24123850

2014
dbSNP: rs80359152
rs80359152
BRCA2
A 0.700 GeneticVariation CLINVAR Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. 25085752

2014
dbSNP: rs80359152
rs80359152
BRCA2
A 0.700 GeneticVariation CLINVAR A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. 23108138

2013
dbSNP: rs80359152
rs80359152
BRCA2
A 0.700 GeneticVariation CLINVAR Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay. 22678057

2012
dbSNP: rs80359152
rs80359152
BRCA2
A 0.700 GeneticVariation CLINVAR BRCA2 localization to the midbody by filamin A regulates cep55 signaling and completion of cytokinesis. 22771033

2012
dbSNP: rs80359152
rs80359152
BRCA2
A 0.700 GeneticVariation CLINVAR Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes. 22632462

2012
dbSNP: rs80359152
rs80359152
BRCA2
A 0.700 GeneticVariation CLINVAR The BRCA2 c.9004G>A (E2002K) [corrected] variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent. 21947752

2012
dbSNP: rs80359152
rs80359152
BRCA2
A 0.700 GeneticVariation CLINVAR Comprehensive BRCA1 and BRCA2 mutation analyses and review of French Canadian families with at least three cases of breast cancer. 20694749

2010
dbSNP: rs80359152
rs80359152
BRCA2
A 0.700 GeneticVariation CLINVAR Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. 19043619

2008
dbSNP: rs80359152
rs80359152
BRCA2
A 0.700 GeneticVariation CLINVAR BRCA1-2 mutations in breast cancer: identification of nine new variants of BRCA1-2 genes in a population from central Western Spain. 15876480

2006
dbSNP: rs80359152
rs80359152
BRCA2
A 0.700 CausalMutation CLINVAR