Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441

2015
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. 25682074

2015
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR Functional characterization of BRCA1 gene variants by mini-gene splicing assay. 24667779

2014
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations. 23451180

2013
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers. 22430266

2012
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. 22144684

2012
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. 22505045

2012
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR Effects of BRCA1 and BRCA2 mutations on female fertility. 21993507

2012
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907

2011
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene. 18424508

2008
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients. 18284688

2008
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. 18159056

2007
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families. 16528604

2006
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR The breast cancer information core: database design, structure, and scope. 10923033

2000
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. 7894493

1994