Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357150
rs80357150
T 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018

dbSNP: rs80357150
rs80357150
A 0.700 GeneticVariation CLINVAR Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer. 28944232

2017

dbSNP: rs80357150
rs80357150
A 0.700 GeneticVariation CLINVAR Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort. 27495310

2017

dbSNP: rs80357150
rs80357150
T 0.700 CausalMutation CLINVAR Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers. 29255180

2017

dbSNP: rs80357150
rs80357150
T 0.700 CausalMutation CLINVAR Efficacy of amelogenin-chitosan hydrogel in biomimetic repair of human enamel in pH-cycling systems. 27331142

2016

dbSNP: rs80357150
rs80357150
A 0.700 GeneticVariation CLINVAR Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. 27272900

2016

dbSNP: rs80357150
rs80357150
A 0.700 GeneticVariation CLINVAR Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. 25823446

2015

dbSNP: rs80357150
rs80357150
T 0.700 CausalMutation CLINVAR Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing. 26052455

2015

dbSNP: rs80357150
rs80357150
T 0.700 CausalMutation CLINVAR Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations. 25348012

2014

dbSNP: rs80357150
rs80357150
A 0.700 GeneticVariation 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: rs80357150
rs80357150
T 0.700 CausalMutation CLINVAR Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO). 22762150

2012

dbSNP: rs80357150
rs80357150
T 0.700 CausalMutation CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907

2011

dbSNP: rs80357150
rs80357150
T 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: rs80357150
rs80357150
A 0.700 GeneticVariation CLINVAR Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast. 21922593

2011

dbSNP: rs80357150
rs80357150
T 0.700 CausalMutation CLINVAR CpG/CpNpG motifs in the coding region are preferred sites for mutagenesis in the breast cancer susceptibility genes. 17826769

2007

dbSNP: rs80357150
rs80357150
T 0.700 CausalMutation CLINVAR Lack of HIN-1 methylation defines specific breast tumor subtypes including medullary carcinoma of the breast and BRCA1-linked tumors. 14614327

2004

dbSNP: rs80357150
rs80357150
T 0.700 CausalMutation CLINVAR Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families. 12360411

2002

dbSNP: rs80357150
rs80357150
T 0.700 CausalMutation CLINVAR Variation in BRCA1 cancer risks by mutation position. 11927492

2002

dbSNP: rs80357150
rs80357150
T 0.700 CausalMutation CLINVAR Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations. 10644434

1999

dbSNP: rs80357150
rs80357150
T 0.700 CausalMutation CLINVAR p53 mutations in BRCA1-associated familial breast cancer. 9746028

1998

dbSNP: rs80357150
rs80357150
T 0.700 CausalMutation CLINVAR BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group. 9150149

1997

dbSNP: rs80357150
rs80357150
T 0.700 CausalMutation CLINVAR Breast cancer and BRCA1 mutations. 8602198

1996