Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea. 28364669

2017
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402

2014
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376

2014
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition. 21473589

2011
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131

2008
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. 18285836

2008
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274

2007
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. 14722926

2004
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. 15133502

2004
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. 12938098

2003
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Structural consequences of a cancer-causing BRCA1-BRCT missense mutation. 12427738

2003
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico. 12442275

2002
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. 11301010

2001
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress. 11114888

2000
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan. 10323242

1999
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening. 9482581

1998
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene. 9760198

1998
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations. 8776600

1996
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Mutations in the BRCA1 gene in Japanese breast cancer patients. 8723683

1996
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. 7545954

1994
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. 7894491

1994
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. 7894493

1994
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT BRCA1 mutations in primary breast and ovarian carcinomas. 7939630

1994