Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs55770810
rs55770810
0.800 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs55770810
rs55770810
0.800 GeneticVariation UNIPROT

dbSNP: rs28897672
rs28897672
0.770 GeneticVariation BEFREE To estimate the proportion of ovarian cancers in Belarus, which are dependent on BRCA1 Slavic founder mutations, we sought the presence of three most frequent mutations (BRCA1: 5382insC, C61G and, 4153delA) in 158 consecutive unselected cases of ovarian cancer. 24770866

2015

dbSNP: rs28897672
rs28897672
0.770 GeneticVariation BEFREE While the Cys61Gly mutation appeared underrepresented in ovarian cancer as compared with breast cancer cases from the same population (p = 0.01), the 4153delA mutation made a higher contribution to ovarian cancer than to breast cancer (p < 0.01). 20569256

2011

dbSNP: rs28897672
rs28897672
0.770 GeneticVariation BEFREE We identified a founder mutation (4153delA, 5382insC or C61G) in 6% of 235 unselected cases of breast cancer and in 19% of 43 unselected cases of ovarian cancer. 20345474

2011

dbSNP: rs28897672
rs28897672
0.770 GeneticVariation BEFREE Our analysis shows that testing of 4153delA, 5382insC, C61G BRCA1 mutations should be extremely effective and inexpensive tool in testing Lithuanian population aimed to identify individuals with high risk of breast and ovarian cancers. 16261409

2007

dbSNP: rs28897672
rs28897672
0.770 GeneticVariation BEFREE The risk for breast cancer was 42% higher among first degree relatives of carriers of the C61G missense mutation compared to other mutations (HR = 1.42; p = 0.10) and the risk for ovarian cancer was lower than average (OR = 0.26; p = 0.03). 16227521

2006

dbSNP: rs28897672
rs28897672
0.770 GeneticVariation BEFREE Three mutations in BRCA1 (5382insC, C61G and 4153delA) are common in Poland and account for the majority of mutations identified to date in Polish breast and breast-ovarian cancer families. 15146557

2004

dbSNP: rs28897672
rs28897672
0.770 GeneticVariation BEFREE Our study was conducted in order to estimate the prevalence of any of 3 founder BRCA1 mutations (5382insC, C61G and 4153delA) in 364 unselected women with ovarian cancer, and among 177 women with ovarian cancer and a family history of breast or ovarian cancer. 12918074

2003

dbSNP: rs28897672
rs28897672
0.770 GeneticVariation UNIPROT

dbSNP: rs121913279
rs121913279
0.710 GeneticVariation BEFREE We also found that an activating (E545K) Pik3ca mutation, unlike Pten inactivation or Pik3ca H1047R mutation, cannot cooperate with Arid1a loss to promote ovarian cancer development in the mouse. 26279473

2016

dbSNP: rs1800751
rs1800751
0.710 GeneticVariation BEFREE The present study investigated the impact on splicing of the variant BRCA1 c.5434C-->G (p.Pro1812Ala), identified in an ovarian cancer patient. 20522429

2010

dbSNP: rs121913279
rs121913279
0.710 GeneticVariation UNIPROT

dbSNP: rs1800751
rs1800751
0.710 GeneticVariation UNIPROT

dbSNP: rs80356898
rs80356898
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs80357438
rs80357438
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs80357828
rs80357828
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs28933370
rs28933370
0.700 GeneticVariation UNIPROT Patterns of somatic mutation in human cancer genomes. 17344846

2007

dbSNP: rs121913286
rs121913286
0.700 GeneticVariation UNIPROT Mutation of the PIK3CA gene in ovarian and breast cancer. 15520168

2004

dbSNP: rs28933370
rs28933370
0.700 GeneticVariation UNIPROT Lung cancer: intragenic ERBB2 kinase mutations in tumours. 15457249

2004

dbSNP: rs372000848
rs372000848
0.700 GeneticVariation UNIPROT Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility. 14684699

2004

dbSNP: rs121913340
rs121913340
0.700 GeneticVariation UNIPROT Mutations of the BRAF gene in human cancer. 12068308

2002

dbSNP: rs113954997
rs113954997
0.700 GeneticVariation UNIPROT A human oncogene of the RAS superfamily unmasked by expression cDNA cloning. 8052619

1994

dbSNP: rs121913403
rs121913403
0.700 GeneticVariation UNIPROT

dbSNP: rs121913413
rs121913413
0.700 GeneticVariation UNIPROT