Gene: BRCA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397508938
rs397508938
BRCA1
0.010 GeneticVariation BEFREE BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels. 21863257

2011
dbSNP: rs750275408
rs750275408
BRCA1
0.010 GeneticVariation BEFREE We have previously reported BRCA1 proteins unlike K109R and cancer-predisposing mutant C61G to bind Ubc9 and modulate ER-α turnover. 21344391

2011
dbSNP: rs80356913
rs80356913
BRCA1
0.010 GeneticVariation BEFREE BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels. 21863257

2011
dbSNP: rs80357432
rs80357432
BRCA1
0.010 GeneticVariation BEFREE Another two polymorphisms, c.212-58A>C and c.2014G>C (E672Q) were always detected together, both in cancer (7.5% of patients) and control samples (4.9% of controls, p = 0.2). 20122277

2010
dbSNP: rs886039925
rs886039925
BRCA1
0.010 GeneticVariation BEFREE Here we show that ER-alpha proteins with single or double lysine mutations of these motifs (including K303R, a cancer-associated mutant) are resistant to inhibition by BRCA1, even though the mutant ER-alpha proteins retain the ability to bind to BRCA1. 19887647

2010
dbSNP: rs28897696
rs28897696
BRCA1
0.010 GeneticVariation BEFREE The results also raise the possibility that A1708V and R1699Q may be associated with a low or moderate risk of cancer. 18036263

2007
dbSNP: rs80357610
rs80357610
BRCA1
0.010 GeneticVariation BEFREE We suggest that the inability of XRCC3 T241M to apoptotically eliminate aberrant cells with mitotic defects could increase cancer susceptibility in individuals carrying this variant. 16505003

2006