|
rs80356913
|
|
|
0.010 |
GeneticVariation |
BEFREE |
BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels.
|
21863257 |
2011 |
|
rs80356991
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two BRCA1 variants, R133H and E143K, and a RACK1 variant, K280E, associated with cancer, which weakened the BRCA1-RACK1 interaction, interfered with the centrosomal localization of BRCA1 and reduced centrosome amplification induced by overexpression of RACK1.
|
30617304 |
2019 |
|
rs80357086
|
|
|
0.010 |
GeneticVariation |
BEFREE |
<b>Conclusions:</b> A high proportion of Japanese HBOC patients showed the <i>BRCA1</i> L63X mutation, and the clinical characteristics of breast cancer in patients with this mutation might differ from those in patients with other <i>BRCA1</i> or <i>BRCA2</i> mutations, in terms of the subtype and nuclear grade of the resultant cancer.
|
31143373 |
2019 |
|
rs80357357
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two BRCA1 variants, R133H and E143K, and a RACK1 variant, K280E, associated with cancer, which weakened the BRCA1-RACK1 interaction, interfered with the centrosomal localization of BRCA1 and reduced centrosome amplification induced by overexpression of RACK1.
|
30617304 |
2019 |
|
rs80357432
|
|
|
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 |
|
rs80357610
|
|
|
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 |
|
rs886039925
|
|
|
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 |