|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs80356913
|
|
|
0.010 |
GeneticVariation |
BEFREE |
BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels.
|
21863257 |
2011 |
|
rs799917
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In conclusion, despite several limitations, this meta-analysis suggested that BRCA1 P871L genetic variation may be associated with decreased susceptibility to cancer.
|
28427168 |
2017 |
|
rs799917
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Genotyping of BRCA1 and BRCA2 in the Italian family revealed the presence of two significant polymorphisms: the cancer-associated c.2612C>T SNP in BRCA1, and the c.-26G>A SNP in the BRCA2 gene, acting as an ovarian cancer risk modifier in carriers of deleterious BRCA1 mutations.
|
19287957 |
2009 |
|
rs799917
|
|
|
0.030 |
GeneticVariation |
BEFREE |
However, subgroup analyses revealed that the rs799917 polymorphism could decrease the risk of cervical cancer, esophageal squamous cell carcinoma (ESCC), gastric cancer, and non-Hodgkin lymphoma (NHL) among Asian populations in one or more genetic models and that rs16941 could increase overall cancer risk among Caucasian populations in the homozygote and recessive models.
|
29492227 |
2018 |
|
rs786203797
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Thus we have no evidence that D213N increases the risk of cancer.
|
12668615 |
2003 |
|
rs786203797
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In contrast, cells carrying the XRCC3 D213N variant are able to eliminate aberrant cells by apoptosis, and consistent with this observation, this variant does not seem to be associated with cancer susceptibility.
|
16505003 |
2006 |
|
rs750275408
|
|
|
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 |
|
rs748876625
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The prevalence of 3 BRCA1 mutations (185delAG, 300T-->G and 5382insC) and 2 BRCA2 mutations (6174delT and 9326insA) was evaluated in a hospital-based consecutive series of 500 female breast cancer patients and 90 ovarian cancer patients, not selected for age at diagnosis or family history of cancer, as well as in 350 controls.
|
10797299 |
2000 |
|
rs748876625
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Screening for three mutations (5382insC, 4154delA and 300T>G) was carried out in 55 breast cancer and 66 ovarian cancer patients, and for two mutations, 5382insC and 4154delA, in 376 unselected patients with any cancer (including 51 breast cancer and 29 ovarian cancers) and 215 women with any gynaecological tumour.
|
15951956 |
2005 |
|
rs45553935
|
|
|
0.010 |
GeneticVariation |
BEFREE |
BRCA1 p.Val1736Ala cosegregated with cancer in multiple families, associated tumors showed loss of wild-type BRCA1, and BRCA1 p.Val1736Ala showed reduced DNA damage localization.
|
23269703 |
2013 |
|
rs41293459
|
|
|
0.020 |
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 |
|
rs41293459
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We previously showed that variant BRCA1 c.5096G>A p.Arg1699Gln in the BRCA1 transcriptional transactivation domain demonstrated equivocal results from a series of functional assays, and proposed that this variant may confer low to moderate risk of cancer.
|
22889855 |
2012 |
|
rs41293459
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We previously showed that variant BRCA1 c.5096G>A p.Arg1699Gln in the BRCA1 transcriptional transactivation domain demonstrated equivocal results from a series of functional assays, and proposed that this variant may confer low to moderate risk of cancer.
|
22889855 |
2012 |
|
rs397509239
|
|
|
0.010 |
GeneticVariation |
BEFREE |
BRCA1 p.Val1736Ala cosegregated with cancer in multiple families, associated tumors showed loss of wild-type BRCA1, and BRCA1 p.Val1736Ala showed reduced DNA damage localization.
|
23269703 |
2013 |
|
rs397508986
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, despite several limitations, this meta-analysis suggested that BRCA1 P871L genetic variation may be associated with decreased susceptibility to cancer.
|
28427168 |
2017 |
|
rs397508938
|
|
|
0.010 |
GeneticVariation |
BEFREE |
BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels.
|
21863257 |
2011 |
|
rs28897696
|
|
|
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 |
|
rs28897672
|
|
|
0.020 |
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 |
|
rs28897672
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The cancer-predisposing mutation C61G disrupts homodimer formation in the NH2-terminal BRCA1 RING finger domain.
|
9525870 |
1998 |