|
rs1800709
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Testing of a sample of 413 unrelated individuals to examine the hypothesis that R841W might be a rare polymorphism detected one additional instance in a woman with breast cancer diagnosed at age 77 years, and cancer in one parent.
|
8968716 |
1996 |
|
rs28897672
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The cancer-predisposing mutation C61G disrupts homodimer formation in the NH2-terminal BRCA1 RING finger domain.
|
9525870 |
1998 |
|
rs1800709
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The approach is demonstrated in two cancer data sets: BRCA1 R841W and APC I1307K.
|
9585599 |
1998 |
|
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 |
|
rs786203797
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Thus we have no evidence that D213N increases the risk of cancer.
|
12668615 |
2003 |
|
rs16941
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A significant increase in the cancer risk associated either with harboring one additional putative high-risk NHEJ genotype or with the joint effect of having reproductive risk factors (reflected by an interval of > or =12 years between menarche and first full-term pregnancy) and a higher number of high-risk genotypes of the NHEJ genes was only seen in women with at least one variant BRCA1 allele (i.e., the Glu/Gly or Gly/Gly forms of BRCA1 Glu(1038)Gly); and (b) a phenotype-based study measuring in vitro and in vivo NHEJ capacity showed that the precise end-joining capacity was different in breast cancer cell lines with different BRCA1 statuses being higher in BRCA1-expressing MCF-7 cells than in HCC1937 cells (defective BRCA1 expression).
|
15256476 |
2004 |
|
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 |
|
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 |
|
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 |
|
rs1799966
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We determined the predicted cancer association of 22 BRCA1 variants and verified that the common polymorphism S1613G has no effect on BRCA1 function, even when combined with other rare variants.
|
17308087 |
2007 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs397508938
|
|
|
0.010 |
GeneticVariation |
BEFREE |
BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels.
|
21863257 |
2011 |
|
rs80356913
|
|
|
0.010 |
GeneticVariation |
BEFREE |
BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels.
|
21863257 |
2011 |
|
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 |
|
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 |
|
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 |
|
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 |