|
rs80357086
|
|
Malignant Neoplasms
|
|
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
|
|
Malignant Neoplasms
|
|
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 |
|
rs80356991
|
|
Malignant Neoplasms
|
|
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 |
|
rs799917
|
|
Malignant Neoplasms
|
|
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 |
|
rs1799966
|
|
Malignant Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
The purpose of this meta-analysis is to evaluate the relationship between BRCA1 polymorphisms (rs799917, rs1799950, rs1799966, or rs16941) and cancer risk.
|
29492227 |
2018 |
|
rs16941
|
|
Malignant Neoplasms
|
|
0.020 |
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 |
|
rs1799950
|
|
Malignant Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
The purpose of this meta-analysis is to evaluate the relationship between BRCA1 polymorphisms (rs799917, rs1799950, rs1799966, or rs16941) and cancer risk.
|
29492227 |
2018 |
|
rs799917
|
|
Malignant Neoplasms
|
|
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
|
|
Malignant Neoplasms
|
|
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 |
|
rs45553935
|
|
Malignant Neoplasms
|
|
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 |
|
rs397509239
|
|
Malignant Neoplasms
|
|
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
|
|
Malignant Neoplasms
|
|
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
|
|
Malignant Neoplasms
|
|
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 |
|
rs80356913
|
|
Malignant Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels.
|
21863257 |
2011 |
|
rs397508938
|
|
Malignant Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels.
|
21863257 |
2011 |
|
rs28897672
|
|
Malignant Neoplasms
|
|
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
|
|
Malignant Neoplasms
|
|
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 |
|
rs80357432
|
|
Malignant Neoplasms
|
|
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 |
|
rs886039925
|
|
Malignant Neoplasms
|
|
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 |
|
rs799917
|
|
Malignant Neoplasms
|
|
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 |
|
rs41293459
|
|
Malignant Neoplasms
|
|
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
|
|
Malignant Neoplasms
|
|
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 |
|
rs1799966
|
|
Malignant Neoplasms
|
|
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 |
|
rs786203797
|
|
Malignant Neoplasms
|
|
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
|
|
Malignant Neoplasms
|
|
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 |