|
rs80357906
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Notably, although variant rs80357906 (5382InsC) has been reported as a risk factor for hereditary BC, it was not significantly associated with breast cancer risk in our population (p = 0.192).
|
30611917 |
2019 |
|
rs863224765
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Nevertheless, comprehensive studies of mutation G1770V in large series of BC patients from Morocco are needed to assess the real prevalence of this mutation and to improve genetic testing and risk assessment in this population.
|
26864382 |
2016 |
|
rs799917
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In summary, based on the overall results, this meta-analysis strongly suggests that the BRCA1 rs799917 polymorphism is not associated with breast cancer risk.
|
25194442 |
2014 |
|
rs799917
|
|
|
0.060 |
GeneticVariation |
BEFREE |
BRCA1polymorphisms rs799917 and rs1799966 were not significantly associated with BC risk in this meta-analysis.
|
30832521 |
2019 |
|
rs799917
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Joint effect analyses indicated that all the variant genotypes of ZNF350 polymorphisms accounted for increased breast cancer risk among subjects carrying variant homozygote of BRCA1 rs799917, particularly for ZNF350 rs4986773 (OR = 2.03, 95%CI = 1.02-4.05, the test for gene-gene interaction P (int) = 0.059).
|
19484476 |
2009 |
|
rs799917
|
|
|
0.060 |
GeneticVariation |
BEFREE |
To assess whether target SNPs are implicated in BC susceptibility, we conducted a case-control population study and observed that germline occurrence of rs799917-BRCA1 and rs334348-TGFR1 significantly varies among populations with different risks of developing BC.
|
20332227 |
2010 |
|
rs799917
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis that non-conservative amino acid exchanges in WRN (leu1074Phe), BLM (Met298Thr) and BRCA1 (Pro871Leu) are independently or jointly associated with the risk of breast cancer in Chinese women.
|
19205873 |
2009 |
|
rs799917
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Statistically significant correlations were identified between 4 single nucleotide polymorphisms and the breast cancer risk: rs25487 rs4987188 rs13181 and rs799917.
|
29209986 |
2019 |
|
rs1799950
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family.
|
11836613 |
2002 |
|
rs1799950
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Conversely, the BRCA1 Q356R and BRCA2 203G>A polymorphisms did not show any significant associations with breast cancer risk.
|
18288416 |
2008 |
|
rs1799950
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our meta-analysis also indicated that rs1799950 could decrease the breast cancer (BC) risk among Caucasian populations in the homozygote and recessive models.
|
29492227 |
2018 |
|
rs16942
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Women carrying the rare allele of single nucleotide polymorphism rs16942 on the wild-type copy of BRCA1 were at decreased risk of breast cancer (hazard ratio 0.86, 95% confidence interval 0.77-0.95, P = 0.003).
|
21890493 |
2011 |
|
rs16942
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Polymorphic coding and noncoding variants were transmitted in each family's relatives with a frequency ranging from 42 to 100%, with similar rate for each SNP in mutated and nonmutated families with the only exception of BRCA1 K1183R significantly more frequent in mutated families (P = 0.004); conversely, this SNP and BRCA2 N372H, were more frequently present in breast cancer relatives belonging to families in which pathological BRCA mutations were not present.
|
20352487 |
2011 |
|
rs1799966
|
|
|
0.020 |
GeneticVariation |
BEFREE |
BRCA1polymorphisms rs799917 and rs1799966 were not significantly associated with BC risk in this meta-analysis.
|
30832521 |
2019 |
|
rs1799966
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population.
|
24933103 |
2014 |
|
rs747364414
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We also analyzed the effect of combined genotypes among RAD51-135G>C, Thr241Met, and E233G polymorphisms on BC risk.
|
20054644 |
2010 |
|
rs747364414
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The novel variant E233G in RAD51D is more highly represented in high-risk, site-specific, familial breast cancer cases that are not associated with the BRCA1/2 genes, with a frequency of 5.74% (n = 174) compared to a control population (n = 567) and another subset of breast cancer patients (n = 765) with a prevalence of around 2% only (comparison to controls, OR = 2.6, 95% CI 1.12-6.03; p < 0.021).
|
15170666 |
2004 |
|
rs80357060
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The HER2 I655V polymorphism and breast cancer risk in Ashkenazim.
|
14569185 |
2003 |
|
rs80357060
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Human ERBB2 presents several SNPs.One of these, Ile655Val, introduces a structural change in the transmembrane region of ERBB2 and has been the focus of debate over its potential role as a susceptibility marker for breast cancer risk.
|
17452776 |
2007 |
|
rs80357125
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These results suggest that the contribution of the BARD1 germline variants to breast cancer predisposition is very limited, and that neither Cys557Ser nor Val507Met have an effect on familial breast cancer susceptibility.
|
16333312 |
2006 |
|
rs80357125
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Genetic polymorphism of BARD1 (Val/Met 507) could be useful in the selection of postmenopausal women at a high risk for developing breast cancer.
|
14550946 |
2003 |
|
rs80357610
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In addition, using a case-control design we studied the XRCC3-Thr241Met, and RAD51D-E233G polymorphisms in 267 BC cases and 500 controls to evaluate their possible association with BC susceptibility.
|
20054644 |
2010 |
|
rs80357610
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We can conclude that XRCC3 Thr241Met polymorphism might be associated with breast cancer risk, especially in Asian populations and in patients without family history of breast cancer.
|
26498491 |
2015 |
|
rs80357796
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family.
|
11836613 |
2002 |
|
rs80357796
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Conversely, the BRCA1 Q356R and BRCA2 203G>A polymorphisms did not show any significant associations with breast cancer risk.
|
18288416 |
2008 |