|
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 |
|
rs41293459
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The BRCA2 c.9104A>C, p.Tyr3035Ser (OR = 2.52; <i>P</i> = 0.04), and BRCA1 c.5096G>A, p.Arg1699Gln (OR = 4.29; <i>P</i> = 0.009) variant were associated with moderately increased risks of breast cancer among Europeans, whereas BRCA2 c.7522G>A, p.Gly2508Ser (OR = 2.68; <i>P</i> = 0.004), and c.8187G>T, p.Lys2729Asn (OR = 1.4; <i>P</i> = 0.004) were associated with moderate and low risks of breast cancer among Asians.
|
28283652 |
2017 |
|
rs41293459
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The BRCA2 c.9104A>C, p.Tyr3035Ser (OR = 2.52; <i>P</i> = 0.04), and BRCA1 c.5096G>A, p.Arg1699Gln (OR = 4.29; <i>P</i> = 0.009) variant were associated with moderately increased risks of breast cancer among Europeans, whereas BRCA2 c.7522G>A, p.Gly2508Ser (OR = 2.68; <i>P</i> = 0.004), and c.8187G>T, p.Lys2729Asn (OR = 1.4; <i>P</i> = 0.004) were associated with moderate and low risks of breast cancer among Asians.
|
28283652 |
2017 |
|
rs41293459
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G>A p.Arg1699Gln (R1699Q) families recruited through family cancer clinics, comparing results with 34 families carrying the previously classified pathogenic BRCA1 c.5095C>T p.Arg1699Trp (R1699W) mutation at the same residue, and to 243 breast cancer families with no BRCA1 pathogenic mutation (BRCA-X).
|
22889855 |
2012 |
|
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 |
Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family.
|
11836613 |
2002 |
|
rs1799966
|
|
|
0.020 |
GeneticVariation |
BEFREE |
BRCA1polymorphisms rs799917 and rs1799966 were not significantly associated with BC risk in this meta-analysis.
|
30832521 |
2019 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs80357796
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family.
|
11836613 |
2002 |
|
rs1216516227
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Initial screening revealed pathogenic variants in known cancer genes, including <i>BARD1</i>:p.Trp91* detected in a cancer-free individual, and <i>MEN1</i>:p.Glu260Lys detected in a BC patient.
|
31681433 |
2019 |
|
rs1799967
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that two polymorphic variants, rs1799967 (BRCA1) and rs4987117 (BRCA2), were strongly associated with the risk of BC.
|
30611917 |
2019 |
|
rs80356932
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we show that BRCA1 and BRCA2 variants are significantly associated with high breast cancer risk (BRCA1 rs80356932; Genotype T/T OR 8.66, 95% CI 3.16-23.71, p < 0.0001; Allele-T, OR 2.48, 95% CI 1.62-3.81, p < 0.0001 and BRCA2 rs80359182; Genotype C/C OR 4.32, 95% CI 1.95-9.53, p = 0.0001; Allele-C, OR 2.19, 95% CI 1.43-3.34, p = 0.0002).
|
30430339 |
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 |
|
rs80357906
|
|
|
0.010 |
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 |