|
rs206340
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results could be explained on the basis of a single marker in intron 24 (SNP 42: rs206340) that was correlated with these haplotypes and the homozygous state was associated with a significantly increased risk of breast cancer (AA versus GG genotypes: OR=1.59, 95% CI, 1.18-2.16; nominal P=0.005).
|
15317758 |
2004 |
|
rs80358561
|
|
|
0.010 |
GeneticVariation |
BEFREE |
DNA sequencing from III: 22 (diagnosed with lobular BC) identified a BRCA2 exon 3 542G>T (L105X) mutation.
|
14735197 |
2004 |
|
rs786201704
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, one missense variant, L1420F, was observed in 13 HBOC families (4.8%) but was not observed in any of the 122 healthy volunteers with no history of breast cancer.
|
12810666 |
2003 |
|
rs80359130
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Remarkably, FA-AML1 cells appeared to lack the characteristic cellular FA phenotype, i.e., a hypersensitivity to growth inhibition and chromosomal breakage by the cross-linking agent mitomycin C. Genomic DNA from the patient showed biallelic mutations [8415G>T (K2729N)and 8732C>A (S2835STOP)] in the breast cancer susceptibility gene FANCD1/BRCA2 [N. Howlett et al., Science (Wash. DC), 297: 606-609, 2002].
|
12750298 |
2003 |
|
rs878853582
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, one missense variant, L1420F, was observed in 13 HBOC families (4.8%) but was not observed in any of the 122 healthy volunteers with no history of breast cancer.
|
12810666 |
2003 |
|
rs80358547
|
|
|
0.010 |
GeneticVariation |
BEFREE |
RNA analysis from a breast cancer patient with BRCA2 IVS7 + 2T --> G showed that the productive message was produced from only one chromosome.
|
11185744 |
2000 |
|
rs80358978
|
|
|
0.020 |
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 |
|
rs80358978
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We found three missense variants with minor allele frequency (MAF) <0.05: rs80358978 (Gly2508Ser), rs80359065 (Lys2729Asn) and rs11571653 (Met784Val) in the BRCA2 gene, showing statistically significant associations with breast cancer risk, with P-values of 1.2 × 10-4, 1.0 × 10-3 and 5.0 × 10-3, respectively.
|
28419251 |
2017 |
|
rs876659602
|
|
|
0.020 |
GeneticVariation |
BEFREE |
For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10<sup>-5</sup>), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10<sup>-8</sup>) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012).
|
27595995 |
2016 |
|
rs80358829
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A common variant allele (C5972T) observed in the BRCA2 gene in the Polish population is associated with an increased risk of breast cancer.
|
25533971 |
2015 |
|
rs876659602
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Available data suggests that PALB2 c.3113G>A is a rare mutation with estimated breast cancer risks similar in magnitude to that associated with BRCA2 mutations.
|
23471749 |
2013 |
|
rs80358527
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These results do not support the hypothesis that TGFB1 L10P genotypes modify the risk of breast cancer in BRCA1 or BRCA2 mutation carriers.
|
18523885 |
2009 |
|
rs80358527
|
|
|
0.020 |
GeneticVariation |
BEFREE |
For five SNPs--CASP8 D302H, IGFBP3 -202 c>a, PGR V660L, SOD2 V16A, and TGFB1 L10P--the associations with breast cancer were of borderline statistical significance (P = .016, .060, .047, .056, and .0088 respectively).
|
17018785 |
2006 |
|
rs80358829
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The overall odds ratio for breast cancer in women with a single copy of the BRCA2 C5972T variant was 1.1 (p = 0.7); however, the effect was significant for patients diagnosed at or before age 40 (OR = 1.4; p = 0.04).
|
16280055 |
2005 |
|
rs4987117
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We found that two polymorphic variants, rs1799967 (BRCA1) and rs4</span>987117 (BRCA2), were strongly associated with the risk of BC.
|
30611917 |
2019 |
|
rs11571653
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We found three missense variants with minor allele frequency (MAF) <0.05: rs80358978 (Gly2508Ser), rs80359065 (Lys2729Asn) and rs11571653 (Met784Val) in the BRCA2 gene, showing statistically significant associations with breast cancer risk, with P-values of 1.2 × 10-4, 1.0 × 10-3 and 5.0 × 10-3, respectively.
|
28419251 |
2017 |
|
rs11571653
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our results further suggest that the CHEK2-1100delC mutation in combination with BRCA2-Met784Val may lead to an unexpected high risk which needs to be confirmed in larger cohorts in order to better understand their role in the development and prognosis of breast cancer.
|
23803109 |
2013 |
|
rs4987117
|
|
|
0.030 |
GeneticVariation |
BEFREE |
These data suggest that the BRCA2 T1915M polymorphism alone might be associated with a reduced risk of breast cancer, but among CHEK2 mutation carriers, it may lead to an unexpectedly high risk.
|
19030985 |
2009 |
|
rs4987117
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Therefore, the Met1915Thr polymorphism in the BRCA2 gene may be considered as an independent marker of breast cancer.
|
16261408 |
2005 |
|
rs11571653
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In contrast, a significant increase in breast cancer risk (odds ratio, 2.03; 95% confidence interval, 1.07-3.87) was observed in carriers of the variant allele (V784) of the M/V784 polymorphism as compared with noncarriers after adjustment for the classical risk factors, age, family history, parity, body mass index, and so forth.
|
12684407 |
2003 |
|
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Modulation of HAT activity by BRCA2 N372H variation is a new mechanism of paclitaxel resistance in breast cancer.
|
28431939 |
2017 |
|
rs144848
|
|
|
0.100 |
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 |
|
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Overall, no significant associations were found between BRCA2 N372H polymorphism and breast cancer risk when all studies pooled into the meta-analysis (NH versus NN: OR = 1.01, 95% CI = 0.97-1.05; HH versus NN: OR = 1.05, 95% CI = 0.97-1.13; dominant model: OR = 1.01, 95% CI = 0.98-1.05; and recessive model: OR = 1.05, 95% CI = 0.98-1.13).
|
20135345 |
2010 |
|
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Considering the relevant role of BRCA2 in MBC, we investigated whether the BRCA2 N372H variant, representing the only common non-synonymous polymorphism in BRCA2, might modulate the risk of BC in male populations.
|
17767707 |
2007 |
|
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P.
|
16485136 |
2006 |