|
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 |
|
rs431825395
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The two missense variants <i>BRCA2</i>:c.91T >G (p.Trp31Gly) and <i>PALB2</i>:c.3262C >T (p.Pro1088Ser) were detected in two breast cancer probands originally ascertained at Breast Cancer Units of Institutes located in Milan and Bergamo (Northern Italy), respectively.
|
30410870 |
2018 |
|
rs786202998
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study suggests that RNASEL:p.Glu265* may be a genetic modifier of risk for early-onset breast cancer predisposition in carriers of high-risk mutations.
|
29422015 |
2018 |
|
rs80357164
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In summary, the BRCA1 Cys39Gly</span> and CYP17A1 -34T>C genetic variations were associated with breast cancer risk.
|
29510000 |
2018 |
|
rs80357275
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ZNF350 L66P variant modifies the risk of breast cancer not only by itself but also in a gene-environment interaction manner with age, age at menarche, menopause status, or estrogen receptor status.
|
29653063 |
2018 |
|
rs80357641
|
|
|
0.010 |
GeneticVariation |
BEFREE |
It was found that ZNF350 rs2278420 (L66P) and rs2278415 (S501R) missense genetic variants are in complete linkage disequilibrium and have a significant impact on inter-individual susceptibility to breast cancer.
|
29653063 |
2018 |
|
rs1060502346
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the requirement of the PALB2-BRCA1 interaction for breast cancer suppression.
|
28319063 |
2017 |
|
rs273898682
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study also suggests that BRCA1 p.Arg762Ser may be associated with increased risk of breast cancer but other methods or larger studies are required to determine a more precise estimate of breast cancer risk.
|
28222693 |
2017 |
|
rs786203319
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the requirement of the PALB2-BRCA1 interaction for breast cancer suppression.
|
28319063 |
2017 |
|
rs799923
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we found four low-frequency variants (rs8176085, rs799923, rs8176173 and rs8176258) in the BRCA1 gene, one common variant in the CHEK2 gene (rs9620817), and one common variant in the PALB2 gene (rs13330119) associated with breast cancer risk at P < 0.01.
|
28419251 |
2017 |
|
rs80357750
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the requirement of the PALB2-BRCA1 interaction for breast cancer suppression.
|
28319063 |
2017 |
|
rs8176173
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we found four low-frequency variants (rs8176085, rs799923, rs8176173 and rs8176258) in the BRCA1 gene, one common variant in the CHEK2 gene (rs9620817), and one common variant in the PALB2 gene (rs13330119) associated with breast cancer risk at P < 0.01.
|
28419251 |
2017 |
|
rs8176258
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we found four low-frequency variants (rs8176085, rs799923, rs8176173 and rs8176258) in the BRCA1 gene, one common variant in the CHEK2 gene (rs9620817), and one common variant in the PALB2 gene (rs13330119) associated with breast cancer risk at P < 0.01.
|
28419251 |
2017 |
|
rs886039920
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the requirement of the PALB2-BRCA1 interaction for breast cancer suppression.
|
28319063 |
2017 |
|
rs16940
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequency of the polymorphism c.2311T>C was significantly higher in patients of the group BC+Her+Exp than in healthy women, and of the polymorphism 5382insC in BC+Her+Exp compared to all other groups.
|
27644661 |
2016 |
|
rs397507242
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This report describes two breast cancer (BC) patients carrying BRCA1 L1705P and W1837X germ-line mutations, respectively.
|
26951538 |
2016 |
|
rs80356914
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This report describes two breast cancer (BC) patients carrying BRCA1 L1705P and W1837X germ-line mutations, respectively.
|
26951538 |
2016 |
|
rs80357307
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This report describes two breast cancer (BC) patients carrying BRCA1 L1705P and W1837X germ-line mutations, respectively.
|
26951538 |
2016 |
|
rs8176318
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Gene-reproductive factors interactions analysis revealed that rs15869 together with age at menarche and number of pregnancy could increase the risk of BC by 2.39-fold and TT genotype (OR 0.316; 95% CI 0.130-0.767) of rs8176318 had a significant association with progesterone receptor status in BC patients.
|
27807724 |
2016 |
|
rs28897680
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutational analysis of PALB2 gene revealed the novel mutation c.1919C>A (p.S640X) in a 29 years old woman with breast cancer.
|
25666743 |
2015 |
|
rs777515082
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygosity for p.I171</span>V</span> was found in 4/235 patients with breast cancer and 3/281 individuals in the control group.
|
25712764 |
2015 |
|
rs786203965
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutational analysis of PALB2 gene revealed the novel mutation c.1919C>A (p.S640X) in a 29 years old woman with breast cancer.
|
25666743 |
2015 |