|
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 |
|
rs28897672
|
|
|
0.870 |
GeneticVariation |
BEFREE |
We report biallelic BRCA1 mutations c.181T > G (p.Cys61Gly) and c.5096G > A (p.Arg1699Gln) in a woman with breast cancer diagnosed at the age of 30 years.
|
31347298 |
2019 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We report biallelic BRCA1 mutations c.181T > G (p.Cys61Gly) and c.5096G > A (p.Arg1699Gln) in a woman with breast cancer diagnosed at the age of 30 years.
|
31347298 |
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 |
|
rs799917
|
|
|
0.060 |
GeneticVariation |
BEFREE |
BRCA1polymorphisms rs799917 and rs1799966 were not significantly associated with BC risk in this meta-analysis.
|
30832521 |
2019 |
|
rs1799966
|
|
|
0.020 |
GeneticVariation |
BEFREE |
BRCA1polymorphisms rs799917 and rs1799966 were not significantly associated with BC risk in this meta-analysis.
|
30832521 |
2019 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs41293455
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.
|
28364669 |
2017 |
|
rs80357389
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.
|
28364669 |
2017 |
|
rs748876625
|
|
|
0.740 |
GeneticVariation |
UNIPROT |
Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.
|
28364669 |
2017 |
|
rs41293459
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.
|
28364669 |
2017 |
|
rs41293463
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.
|
28364669 |
2017 |
|
rs55971303
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.
|
28364669 |
2017 |