|
rs1216516227
|
|
Malignant neoplasm of breast
|
|
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
|
|
Malignant neoplasm of breast
|
|
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
|
|
Malignant neoplasm of breast
|
|
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
|
|
Malignant neoplasm of breast
|
|
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
|
|
Malignant neoplasm of breast
|
|
0.060 |
GeneticVariation
|
BEFREE |
BRCA1polymorphisms rs799917 and rs1799966 were not significantly associated with BC risk in this meta-analysis.
|
30832521 |
2019 |
|
rs1799966
|
|
Malignant neoplasm of breast
|
|
0.020 |
GeneticVariation
|
BEFREE |
BRCA1polymorphisms rs799917 and rs1799966 were not significantly associated with BC risk in this meta-analysis.
|
30832521 |
2019 |
|
rs80357906
|
|
Malignant neoplasm of breast
|
|
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
|
|
Malignant neoplasm of breast
|
|
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
|
|
Malignant neoplasm of breast
|
|
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
|
|
Malignant neoplasm of breast
|
|
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 |
|
rs80357641
|
|
Malignant neoplasm of breast
|
|
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 |
|
rs80357275
|
|
Malignant neoplasm of breast
|
|
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 |
|
rs80357164
|
|
Malignant neoplasm of breast
|
|
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
|
|
Malignant neoplasm of breast
|
|
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
|
|
Malignant neoplasm of breast
|
|
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
|
|
Malignant neoplasm of breast
|
|
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 |
|
rs8176258
|
|
Malignant neoplasm of breast
|
|
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
|
|
Malignant neoplasm of breast
|
|
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 |
|
rs799923
|
|
Malignant neoplasm of breast
|
|
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
|
|
Malignant neoplasm of breast
|
|
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 |
|
rs80357750
|
|
Malignant neoplasm of breast
|
|
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 |
|
rs786203319
|
|
Malignant neoplasm of breast
|
|
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 |
|
rs1060502346
|
|
Malignant neoplasm of breast
|
|
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 |
|
rs41293459
|
|
Malignant neoplasm of breast
|
|
0.730 |
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
|
|
Malignant neoplasm of breast
|
|
0.730 |
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 |