|
rs397509019
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two amino acid substitutions p.S707P and p.F858L, previously reported to be associated with breast cancer, were present in our study in cases and controls, lacking of association with breast cancer.
|
17351744 |
2008 |
|
rs397509171
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
In conclusion, we found no evidence that the ATM c.4258C>T variant increases breast cancer risk, and little evidence that c.1066-6T>G confers an elevated risk.
|
15880680 |
2005 |
|
rs397509205
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
BRCA1 E1644X: a deleterious mutation in an African American individual with early onset breast cancer.
|
18311584 |
2009 |
|
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 |
|
rs431825416
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
The DR-4 haplotype 626C-683C [626C > G, Thr209Arg (rs4871857) and 683A > C, Glu228Ala (rs17088993)] has recently been linked to an increased risk of breast cancer.
|
21484799 |
2012 |
|
rs4986850
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumulative occupational breast dose and risk of breast cancer (adjusted for personal diagnostic exposure) (p = 0.04) and BRCA1 D652N (rs4986850), PRKDC IVS15 + 6C > T (rs1231202), PRKDC IVS34 + 39T > C (rs8178097) and PRKDC IVS31 - 634C > A (rs10109984) significantly altered the personal diagnostic radiation exposure-response relationship (adjusted for occupational dose) (p < or = 0.05).
|
17764108 |
2008 |
|
rs4986854
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
We identified the variants V1804D and M1628T at the transcriptional activation domain of BRCA1 of two ovarian cancer patients without a family history of ovarian or breast cancer.
|
15350310 |
2004 |
|
rs55906931
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
Y179C, F486L and N550H are BRCA1 variants that may be associated with breast cancer in a Sicilian family: results of a 5-year GOIM (Gruppo Oncologico dell'Italia Meridionale) prospective study.
|
16760288 |
2006 |
|
rs56012641
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
Y179C, F486L and N550H are BRCA1 variants that may be associated with breast cancer in a Sicilian family: results of a 5-year GOIM (Gruppo Oncologico dell'Italia Meridionale) prospective study.
|
16760288 |
2006 |
|
rs56187033
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
Y179C, F486L and N550H are BRCA1 variants that may be associated with breast cancer in a Sicilian family: results of a 5-year GOIM (Gruppo Oncologico dell'Italia Meridionale) prospective study.
|
16760288 |
2006 |
|
rs730881446
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
This study includes a novel mutation, p.His1746 Pro (c.5237A>C), which was found in BRCA1 exon 20 of a breast cancer patient.
|
24297685 |
2013 |
|
rs730881496
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
Of 25 variants identified in BRIP1, in addition to four common silent or missense mutations, we identified Gln540Leu, a non-conservative amino acid change, in a single familial proband with inflammatory breast cancer, but this mutation was not present in her three relatives with breast cancer.
|
12872252 |
2003 |
|
rs730881500
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two variants (Thr598Ile and Ile692Thr) were not detected in any of the 659 sporadic breast cancer cases and controls and were assessed for segregation with breast cancer in the families of the probands.
|
17972171 |
2008 |
|
rs754763517
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumulative occupational breast dose and risk of breast cancer (adjusted for personal diagnostic exposure) (p = 0.04) and BRCA1 D652N (rs4986850), PRKDC IVS15 + 6C > T (rs1231202), PRKDC IVS34 + 39T > C (rs8178097) and PRKDC IVS31 - 634C > A (rs10109984) significantly altered the personal diagnostic radiation exposure-response relationship (adjusted for occupational dose) (p < or = 0.05).
|
17764108 |
2008 |
|
rs777515082
|
|
Malignant neoplasm of breast
|
|
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 |
|
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 |
|
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 |
|
rs786203671
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
However, both SNPs, BRCA2 Ser2414Ser (7242A > G) and Ser455Ser (1365A > G), showed no association with breast cancer risk.
|
19229607 |
2009 |
|
rs786203965
|
|
Malignant neoplasm of breast
|
|
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 |
|
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 |
|
rs80356881
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
We identified two BRCA1 mutations in a high risk breast cancer family: the missense 1240 C > T (Thr > Ile) and the 1241delAC at codon 374, which results in a stop at codon 376.
|
10424783 |
1999 |
|
rs80356886
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D148E ran counter to our findings of decreased risks.
|
15113441 |
2004 |
|
rs80356897
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
Among the 378Ser variant allele carriers, the 24Pro/Pro wild-type homozygote was associated with a significantly increased breast cancer risk (adjusted OR=1.81, 95% CI=1.11-2.95), but the subjects having 24Pro/Ser or Ser/Ser variant genotypes had a significantly decreased risk (adjusted OR=0.74, 95% CI=0.56-0.99).
|
17028982 |
2007 |
|
rs80356914
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
This report describes two breast cancer (BC) patients carrying BRCA1 L1705P and W1837X germ-line mutations, respectively.
|
26951538 |
2016 |
|
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 |