|
rs967624732
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
The p.Ala126Thr and p.Val169Ala variants have been reported to have no association with risk of breast cancer in a case-control study.
|
22476429 |
2012 |
|
rs886040920
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
We investigated and found no significant association between the P210L variant and breast cancer risk in a small case-control study of African-American women.
|
21113654 |
2011 |
|
rs886039958
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we discovered that carriers of both variants, AKAP10 Ile646Val and AKAP13 Lys526Gln, are at a further enhanced breast cancer risk (OR=2.41, 95% CI 1.30-4.46, P=0.005).
|
16956908 |
2007 |
|
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 |
|
rs886037971
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
There was some evidence (two-sided P = 0.09) that 330A>G (R71G) in BRCA1 may have lower breast cancer penetrance.
|
18451254 |
2008 |
|
rs878854947
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
There was some evidence (two-sided P = 0.09) that 330A>G (R71G) in BRCA1 may have lower breast cancer penetrance.
|
18451254 |
2008 |
|
rs876660267
|
|
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 |
|
rs876659991
|
|
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 |
|
rs876658341
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
No associations with breast cancer were observed for: APEX Q51H; XRCC1 R280H; IGFPB3 -202A>C; TGFss1 L10P, P25R, and T263I; BRCA2 N289H and T1915M; BRIP1 -64A>C; and ZNF350 (or ZBRK1) 1845C>T, L66P, R501S, and S472P.
|
15113441 |
2004 |
|
rs863224765
|
|
Malignant neoplasm of breast
|
|
0.710 |
GeneticVariation
|
BEFREE |
Nevertheless, comprehensive studies of mutation G1770V in large series of BC patients from Morocco are needed to assess the real prevalence of this mutation and to improve genetic testing and risk assessment in this population.
|
26864382 |
2016 |
|
rs863224752
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
These findings indicate that the potentially functional polymorphisms Pro24Ser and Arg378Ser in BARD1 may jointly contribute to the susceptibility of breast cancer.
|
17028982 |
2007 |
|
rs8176318
|
|
Malignant neoplasm of breast
|
|
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 |
|
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 |
|
rs80357956
|
|
Malignant neoplasm of breast
|
|
0.010 |
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 |
|
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 |
|
rs80357796
|
|
Malignant neoplasm of breast
|
|
0.020 |
GeneticVariation
|
BEFREE |
Conversely, the BRCA1 Q356R and BRCA2 203G>A polymorphisms did not show any significant associations with breast cancer risk.
|
18288416 |
2008 |
|
rs80357796
|
|
Malignant neoplasm of breast
|
|
0.020 |
GeneticVariation
|
BEFREE |
Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family.
|
11836613 |
2002 |
|
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 |
|
rs80357660
|
|
Malignant neoplasm of breast
|
|
0.010 |
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 |
|
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 |
|
rs80357610
|
|
Malignant neoplasm of breast
|
|
0.020 |
GeneticVariation
|
BEFREE |
We can conclude that XRCC3 Thr241Met polymorphism might be associated with breast cancer risk, especially in Asian populations and in patients without family history of breast cancer.
|
26498491 |
2015 |
|
rs80357610
|
|
Malignant neoplasm of breast
|
|
0.020 |
GeneticVariation
|
BEFREE |
In addition, using a case-control design we studied the XRCC3-Thr241Met, and RAD51D-E233G polymorphisms in 267 BC cases and 500 controls to evaluate their possible association with BC susceptibility.
|
20054644 |
2010 |
|
rs80357482
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
An association was observed between p.Arg280His-rs25489 and breast cancer risk for BRCA2 mutation carriers, with rare homozygotes at increased risk relative to common homozygotes (hazard ratio: 22.3, 95% confidence interval: 14.3-34, P<0.001).
|
21427728 |
2011 |
|
rs80357474
|
|
Malignant neoplasm of breast
|
|
0.710 |
GeneticVariation
|
BEFREE |
Moreover, the c.5339T>C variant in the <i>BRCA1</i> gene was detected in four patients with a family history of breast cancer.
|
27658390 |
2017 |