|
rs80357973
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
[The measuring for depth of papillary excavation by microcomputer (author's transl)].
|
7257965 |
1980 |
|
rs80357973
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
[Simple and rapid technic of grouping of streptococci].
|
824983 |
1976 |
|
rs55680408
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We used large-scale genetic and clinical resources from the ENIGMA, CIMBA and BCAC consortia to assess pathogenicity of c.594-2A > C. The combined odds for causality considering case-control, segregation and breast tumor pathology information was 3.23 × 10<sup>-8</sup> Our data indicate that c.594-2A > C is always in cis with c.641A > G. The spliceogenic effect of c.[594-2A > C;641A > G] was characterized using RNA analysis of human samples and splicing minigenes.
|
27008870 |
2016 |
|
rs201498575
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We recently identified a novel NHERF1 mutation (E43G) in breast tumours.
|
26977012 |
2016 |
|
rs587781858
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated the effects of the germ-line single nucleotide polymorphisms TP53 R72P (215G>C) and MDM2 SNP309 (-410T>G), and p53 protein expression in breast tumors on survival.
|
20021639 |
2009 |
|
rs1042522
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We investigated the effects of the germ-line single nucleotide polymorphisms TP53 R72P (215G>C) and MDM2 SNP309 (-410T>G), and p53 protein expression in breast tumors on survival.
|
20021639 |
2009 |
|
rs1131691014
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We investigated the effects of the germ-line single nucleotide polymorphisms TP53 R72P (215G>C) and MDM2 SNP309 (-410T>G), and p53 protein expression in breast tumors on survival.
|
20021639 |
2009 |
|
rs878854066
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We investigated the effects of the germ-line single nucleotide polymorphisms TP53 R72P (215G>C) and MDM2 SNP309 (-410T>G), and p53 protein expression in breast tumors on survival.
|
20021639 |
2009 |
|
rs1353702185
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated the effects of the germ-line single nucleotide polymorphisms TP53 R72P (215G>C) and MDM2 SNP309 (-410T>G), and p53 protein expression in breast tumors on survival.
|
20021639 |
2009 |
|
rs876660254
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have predicted three deleterious coding non-synonymous single nucleotide polymorphisms rs11540654 (R110P), rs17849781 (P278A) and rs28934874 (P151T) in TP53 with a phenotype in breast tumors using computational tools SIFT, Polyphen-2 and MutDB.
|
25105660 |
2014 |
|
rs28934874
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We have predicted three deleterious coding non-synonymous single nucleotide polymorphisms rs11540654 (R110P), rs17849781 (P278A) and rs28934874 (P151T) in TP53 with a phenotype in breast tumors using computational tools SIFT, Polyphen-2 and MutDB.
|
25105660 |
2014 |
|
rs17849781
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We have predicted three deleterious coding non-synonymous single nucleotide polymorphisms rs11540654 (R110P), rs17849781 (P278A) and rs28934874 (P151T) in TP53 with a phenotype in breast tumors using computational tools SIFT, Polyphen-2 and MutDB.
|
25105660 |
2014 |
|
rs11540654
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have predicted three deleterious coding non-synonymous single nucleotide polymorphisms rs11540654 (R110P), rs17849781 (P278A) and rs28934874 (P151T) in TP53 with a phenotype in breast tumors using computational tools SIFT, Polyphen-2 and MutDB.
|
25105660 |
2014 |
|
rs121913279
|
|
|
0.740 |
GeneticVariation |
BEFREE |
We found that activation of the latent Pik3ca(H1047R) allele resulted in breast tumors with multiple histological types.
|
22370636 |
2013 |
|
rs17879961
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We found an even stronger significant association between the CHEK2 I157T C variant and increased risk of lobular type breast tumors (OR = 4.17, 95% CI = 2.89-6.03, P < 0.0001).
|
22799331 |
2012 |
|
rs1302103336
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found an even stronger significant association between the CHEK2 I157T C variant and increased risk of lobular type breast tumors (OR = 4.17, 95% CI = 2.89-6.03, P < 0.0001).
|
22799331 |
2012 |
|
rs1389945622
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe an HNPCC patient, with early-onset colorectal cancer and a strong family history of colorectal and breast tumors, who harbours a germ line MLH1 intronic variant (IVS9 c.790 +4A>T).
|
20717847 |
2011 |
|
rs587779003
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe an HNPCC patient, with early-onset colorectal cancer and a strong family history of colorectal and breast tumors, who harbours a germ line MLH1 intronic variant (IVS9 c.790 +4A>T).
|
20717847 |
2011 |
|
rs80357034
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two genetic variants were initially classified as VUSs (c.1155C>T and c.5191C>A). c.1155C>T is not predicted to be deleterious in the prescreening portion of our assessment strategy. c.5191C>A, on the other hand, causes p.T1691K, which is predicted to have high deleterious probability because of significant structural alteration, a high deleterious score in the predictive programs and, clinically, triple negative characteristics in breast tumors.
|
22277901 |
2012 |
|
rs11249433
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This is the first study to show that the expression of NOTCH2 differs in subgroups of breast tumors and by genotypes of the breast cancer-associated SNP rs11249433.
|
20482849 |
2010 |
|
rs41293463
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This association was much weaker with the same fragment bearing a missense mutation (M1775R) that has been identified in breast tumors.
|
10403822 |
1999 |
|
rs796065354
|
|
|
0.040 |
GeneticVariation |
BEFREE |
These preliminary results suggest that OCs may interact with the ESR1 A908G mutant receptor to drive the development of some breast tumors.
|
17553133 |
2007 |
|
rs1462893414
|
|
|
0.030 |
GeneticVariation |
BEFREE |
These preliminary results suggest that OCs may interact with the ESR1 A908G mutant receptor to drive the development of some breast tumors.
|
17553133 |
2007 |
|
rs1801725
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These data suggest that decreased sensitivity of the CaSR to calcium due to inactivating polymorphisms at rs1801725, may predispose up to 20% of BC cases to high circulating calcium-associated larger and/or aggressive breast tumors.
|
28764683 |
2017 |
|
rs1675126
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The synonymous SNP rs1675126 in exon 7 of INCENP was associated with overall breast cancer risk [per A allele odds ratio (OR) 0.95, 95% confidence interval (CI) 0.92-0.98, P = 0.007] and particularly with estrogen receptor (ER)-negative breast tumors (per A allele OR 0.89, 95% CI 0.83-0.95, P = 0.0005).
|
25586992 |
2015 |