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rs17849781
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|
Mammary Neoplasms
|
|
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 |
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rs17849781
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|
Malignant Neoplasms
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|
0.030 |
GeneticVariation
|
BEFREE |
A polymorphic form of NQO1 (p.P187S) is associated with increased cancer risk and certain neurological disorders (such as multiple sclerosis and Alzheimer´s disease), possibly due to its roles in the antioxidant defence. p.P187S has greatly reduced FAD affinity and stability, due to destabilization of the flavin binding site and the C-terminal domain, which leading to reduced activity and enhanced degradation.
|
31091472 |
2019 |
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rs17849781
|
|
Primary malignant neoplasm
|
|
0.030 |
GeneticVariation
|
BEFREE |
Interestingly, a common polymorphic form of human NQO1, p.P187S, is associated with an increased risk of several forms of cancer.
|
30518535 |
2019 |
|
rs17849781
|
|
Malignant Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
Interestingly, a common polymorphic form of human NQO1, p.P187S, is associated with an increased risk of several forms of cancer.
|
30518535 |
2019 |
|
rs17849781
|
|
Primary malignant neoplasm
|
|
0.030 |
GeneticVariation
|
BEFREE |
A polymorphic form of NQO1 (p.P187S) is associated with increased cancer risk and certain neurological disorders (such as multiple sclerosis and Alzheimer´s disease), possibly due to its roles in the antioxidant defence. p.P187S has greatly reduced FAD affinity and stability, due to destabilization of the flavin binding site and the C-terminal domain, which leading to reduced activity and enhanced degradation.
|
31091472 |
2019 |
|
rs17849781
|
|
Primary malignant neoplasm
|
|
0.030 |
GeneticVariation
|
BEFREE |
Structural protein:protein interaction studies reveal that the cancer-associated polymorphism does not abolish the interaction with p73α, indicating that oncosuppressor destabilization largely mirrors the low intracellular stability of p.P187S.
|
28291250 |
2017 |
|
rs17849781
|
|
Malignant Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
Structural protein:protein interaction studies reveal that the cancer-associated polymorphism does not abolish the interaction with p73α, indicating that oncosuppressor destabilization largely mirrors the low intracellular stability of p.P187S.
|
28291250 |
2017 |
|
rs17849781
|
|
Malignant neoplasm of breast
|
|
0.020 |
GeneticVariation
|
BEFREE |
NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer.
|
18511948 |
2008 |
|
rs17849781
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|
Breast Carcinoma
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|
0.020 |
GeneticVariation
|
BEFREE |
NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer.
|
18511948 |
2008 |
|
rs17849781
|
|
Breast Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk for breast cancer of double heterozygotes (P187S/R72P) of the NQO1 and TP53 genes (OR=1.88; 95% CI 1.13-3.15; P=0.011), suggesting a possible interaction of these two loci.
|
15138483 |
2004 |
|
rs17849781
|
|
Malignant neoplasm of breast
|
|
0.020 |
GeneticVariation
|
BEFREE |
Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk for breast cancer of double heterozygotes (P187S/R72P) of the NQO1 and TP53 genes (OR=1.88; 95% CI 1.13-3.15; P=0.011), suggesting a possible interaction of these two loci.
|
15138483 |
2004 |
|
rs17849781
|
|
Multiple Sclerosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
A polymorphic form of NQO1 (p.P187S) is associated with increased cancer risk and certain neurological disorders (such as multiple sclerosis and Alzheimer´s disease), possibly due to its roles in the antioxidant defence. p.P187S has greatly reduced FAD affinity and stability, due to destabilization of the flavin binding site and the C-terminal domain, which leading to reduced activity and enhanced degradation.
|
31091472 |
2019 |
|
rs17849781
|
|
nervous system disorder
|
|
0.010 |
GeneticVariation
|
BEFREE |
A polymorphic form of NQO1 (p.P187S) is associated with increased cancer risk and certain neurological disorders (such as multiple sclerosis and Alzheimer´s disease), possibly due to its roles in the antioxidant defence. p.P187S has greatly reduced FAD affinity and stability, due to destabilization of the flavin binding site and the C-terminal domain, which leading to reduced activity and enhanced degradation.
|
31091472 |
2019 |
|
rs17849781
|
|
Small cell carcinoma of lung
|
|
0.010 |
GeneticVariation
|
BEFREE |
In SCLC-6 the mutation resulted in substitution of serine for proline at amino acid 278 and in SCLC-4 substitution of tryptophan for arginine at amino acid 248, both nonconservative amino acid substitutions.
|
1648702 |
1991 |