|
Aplastic Anemia
|
|
0.720 |
GeneticVariation
|
BEFREE |
In earlier work, we had identified a remarkable number of structural chromosomal aberrations in a patient with pediatric aplastic anemia with a homozygous polymorphic variant of NBS1-I171V; however, it was unclear whether this variant affected DSB repair activity or chromosomal instability.
|
24830725 |
2014 |
|
Childhood Acute Lymphoblastic Leukemia
|
|
0.720 |
GeneticVariation
|
BEFREE |
A rare polymorphic variant of NBS1 that resulted in an isoleucine to valine substitution at amino acid position 171 (I171V) was first identified in childhood acute lymphoblastic leukemia.
|
24830725 |
2014 |
|
Childhood Acute Lymphoblastic Leukemia
|
|
0.720 |
GeneticVariation
|
BEFREE |
In our previous study we showed that the germline p.I171V mutation in NBN may be considered as a risk factor in the development of childhood acute lymphoblastic leukemia (ALL) and some specific haplotypes of that gene may be associated with childhood leukemia.
|
24093751 |
2013 |
|
Aplastic Anemia
|
|
0.720 |
GeneticVariation
|
BEFREE |
This is the first report of AA with a homozygous I171V mutation.
|
15338273 |
2004 |
|
Aplastic Anemia
|
|
0.720 |
CausalMutation
|
CLINVAR |
|
|
|
|
Childhood Acute Lymphoblastic Leukemia
|
|
0.720 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Malignant Neoplasms
|
|
0.070 |
GeneticVariation
|
BEFREE |
These results suggest that rs2735383, rs1063054, I171V, 657del5 and R215W are low-penetrance risk factors for cancer development.
|
24113799 |
2013 |
|
Malignant Neoplasms
|
|
0.070 |
GeneticVariation
|
BEFREE |
Several studies have shown an association of heterozygous c.657-661del, p.I171V and p.R215W mutations in the NBN gene with a variety of malignancies but the data are controversial.
|
22131123 |
2012 |
|
Malignant Neoplasms
|
|
0.070 |
GeneticVariation
|
BEFREE |
In conclusion, I171V germline mutation in contrary to adults cannot be considered as a risk factor for children malignancies.
|
21436738 |
2011 |
|
Malignant Neoplasms
|
|
0.070 |
GeneticVariation
|
BEFREE |
Among these, an association with cancer was found most frequently for 657del5 (in leukemia/lymphoma and breast cancer) and I171V (in leukemia, breast, head and neck and colorectal cancers); however, other studies gave contradictory results.
|
18606567 |
2008 |
|
Malignant Neoplasms
|
|
0.070 |
GeneticVariation
|
BEFREE |
I171V mutation was present in 17 cancer patients compared with only one in healthy individuals.
|
18280732 |
2008 |
|
Malignant Neoplasms
|
|
0.070 |
GeneticVariation
|
BEFREE |
Positive associations have also been reported for leukaemia and larynx cancer suggesting that I171V could be a more general susceptibility factor for malignancies.
|
18049891 |
2008 |
|
Malignant Neoplasms
|
|
0.070 |
GeneticVariation
|
BEFREE |
Although an increased frequency of both mutations in cancer cases - 0.8% of 657del5 and 2.4% of I171V, compared to controls - 0.52% and 1.38%, respectively, was found, the differences were not statistically significant.
|
17695489 |
2007 |
|
Malignant neoplasm of breast
|
|
0.060 |
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 |
|
Breast Carcinoma
|
|
0.060 |
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 |
|
Breast Carcinoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
The present meta-analysis suggests that the 657del5 gene mutation in the NBS1 gene plays a role in breast cancer risk, while the I171V mutation does not exert a significant influence.
|
23317186 |
2012 |
|
Malignant neoplasm of breast
|
|
0.060 |
GeneticVariation
|
BEFREE |
The present meta-analysis suggests that the 657del5 gene mutation in the NBS1 gene plays a role in breast cancer risk, while the I171V mutation does not exert a significant influence.
|
23317186 |
2012 |
|
Breast Carcinoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
Among these, an association with cancer was found most frequently for 657del5 (in leukemia/lymphoma and breast cancer) and I171V (in leukemia, breast, head and neck and colorectal cancers); however, other studies gave contradictory results.
|
18606567 |
2008 |
|
Breast Carcinoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
A meta-analysis of all hitherto available studies did not reveal a difference in the prevalence of I171V</span> between breast cancer cases and controls (OR: 1.05; 95%CI: 0.64-1.74, P=0.9).
|
18049891 |
2008 |
|
Malignant neoplasm of breast
|
|
0.060 |
GeneticVariation
|
BEFREE |
A meta-analysis of all hitherto available studies did not reveal a difference in the prevalence of I171V</span> between breast cancer cases and controls (OR: 1.05; 95%CI: 0.64-1.74, P=0.9).
|
18049891 |
2008 |
|
Malignant neoplasm of breast
|
|
0.060 |
GeneticVariation
|
BEFREE |
The histopathological and clinical features of breast cancer</span> with I171V mutation suggest accumulation of the negative prognostic factors.
|
17899368 |
2008 |
|
Breast Carcinoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
The aim of the study was to analyse the frequency of I171V mutation in NBS1 gene in 270 women with breast cancer, 176 patients with larynx cancer, 81 with second primary tumours of head and neck, 131 with colorectal carcinoma and 600 healthy individuals.
|
18280732 |
2008 |
|
Malignant neoplasm of breast
|
|
0.060 |
GeneticVariation
|
BEFREE |
The aim of the study was to analyse the frequency of I171V mutation in NBS1 gene in 270 women with breast cancer, 176 patients with larynx cancer, 81 with second primary tumours of head and neck, 131 with colorectal carcinoma and 600 healthy individuals.
|
18280732 |
2008 |
|
Breast Carcinoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
The histopathological and clinical features of breast cancer</span> with I171V mutation suggest accumulation of the negative prognostic factors.
|
17899368 |
2008 |
|
Malignant neoplasm of breast
|
|
0.060 |
GeneticVariation
|
BEFREE |
Among these, an association with cancer was found most frequently for 657del5 (in leukemia/lymphoma and breast cancer) and I171V (in leukemia, breast, head and neck and colorectal cancers); however, other studies gave contradictory results.
|
18606567 |
2008 |