|
Acute lymphocytic leukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Four children with acute lymphoblastic leukemia have been reported to be heterozygous for a germline and/or somatic missense mutation in NBS1, leading to the I171V substitution.
|
15338273 |
2004 |
|
Adult Lymphoma
|
|
0.010 |
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 |
|
Adult Medulloblastoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our results indicate that heterozygous carriers of the germ-line NBN gene mutations (c.511A>G and c.657_661del5) may exhibit increased susceptibility to developing MB.
|
19908051 |
2010 |
|
Adult Medulloblastoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Among children with solid tumors only in 1 child with medulloblastoma I171V variant has been found.
|
21436738 |
2011 |
|
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 |
|
Aplastic Anemia
|
|
0.720 |
CausalMutation
|
CLINVAR |
|
|
|
|
Aplastic Anemia
|
|
0.720 |
GeneticVariation
|
BEFREE |
This is the first report of AA with a homozygous I171V mutation.
|
15338273 |
2004 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Carcinoma of larynx
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have previously shown that the p.I171V NBN gene mutation may contribute to the development of laryngeal cancer.
|
24079363 |
2013 |
|
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 |
|
Childhood Acute Lymphoblastic Leukemia
|
|
0.720 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Childhood Leukemia
|
|
0.020 |
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 |
|
Childhood Leukemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Additionally we confirmed the higher incidence of the p.I171V mutation in the leukemia group (7/220) than among controls (12/2400) (p<0.0001).
|
24093751 |
2013 |
|
Childhood Lymphoma
|
|
0.010 |
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 |
|
Childhood Medulloblastoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Among children with solid tumors only in 1 child with medulloblastoma I171V variant has been found.
|
21436738 |
2011 |
|
Childhood Medulloblastoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our results indicate that heterozygous carriers of the germ-line NBN gene mutations (c.511A>G and c.657_661del5) may exhibit increased susceptibility to developing MB.
|
19908051 |
2010 |
|
Colorectal Carcinoma
|
|
0.020 |
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 |
|
Colorectal Carcinoma
|
|
0.020 |
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 |
|
Congenital chromosomal disease
|
|
0.010 |
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 |