|
Aplastic Anemia
|
|
0.720 |
CausalMutation
|
CLINVAR |
|
|
|
|
Childhood Acute Lymphoblastic Leukemia
|
|
0.720 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Aplastic Anemia
|
|
0.720 |
GeneticVariation
|
BEFREE |
This is the first report of AA with a homozygous I171V mutation.
|
15338273 |
2004 |
|
Hematologic Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
We screened healthy controls and pediatric patients with hematological malignancies and aplastic anemia (AA) for the presence of I171V.
|
15338273 |
2004 |
|
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 |
|
Precursor Cell Lymphoblastic Leukemia Lymphoma
|
|
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 |
|
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 |
|
Primary malignant neoplasm
|
|
0.040 |
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 larynx
|
|
0.030 |
GeneticVariation
|
BEFREE |
These findings imply that heterozygous carriers of the I171V mutation are prone to the development of larynx cancer and may, in addition, display an increased risk of second tumors at other sites.
|
17894553 |
2007 |
|
Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
These findings imply that heterozygous carriers of the I171V</span> mutation are prone to the development of larynx cancer and may, in addition, display an increased risk of second tumors at other sites.
|
17894553 |
2007 |
|
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 histopathological and clinical features of breast cancer</span> with I171V mutation suggest accumulation of the negative prognostic factors.
|
17899368 |
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 |
|
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 |
|
leukemia
|
|
0.030 |
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 neoplasm of larynx
|
|
0.030 |
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 |
I171V mutation was present in 17 cancer patients compared with only one in healthy individuals.
|
18280732 |
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 |
|
Primary malignant neoplasm
|
|
0.040 |
GeneticVariation
|
BEFREE |
I171V mutation was present in 17 cancer patients compared with only one in healthy individuals.
|
18280732 |
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 |
|
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 |
|
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 |
|
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 |