|
Nijmegen Breakage Syndrome
|
|
0.740 |
GeneticVariation
|
BEFREE |
Patients with NBS compound heterozygous for the 657del5 hypomorphic mutation and for the Arg215Trp missense mutation (corresponding to the 643C>T gene mutation) display a clinical phenotype more severe than that of patients homozygous for the 657del5 mutation.
|
22941933 |
2012 |
|
Nijmegen Breakage Syndrome
|
|
0.740 |
GeneticVariation
|
BEFREE |
Present data represent the first evidence for the role of NBS1 tandem BRCT domains in gamma-H2AX recognition, and could explain the severe phenotype observed in 657del5/R215W NBS patients.
|
18328813 |
2008 |
|
Nijmegen Breakage Syndrome
|
|
0.740 |
GeneticVariation
|
BEFREE |
The combined data are in line with an about 3-fold increase in breast cancer risk for female NBS heterozygotes (OR 3.1; 95%CI 1.4-6.6) and indicate that the 657del5 deletion and perhaps the R</span>215W substitution contribute to inherited breast cancer susceptibility in Central and Eastern Europe.
|
17957789 |
2008 |
|
Nijmegen Breakage Syndrome
|
|
0.740 |
GeneticVariation
|
BEFREE |
Here, we describe for the first time a severe form of NBS without chromosomal instability in monozygotic twin brothers with profound congenital microcephaly and developmental delay who are compound heterozygotes for the 657del5 and 643C>T(R215W) NBS1 mutations.
|
16033915 |
2006 |
|
Nijmegen Breakage Syndrome
|
|
0.740 |
CausalMutation
|
CLINVAR |
|
|
|
|
Malignant Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
These results suggest that rs2735383, rs1063054, I171V, 657del5 and R215W are low-penetrance risk factors for cancer development.
|
24113799 |
2013 |
|
Malignant Neoplasms
|
|
0.040 |
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
|
|
0.040 |
GeneticVariation
|
BEFREE |
The risk of developing astrocytic malignancies is estimated to be 1.33 times higher for c.657_661del5 and 3.2 times higher for c.643C>T than in the general Polish population (P > 0.05).
|
19629396 |
2010 |
|
Malignant Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
The pooled frequencies of 657del5 and R215W mutations in all cancer patients were also significantly higher than in controls (p < 0.05).
|
15185344 |
2004 |
|
Malignant neoplasm of breast
|
|
0.030 |
GeneticVariation
|
BEFREE |
Our results indicate that the p.R215W mutation in the HCC1395 breast cancer cell line impairs NBN function, making this cell line a potentially useful cellular model for studying defective NBN protein within a mutant BRCA1 background.
|
24928521 |
2014 |
|
Breast Carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
Our results indicate that the p.R215W mutation in the HCC1395 breast cancer cell line impairs NBN function, making this cell line a potentially useful cellular model for studying defective NBN protein within a mutant BRCA1 background.
|
24928521 |
2014 |
|
Malignant neoplasm of breast
|
|
0.030 |
GeneticVariation
|
BEFREE |
The combined data are in line with an about 3-fold increase in breast cancer risk for female NBS heterozygotes (OR 3.1; 95%CI 1.4-6.6) and indicate that the 657del5 deletion and perhaps the R215W substitution contribute to inherited breast cancer susceptibility in Central and Eastern Europe.
|
17957789 |
2008 |
|
Breast Carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
The combined data are in line with an about 3-fold increase in breast cancer risk for female NBS heterozygotes (OR 3.1; 95%CI 1.4-6.6) and indicate that the 657del5 deletion and perhaps the R215W substitution contribute to inherited breast cancer susceptibility in Central and Eastern Europe.
|
17957789 |
2008 |
|
Malignant neoplasm of breast
|
|
0.030 |
GeneticVariation
|
BEFREE |
Most of the 657del5 mutation carriers were found among patients with melanoma (4/105), non-Hodgkin lymphoma (2/42) and breast cancer (4/224) and of the 234 patients with colorectal carcinoma 3 carried the 657del5 mutation and 3 others the R215W molecular variant.
|
15185344 |
2004 |
|
Breast Carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
Most of the 657del5 mutation carriers were found among patients with melanoma (4/105), non-Hodgkin lymphoma (2/42) and breast cancer (4/224) and of the 234 patients with colorectal carcinoma 3 carried the 657del5 mutation and 3 others the R215W molecular variant.
|
15185344 |
2004 |
|
Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
From stratification analyses, an effect modification of cancer risks was found in the subgroups of tumour site and ethnicity for rs2735383, whereas the I171V, 657del5 and R215W showed a deleterious effect of cancer susceptibility in the subgroups of tumour site.
|
24113799 |
2013 |
|
Primary malignant neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
These results suggest that rs2735383, rs1063054, I171V, 657del5 and R215W are low-penetrance risk factors for cancer development.
|
24113799 |
2013 |
|
Childhood Acute Lymphoblastic Leukemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
In addition, the substitution 643C>T (R215W) has also been found in excess among children with acute lymphoblastic leukemia (ALL).
|
16152606 |
2006 |
|
Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
Recently, another NBS1 mutation, 643C>T(R215W), with uncertain pathogenicity was found to have higher frequency among tumour patients of Slavic origin than in controls.
|
16033915 |
2006 |
|
Primary malignant neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
The pooled frequencies of 657del5 and R215W mutations in all cancer patients were also significantly higher than in controls (p < 0.05).
|
15185344 |
2004 |
|
Childhood Acute Lymphoblastic Leukemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
The R215W mutation was observed in one ALL but also in a population-based study and probably represents a rare sequence variant.
|
11325820 |
2001 |
|
Prostate carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
More detailed analyses of the E185Q polymorphism, along with a third rare variant (R215W), failed to show an association with prostate cancer.
|
16702373 |
2006 |
|
Malignant neoplasm of prostate
|
|
0.010 |
GeneticVariation
|
BEFREE |
More detailed analyses of the E185Q polymorphism, along with a third rare variant (R215W), failed to show an association with prostate cancer.
|
16702373 |
2006 |
|
Developmental delay (disorder)
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we describe for the first time a severe form of NBS without chromosomal instability in monozygotic twin brothers with profound congenital microcephaly and developmental delay who are compound heterozygotes for the 657del5 and 643C>T(R215W) NBS1 mutations.
|
16033915 |
2006 |
|
Global developmental delay
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we describe for the first time a severe form of NBS without chromosomal instability in monozygotic twin brothers with profound congenital microcephaly and developmental delay who are compound heterozygotes for the 657del5 and 643C>T(R215W) NBS1 mutations.
|
16033915 |
2006 |