|
rs34767364
|
|
|
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 |
|
rs34767364
|
|
|
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 |
|
rs34767364
|
|
|
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 |
|
rs34767364
|
|
|
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 |
|
rs587776650
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The vast majority of patients with Nijmegen Breakage Syndrome (NBS) are of Slavic origin and carry a deleterious deletion (c.657del5; rs587776650) in the NBN gene on chromosome 8q21.
|
27936167 |
2016 |
|
rs1225178489
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Nijmegen breakage syndrome (NBS) cells stably transfected with an empty vector or with S343A-NBS1 or S278A/S343A phospho-mutants were unable to hyperphosphorylate RPA in DNA-damage-associated foci following HU treatment.
|
18003706 |
2007 |
|
rs1225178489
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Telomere loss showed no correlation with radiosensitivity or radioresistant DNA synthesis, demonstrating that NBS1(S278A/S343A) promotes telomere loss through a separate pathway from these other phenotypes associated with NBS.
|
14707289 |
2003 |
|
rs1061302
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A total of 5 tagging single-nucleotide polymorphisms (rs2299941 of PTEN, rs2735385, rs6999227, rs1805812, and rs1061302 of Nijmegen breakage syndrome 1) were tightly associated with breast cancer risk in sporadic cases, and 5 other tagging single-nucleotide polymorphisms (rs1042522 of TP53, rs2735343 of PTEN, rs7220719, rs16945628, and rs11871753 of BRCA1-interacting protein 1) were tightly associated with breast cancer risk in familial and early-onset cases.
|
30799775 |
2018 |