|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Co-depletion of BRCA2 and POLQ by siRNA markedly increased sensitivity of A549/DR cells to cisplatin, which was accompanied with impairment of double strand breaks (DSBs) repair reflected by prominent cell cycle checkpoint response, increased chromosomal aberrations and persistent colocalization of p-ATM and 53BP1 foci induced by cisplatin.
|
27533083 |
2016 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
These telomere end fusions constituted a significant portion of chromosome aberrations in Brca2-deficient cells.
|
22187435 |
2012 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Since un- or misrepaired DSB lead to chromosomal anomalies which may promote the development of breast cancer, we have studied the potential of mammography X-rays for immediate and delayed induction of chromosomal anomalies in human primary fibroblasts from BRCA1 and BRCA2 mutation carriers.
|
22788243 |
2012 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Chromosomal aberrations that were specific for BRCA2-mutated tumors included loss on chromosome arm 13q and 14q, and gain on 17q.
|
20614180 |
2012 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
The absence of both Rad52 and BRCA2 resulted in extensive chromosome aberrations, especially chromatid-type aberrations.
|
21148102 |
2011 |
|
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
We show that HR defective cells (BRCA2, Rad51D and XRCC3 mutants) are dramatically more sensitive to MMS-induced DNA damage as measured by colony formation, apoptosis and chromosomal aberrations, while NHEJ defective cells (Ku80 and DNA-PK(CS) mutants) are only mildly sensitive to the killing, apoptosis-inducing and clastogenic effects of MMS.
|
20708982 |
2010 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
BRCA1- and BRCA2-mutated breast cancers are associated with increased amounts of chromosomal aberrations, presumably due their functions in genome repair.
|
20735817 |
2010 |
|
Congenital chromosomal disease
|
0.100 |
AlteredExpression
|
group |
BEFREE |
BRCA2 protein interacts directly with the RAD51 recombinase and regulates recombination-mediated DSB repair, accounting for the high levels of spontaneous chromosomal aberrations seen in BRCA2-defective cells.
|
18066084 |
2007 |
|
Congenital chromosomal disease
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The high level of spontaneous chromosomal aberrations in Brca2 mutant cells was largely suppressed by the BRC-RPA fusion proteins, supporting the notion that the primary role of BRCA2 in maintaining genomic integrity is in HDR, specifically to deliver Rad51 to ssDNA.
|
16731627 |
2006 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Chromosomal aberrations in breast tumors from BRCA1 and BRCA2 germ-line mutation carriers are considerably more frequent than what is seen in sporadic breast tumors.
|
15521105 |
2004 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Familial ovarian tumors exhibit a significantly higher number of chromosomal aberrations and genomic imbalances and nonrandom genetic changes were characterized in the BRCA1 and BRCA2 groups.
|
13678737 |
2003 |
|
Congenital chromosomal disease
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Although the function of the BRCA2 protein remains to be determined, murine cells homozygous for BRCA2 inactivation display chromosomal aberrations.
|
11207365 |
2001 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Breast tumours from BRCA1 and BRCA2 mutation carriers are genetically instable and display specific patterns of chromosomal aberrations, suggestive of distinct genetic pathways in tumour progression.
|
9467939 |
1998 |
|
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We propose that the coexistence of this rare chromosomal abnormality with BRCA2 mutation may be augmenting the risk of male breast cancer conferred by the BRCA2 mutation.
|
9500439 |
1998 |