Mutagen Sensitivity and DNA Repair Gene Polymorphisms in Hereditary and Sporadic Breast Cancer

2005 ◽  
Author(s):  
Luisel J. Santi-Ruiz
Genetika ◽  
2015 ◽  
Vol 47 (2) ◽  
pp. 733-739 ◽  
Author(s):  
Sahar Gohari-Lasaki ◽  
Jalal Gharesouran ◽  
Morteza Ghojazadeh ◽  
Vahid Montazeri ◽  
Hakimeh Saadatian ◽  
...  

DNA-repair systems are essential for repairing damage that occurs when there is recombination between homologous chromosomes. The gene XRCC3 (X-ray cross complementing group 3) encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. The Thr241Met XRCC3-18067C>T, rs861539) substitution, a C to T transition at codon 241 in exon7, thus plays critical roles in cancer development. The aim of this study was association between XRCC3 Thr241Met polymorphism and risk of sporadic breast cancer in Azari population. We analysed DNA samples from 100 sporadic breast cancer patients and 100 healthy women, for XRCC3 Thr241Met polymorphism using PCR-RFLP. Genotype specific risks were tested using chi-test with 95% confident intervals. Frequency of Thr/Thr at codon 241was 69% in controls and 70% in patients, Thr/Met frequency was 22% in controls and 13 % in patients, the Met/Met genotype was 9% incontrols and 17% in patients. No correlation between the genotype and allele distribution and increased susceptibility for breast Cancer. Our results suggested that in pre-menopausal women, breast cancer riskis not significantly associated with rs861539 in Azari population.


2014 ◽  
Vol 41 (3) ◽  
pp. 458-465 ◽  
Author(s):  
Gustavo Martelli Palomino ◽  
Carmen L. Bassi ◽  
Isabela J. Wastowski ◽  
Danilo J. Xavier ◽  
Yara M. Lucisano-Valim ◽  
...  

Objective.Patients with systemic sclerosis (SSc) exhibit increased toxicity when exposed to genotoxic agents. In our study, we evaluated DNA damage and polymorphic sites in 2 DNA repair genes (XRCC1Arg399Gln andXRCC4Ile401Thr) in patients with SSc.Methods.A total of 177 patients were studied for DNA repair gene polymorphisms. Fifty-six of them were also evaluated for DNA damage in peripheral blood cells using the comet assay.Results.Compared to controls, the patients as a whole or stratified into major clinical variants (limited or diffuse skin involvement), irrespective of the underlying treatment schedule, exhibited increased DNA damage.XRCC1(rs: 25487) andXRCC4(rs: 28360135) allele and genotype frequencies observed in patients with SSc were not significantly different from those observed in controls; however, theXRCC1Arg399Gln allele was associated with increased DNA damage only in healthy controls and theXRCC4Ile401Thr allele was associated with increased DNA damage in both patients and controls. Further, theXRCC1Arg399Gln allele was associated with the presence of antinuclear antibody and anticentromere antibody. No association was observed between these DNA repair gene polymorphic sites and clinical features of patients with SSc.Conclusion.These results corroborate the presence of genomic instability in SSc peripheral blood cells, as evaluated by increased DNA damage, and show that polymorphic sites of theXRCC1andXRCC4DNA repair genes may differentially influence DNA damage and the development of autoantibodies.


Gene ◽  
2016 ◽  
Vol 578 (1) ◽  
pp. 112-116 ◽  
Author(s):  
Randa H. Mohamed ◽  
Amal S. El-Shal ◽  
Eman E. El-Shahawy ◽  
Sahar M. Abdel Galil

PLoS ONE ◽  
2015 ◽  
Vol 10 (5) ◽  
pp. e0129374 ◽  
Author(s):  
Zoraida Verde ◽  
Luis Reinoso ◽  
Luis Miguel Chicharro ◽  
Pilar Resano ◽  
Ignacio Sánchez-Hernández ◽  
...  

2017 ◽  
Vol 12 (11) ◽  
pp. S1927
Author(s):  
J. Spasic ◽  
A. Krivokuca ◽  
B. Zaric ◽  
D. Radosavljevic ◽  
B. Perin ◽  
...  

2005 ◽  
Vol 34 (6) ◽  
pp. 1310-1318 ◽  
Author(s):  
Chun-Chieh Chen ◽  
Shi-Yi Yang ◽  
Chun-Jen Liu ◽  
Chih-Lin Lin ◽  
Yun-Fan Liaw ◽  
...  

Mutagenesis ◽  
2017 ◽  
Vol 32 (5) ◽  
pp. 501-509 ◽  
Author(s):  
Maxim Yu Sinitsky ◽  
Varvara I Minina ◽  
Maxim A Asanov ◽  
Arseniy E Yuzhalin ◽  
Anastasia V Ponasenko ◽  
...  

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