Polymorphisms in base excision DNA repair genes and association with melanoma risk in a pilot study on Central-South Italian population

2012 ◽  
Vol 413 (19-20) ◽  
pp. 1519-1524 ◽  
Author(s):  
Concetta Santonocito ◽  
Margherita Scapaticci ◽  
Romina Penitente ◽  
Andrea Paradisi ◽  
Rodolfo Capizzi ◽  
...  
Keyword(s):  
Dna Repair ◽  
Pilot Study ◽  
Italian Population ◽  
Dna Repair Genes ◽  
Melanoma Risk ◽  
Base Excision ◽  
Base Excision Dna Repair ◽  
Repair Genes ◽  
Central South

scholarly journals Expression of Base Excision DNA Repair Genes Is a Sensitive Biomarker for in Vivo Detection of Chemical-induced Chronic Oxidative Stress

2004 ◽  
Vol 64 (3) ◽  
pp. 1050-1057 ◽  
Author(s):  
Ivan Rusyn ◽  
Shoji Asakura ◽  
Brian Pachkowski ◽  
Blair U. Bradford ◽  
Mikhail F. Denissenko ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Dna Repair ◽  
Dna Repair Genes ◽  
In Vivo Detection ◽  
Chronic Oxidative Stress ◽  
Base Excision ◽  
Base Excision Dna Repair ◽  
Repair Genes

Expression of base excision DNA repair genes as a biomarker of oxidative DNA damage

2005 ◽  
Vol 229 (1) ◽  
pp. 1-11 ◽  
Author(s):  
Christine L. Powell ◽  
James A. Swenberg ◽  
Ivan Rusyn
Keyword(s):  
Dna Damage ◽  
Dna Repair ◽  
Oxidative Dna Damage ◽  
Dna Repair Genes ◽  
Base Excision ◽  
Base Excision Dna Repair ◽  
Repair Genes

Environmental exposure to benzene, micronucleus formation and polymorphisms in DNA-repair genes: A pilot study

2012 ◽  
Vol 743 (1-2) ◽  
pp. 99-104 ◽  
Author(s):  
Sabrina Angelini ◽  
Francesca Maffei ◽  
Justo Lorenzo Bermejo ◽  
Gloria Ravegnini ◽  
Domenica L’Insalata ◽  
...  
Keyword(s):  
Dna Repair ◽  
Pilot Study ◽  
Environmental Exposure ◽  
Dna Repair Genes ◽  
Micronucleus Formation ◽  
Repair Genes

Genetic manipulation in Sulfolobus islandicus and functional analysis of DNA repair genes

2013 ◽  
Vol 41 (1) ◽  
pp. 405-410 ◽  
Author(s):  
Changyi Zhang ◽  
Bin Tian ◽  
Suming Li ◽  
Xiang Ao ◽  
Kevin Dalgaard ◽  
...  
Keyword(s):  
Dna Repair ◽  
Genetic Manipulation ◽  
Excision Repair ◽  
Model Organism ◽  
Dna Repair Genes ◽  
Repair Capacity ◽  
Dna Repair Capacity ◽  
Sulfolobus Islandicus ◽  
Base Excision ◽  
Repair Genes

Recently, a novel gene-deletion method was developed for the crenarchaeal model Sulfolobus islandicus, which is a suitable tool for addressing gene essentiality in depth. Using this technique, we have investigated functions of putative DNA repair genes by constructing deletion mutants and studying their phenotype. We found that this archaeon may not encode a eukarya-type of NER (nucleotide excision repair) pathway because depleting each of the eukaryal NER homologues XPD, XPB and XPF did not impair the DNA repair capacity in their mutants. However, among seven homologous recombination proteins, including RadA, Hel308/Hjm, Rad50, Mre11, HerA, NurA and Hjc, only the Hjc nuclease is dispensable for cell viability. Sulfolobus encodes redundant BER (base excision repair) enzymes such as two uracil DNA glycosylases and two putative apurinic/apyrimidinic lyases, but inactivation of one of the redundant enzymes already impaired cell growth, highlighting their important roles in archaeal DNA repair. Systematically characterizing these mutants and generating mutants lacking two or more DNA repair genes will yield further insights into the genetic mechanisms of DNA repair in this model organism.

scholarly journals Modulation of Colorectal Cancer Risk by Polymorphisms in 51Gln/His, 64Ile/Val, and 148Asp/Glu of APEX Gene; 23Gly/Ala of XPA Gene; and 689Ser/Arg of ERCC4 Gene

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
L. Dziki ◽  
A. Dziki ◽  
M. Mik ◽  
I. Majsterek ◽  
J. Kabzinski
Keyword(s):  
Colorectal Cancer ◽  
Dna Repair ◽  
Malignant Transformation ◽  
Excision Repair ◽  
Control Group ◽  
Dna Repair Genes ◽  
Nucleotide Excision ◽  
Base Excision ◽  
The Impact ◽  
Repair Genes

Polymorphisms in DNA repair genes may affect the activity of the BER (base excision repair) and NER (nucleotide excision repair) systems. Using DNA isolated from blood taken from patients (n=312) and a control group (n=320) with CRC, we have analyzed the polymorphisms of selected DNA repair genes and we have demonstrated that genotypes 51Gln/His and 148Asp/Glu of APEX gene and 23Gly/Ala of XPA gene may increase the risk of colorectal cancer. At the same time analyzing the gene-gene interactions, we suggest the thesis that the main factor to be considered when analyzing the impact of polymorphisms on the risk of malignant transformation should be intergenic interactions. Moreover, we are suggesting that some polymorphisms may have impact not only on the malignant transformation but also on the stage of the tumor.

Truncating variants in DNA-repair genes and their effect on AAO of hereditary breast cancer

2018 ◽  
Author(s):  
I Sepahi ◽  
U Faust ◽  
M Sturm ◽  
K Bosse ◽  
M Kehrer ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Repair ◽  
Hereditary Breast Cancer ◽  
Dna Repair Genes ◽  
Repair Genes
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