Background: DNA repair is one of the crucial defense mechanism against mutagenic exposure. Inherited SNPs of DNA repair genes may contribute to variation in DNA repair capacity and susceptibility to cancer. Due to the presence of these variants, inter-individual and ethnic differences in DNA repair capacity have been established in various populations. India harbors enormous genetic and cultural diversity.
Materials And Methods: In the present study we aimed to determine the genotypes and allele frequencies of XRCC1 Arg399Gln (rs25487), XRCC3 Thr241Met (rs861539), XPD Lys751Gln (rs13181), and OGG1 Ser326Cys (rs1052133) gene polymorphisms in 186 healthy individuals residing in the Hyderabad region of India and to compare them with HapMap and other populations.
Results And Conclusions: The genotype and allele frequency distribution at the four DNA repair gene loci among Hyderabad population of India revealed a characteristic pattern. Comparison of these gene polymorphisms with other populations revealed a distinctiveness of Hyderabad population from the Deccan region of India. To the best of our knowledge, this is the first report of such DNA repair gene polymorphisms in the Deccan Indian population.
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http://dx.doi.org/10.7314/apjcp.2012.13.12.6469 | DOI Listing |
Asia Pac J Clin Oncol
January 2025
LifeStrands Genomics Australia, Mount Waverley, Victoria, Australia.
Some patients with metastatic castration-resistant prostate cancer (mCRPC) possess germline or acquired defects in the DNA damage repair (DDR) genes BRCA1 and BRCA2. Tumors with BRCA mutations exhibit sensitivity to poly-ADP ribose polymerase inhibitors (PARPi) such as olaparib and rucaparib. As a result, molecular diagnostic testing to identify patients with BRCA mutations eligible for the PARPi therapy has become an integral component of managing patients with mCRPC.
View Article and Find Full Text PDFJ Appl Toxicol
January 2025
Department of Biosciences, Institute of Health and Society, Federal University of São Paulo, UNIFESP, Santos, São Paulo, Brazil.
The present systematic review aims to put together human population studies that include some relationship between genetic polymorphisms and genotoxicity as well as to evaluate the quality of the published studies induced by cigarette smoke exposure in vivo. The present systematic review was built according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) criteria. Different genotoxicity assays were used by different authors, although the major goal was the genotoxicity assessment by means of micronucleus, comet, sister chromatid exchange, and chromosomal aberration assays.
View Article and Find Full Text PDFNPJ Precis Oncol
January 2025
Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Pancreatic ductal adenocarcinoma (PDAC) is notably resistant to conventional chemotherapy and radiation treatment. However, clinical trials indicate that carbon ion radiotherapy (CIRT) with concurrent gemcitabine is effective for unresectable locally advanced PDAC. This study aimed to identify patient characteristics predictive of CIRT response.
View Article and Find Full Text PDFSci Rep
January 2025
Amsterdam UMC, Location VUmc, Cancer Center Amsterdam, de Boelelaan 1117, 1018 HV, Amsterdam, The Netherlands.
Bladder cancer often recurs, necessitating innovative treatments to reduce recurrence. We investigated non-thermal plasma's potential as a novel anti-cancer therapy, focusing on plasma-activated solution (PAS), created by exposing saline to non-thermal plasma. Our study aims to elucidate the biological effects of PAS on bladder cancer cell lines in vitro, as well as the combination with mitomycin C (MMC), using clinically relevant settings.
View Article and Find Full Text PDFNat Commun
January 2025
Laboratory of Genome Diversification & Integrity, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, 13125, Berlin, Germany.
The establishment of protective immune responses relies on the ability of terminally differentiated B cells to secrete a broad variety of antigen-specific antibodies with different effector functions. RIF1 is a multifunctional protein that promotes antibody isotype diversification via its DNA end protection activity during class switch recombination. In this study, we showed that RIF1 ablation resulted in increased plasmablast formation ex vivo and enhanced terminal differentiation into plasma cells upon immunization.
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