Homologous recombination repair polymorphisms and the risk for osteosarcoma
Kovač, Viljem (Author), Dolžan, Vita (Author), Jazbec, Janez (Author), Goričar, Katja (Author), Lamovec, Janez (Author)

URLURL - Presentation file, Visit http://dx.doi.org/10.2478/jomb-2014-0031 This link opens in a new window

Background: DNA repair mechanisms are essential for maintaining genome stability, and genetic variability in DNA repair genes may contribute to cancer susceptibility. Our aim was to evaluate the influence of polymorphisms in the homologous recombination repair genes XRCC3, RAD51, and NBN on the risk for osteosarcoma. Methods: In total, 79 osteosarcoma cases and 373 controls were genotyped for eight single nucleotide polymorphisms (SNPs) in XRCC3, RAD51, and NBN. Logistic regression was used to determine the association of these SNPs with risk for osteosarcoma. Results: None of the investigated SNPs was associated with risk for osteosarcoma in the whole cohort of patients, however, in patients diagnosed before the age of thirty years XRCC3 rs861539 C>T and NBN rs1805794 G>C were associated with significantly decreased risk for osteosarcoma (P=0.047, OR=0.54, 95% CI=0.30-0.99 and P=0.036, OR=0.42, 95% CI=0.19-0.94, respectively). Moreover, in the carriers of a combination of polymorphic alleles in both SNPs risk for osteosarcoma was decreased even more significantly (Ptrend=0.007). The risk for developing osteosarcoma was the lowest in patients with no wild-type alleles for both SNPs (P=0.039, OR=0.31, 95% CI=0.10-0.94). Conclusions: Our results suggest that polymorphisms in homologous recombination repair genes might contribute to risk for osteosarcoma in patients diagnosed below the age of thirty years.

Keywords:osteosarcoma, DNA repair, polymorphism
Work type:Not categorized (r6)
Tipology:1.01 - Original Scientific Article
Organization:MF - Faculty of Medicine
Number of pages:str. 200-206
Numbering:Vol. 34, no. 2
ISSN on article:1452-8258
DOI:10.2478/jomb-2014-0031 Link is opened in a new window
COBISS.SI-ID:31398361 Link is opened in a new window
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Record is a part of a journal

Title:Journal of Medical Biochemistry
Shortened title:J. Med. Biochem.
Publisher:Society of Medical Biochemists of Serbia, Pharmaceutical Faculty
COBISS.SI-ID:518057241 This link opens in a new window

Secondary language

Title:Polimorfizam gena odgovornih za reparaciju DNK homolognom rekombinacijom i rizik za pojavu osteosarkoma
Keywords:osteosarkom, popravilo DNA, polimorfizem

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