Single Nucleotide Polymorphisms in the Homologous Recombination Repair Genes and Breast Cancer Risk in Polish Women

Romanowicz-Makowska, Hanna; Smolarz, Beata; Zadrożny, Marek; Westfal, Bogusław; Baszczyński, J; Połać, Ireneusz; Sporny, Stanisław

doi:10.1620/tjem.224.201

Cited by 40 publications

(28 citation statements)

References 39 publications

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“…Linking variation in polymorphic sites of the XRCC2 and XRCC3 has been conducted for various cancer types [22][23][24]. It was found that the XRCC3 Th r241Met polymorphism was associated with the risk of breast cancer [25].…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms in DNA repair genes XRCC2 and XRCC3 risk of gastric cancer in Turkey

et al. 2014

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We studied the prevalence of polymorphisms in genes XRCC2 and XRCC3 in stomach cancer patients who lived in North Eastern Turkey. A total of 61 cancer patients and 78 controls were included in this study. Single nucleotide changes were studied in XRCC2 and XRCC3 genes at locus Arg188His and Th r241Met. Blood samples were taken from the patients and controls, and DNA was isolated. Th e regions of interest were amplifi ed using a polymerase chain reaction method. After amplifi cation, we used restriction enzymes (HphI and NcoI) to digest the amplifi ed product. Digested product was then run through gel electrophoresis. We identifi ed changes in the nucleotides in these specifi c regions. It was found that the Arg188His polymorphism of the XRCC2 gene was about 39 (24 out of the 61) among cancer patients. However, only 15 (12 out of 78) of the control group indicated this polymorphism. We also observed that 18 of the 61 cancer patients (29) carried the Th r241Met polymorphism of the XRCC3 gene whereas 11 of the 78 (14) individuals in the control group had the polymorphism. Our results showed a signifi cant diff erence in polymorphism ratios between the cancer patients and health control group for the regions of interest. Th is result clearly showed that these polymorphisms increase the risk of stomach cancer and might be a strong marker for early diagnosis of gastric cancer.

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Section: Discussionmentioning

confidence: 99%

Polymorphisms in DNA repair genes XRCC2 and XRCC3 risk of gastric cancer in Turkey

et al. 2014

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“…RAD51 is known to play its role in all three stages of HR and catalyses the invasion of broken ends of the DSB into intact sister chromatid . Common RAD51 SNPs (single nucleotide polymorphism) 135 G>C (rs1801320) in the 5'UTR have been reported to be associated with altered gene transcription and might be involve in mammary carcinogenesis (Jara et al, 2010;Sliwinski et al, 2010;Romanowicz-Makoeska et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

Correlation between Selected XRCC2, XRCC3 and RAD51 Gene Polymorphisms and Primary Breast Cancer in Women in Pakistan

Qureshi¹,

Mahjabeen²,

Baig³

et al. 2015

Asian Pacific Journal of Cancer Prevention

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Genetic polymorphisms in homologous recombination repair genes cause an abnormal development of cancerous cells. In the present study we evaluated the possibility of breast cancer association with single nucleotide polymorphisms of RAD51, XRCC2 and XRCC3 genes. Polymorphisms selected in this study were RAD51 135G/C, XRCC2 Arg188His; and XRCC3 Thr241Met. Each polymorphism was genotyped using Polymerase chain reaction-restriction fragment length polymorphism in study cohort of 306 females (156 breast cancer patients and 150 controls). We observed that heterozygous variant genotype (GC) of RAD51 135 G/C polymorphism was associated with a significantly (OR=2.70; 95%CI (0.63-1.79); p<0.03) increased risk of breast cancer. In case of the XRCC3 gene we observed that frequency of heterozygous (OR=2.88; 95%CI (1.02-8.14); p<0.02) and homozygous (OR=1.46; 95%CI (0.89-2.40); p<0.04) genotype of Thr241Met polymorphism were significantly higher in breast cancer patients. For the Arg188His polymorphism of XRCC2, ~2fold increase in breast cancer risk (OR=1.6, 95%CI = 0.73-3.50) was associated with GA genotype with a p value for trend of 0.03. Our results suggest that the 135G/C polymorphism of the RAD51, Thr241Met polymorphism of XRCC3 and Arg188His polymorphism of XRCC2 can be independent markers of breast cancer risk in Pakistan.Keywords: XRCC2 -XRCC3 -RAD51 -breast cancer -RFLP.

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“…A number of studies suggest a link between deficient repair of DNA double strand breaks (DSB) and genetic predisposition to hereditary as well as sporadic breast cancer [4][5][6][7][8].…”

Section: Introductionmentioning

confidence: 99%

RAD51 genotype and triple-negative breast cancer (TNBC) risk in Polish women

Smolarz¹,

Zadrożny²,

Duda-Szymańska³

et al. 2013

pjp

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The most lethal damage for the cell among all damage is double-strand breaks (DSB) of DNA. DSB cause development of cancer diseases including the triple-negative molecular subtype of breast cancer. The aim of this work was to evaluate the single nucleotide polymorphism -135G>C (rs1801320) of the RAD51 gene encoding DNA repair proteins by homologous recombination (HR) in triple-negative breast cancer (TNBC). We assessed the RAD51 -135G>C polymorphism in 50 women with triple-negative breast cancer and in 50 women from the control group. RAD51 polymorphism was analysed by the PCR-RFLP (restriction fragment length polymorphism) technique. Our results demonstrated a significant positive association between the RAD51 C/C genotype and TNBC, with an adjusted odds ratio (OR) of 5.95 (p = 0.002). The homozygous C/C genotype was found in 68% of breast cancer cases and 20% of controls. The variant 135C allele of RAD51 increased TNBC risk. This is the first study linking single nucleotide polymorphisms of the RAD51 gene with TNBC incidence in the population of Polish women. In conclusion, RAD51 polymorphisms may be regarded as predictive factors of triple-negative breast cancer in the female population. Large studies are needed to confirm our findings.

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Single Nucleotide Polymorphisms in the Homologous Recombination Repair Genes and Breast Cancer Risk in Polish Women

Cited by 40 publications

References 39 publications

Polymorphisms in DNA repair genes XRCC2 and XRCC3 risk of gastric cancer in Turkey

Polymorphisms in DNA repair genes XRCC2 and XRCC3 risk of gastric cancer in Turkey

Correlation between Selected XRCC2, XRCC3 and RAD51 Gene Polymorphisms and Primary Breast Cancer in Women in Pakistan

RAD51 genotype and triple-negative breast cancer (TNBC) risk in Polish women

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