Polymorphism of the homologous recombination repair genes RAD51 and XRCC3 in breast cancer

Krupa, Renata; Synowiec, Ewelina; Pawłowska, Elżbieta; Morawiec, Zbigniew; Sobczuk, Anna; Zadrożny, Marek; Woźniak, Katarzyna; Błasiak, Janusz

doi:10.1016/j.yexmp.2009.04.005

Cited by 58 publications

(39 citation statements)

References 25 publications

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“…Moreover, BC survival but not BC risk has been found to be associated with the GSTP-Ile105Val polymorphism (49). The G135C genotype of the RAD51 gene was not associated with susceptibility to BC, which is consistent with previous reports (50,51). In other studies the association of the G135C polymorphism with the development of BC was found to be influenced by BRCA status and age (52)(53)(54).…”

Section: Discussionsupporting

confidence: 84%

Polymorphisms and Mutations in GSTP1, RAD51, XRCC1 and XRCC3 Genes in Breast Cancer Patients

et al. 2017

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Background Genotoxic factors, including ionizing radiation and oxidative stress, are associated with genomic instability and development of breast cancer (BC). The homologous recombination DNA repair (HRR) pathway, base excision repair (BER) mechanism, and antioxidative enzymes are required as defense mechanisms against these DNA damaging agents. GSTP1, XRCC1, XRCC3 and RAD51 proteins are essential components of antioxidation, BER and HRR of DNA, respectively. Deficiencies in BER, HRR and antioxidation pathways are involved in the progression of cancer. Methods Genomic DNA was extracted from formalin-fixed, paraffin-embedded tissue and blood samples of BC patients of an Italian population. Genomic DNA was also extracted from blood specimens of a control group. DNA sequencing was performed for six single-nucleotide polymorphisms (SNPs) in the GSTP1, RAD51, XRCC1 and XRCC3 genes in BC patients and the control group. Results Two variants in the 5′-UTR of the XRCC3 (rs1799794 A/G) and RAD51 (rs1801321) genes showed a significant association with susceptibility to BC (OR = 4.125; 95% CI 1.057-16.102; p = 0.03 and OR = 2.04; 95% CI 0.4925-8.449; p = 0.007, respectively). Additionally, we reported 2 mutations in intron 7 of the XRCC3 gene, CTdel (rs543072564) and A/G (rs369703243). Conclusions Our results underscored the existence of an association between XRCC3-5′-UTR-A/G (rs1799794) and RAD51-5′-UTR G172T (rs1801321) genotypes and BC risk in an Italian population. The presence of mutations in the intronic region of the XRCC3 gene highlights the importance of more sequence screening of DNA repair genes for possible genetic penetrance in BC.

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Section: Discussionsupporting

confidence: 84%

Polymorphisms and Mutations in GSTP1, RAD51, XRCC1 and XRCC3 Genes in Breast Cancer Patients

et al. 2017

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“…However, other literature data were also found (Loizidou et al 2008;Krupa et al 2009;Sobczuk et al 2009). No significant associations were observed between the Thr241Met polymorphism and breast cancer in Cypriot women (Loizidou et al 2008).…”

Section: Discussionmentioning

confidence: 85%

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

Romanowicz-Makowska

Smolarz

Zadrożny³

et al. 2011

Tohoku J. Exp. Med.

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Genetic polymorphisms in homologous recombination repair genes that can lead to protein haploinsufficiency are generally associated with increased cancer risk. The aim of the present study was to evaluate associations between the risk of breast cancer and single nucleotide polymorphisms in the genes, encoding three key proteins of the homologous recombination repair: RAD51 (the human homologue of the E. coli RecA protein), X-ray repair cross-complementing group (XRCC) 2 and XRCC3. The polymorphisms studied were G135C of the RAD51 gene (c. −98 G>C; rs1801320), Arg188His of the XRCC2 gene (c. 563 G>A; rs3218536), and Thr241Met of the XRCC3 gene (c. 722 C>T; rs861539). Each polymorphism was genotyped by the PCR-RFLP (restriction fragment-length polymorphism) method in 700 Polish female patients with sporadic breast cancer and in 708 cancer-free women, who served as controls. In the present study, we showed the association between RAD51 G135C polymorphism and the incidence of breast cancer (p < 0.0001), but found no significant association with XRCC2 Arg188His or XRCC3 Thr241Met polymorphism. Instead, significant association was identified between XRCC2 Arg188His or XRCC3 Thr241Met polymorphism and breast cancer progression, assessed by the histological grading. However, each of these three polymorphisms was not associated with the tumor size or the lymph node metastases. This study provides evidence that links single nucleotide polymorphisms of RAD51 and XRCC2/3 genes with the risk of breast cancer in Polish women. In conclusion, RAD51 G135C, XRCC2 Arg188His and XRCC3 Thr241Met polymorphisms may be regarded as predictive factors of sporadic breast cancer in female population.

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“…no reporting of the relevant genotype frequencies, whereas the other [18] was excluded for examining the association between other XRCC3 polymorphisms and premenopausal breast cancer risk). As a result, 19 case-control articles [2,3,5,12,[19][20][21][22][23][24][25][26][27][28][29][30][31][32][33]] (23 case-control studies, considering that Breast Cancer Association Consortium has more than one studies included) were included in this meta-analysis; 20 case-control studies on non-Chinese subjects (19,575 cases and 21,125 controls) and three case-control studies [3,24,29] on Chinese subjects (1,216 cases and 1,112 controls). Table 1 presents in detail the results of the meta-analysis.…”

Section: Resultsmentioning

confidence: 99%

XRCC3 Thr241Met polymorphism and breast cancer risk: a meta-analysis

Economopoulos

Sergentanis

2009

Breast Cancer Res Treat

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HAL is a multi-disciplinary open access archive for the deposit and dissemination of scientific research documents, whether they are published or not. The documents may come from teaching and research institutions in France or abroad, or from public or private research centers. Abstract XRCC3 (X-ray repair complementing defective repair in Chinese hamster cells 3) is a member of the RecA/ Rad51-related protein family that participates in homologous recombination, maintaining chromosome stability and participating in DNA repair. Attention has been drawn upon the association of XRCC3 Thr241Met polymorphism with breast cancer risk. The present meta-analysis aims to examine whether XRCC3 Thr241Met polymorphism status is associated with breast cancer risk. Apart from the overall meta-analysis, separate analyses were performed on Chinese and non-Chinese populations, in order to investigate race-specific effects. Eligible articles were identified by a search of MEDLINE bibliographical database for the period up to August 2009. Twenty case-control studies on nonChinese subjects (19,575 cases and 21,125 controls) and three case-control studies on Chinese subjects (1,216 cases and 1,112 controls) were eligible. Pooled odds ratios (OR) were appropriately derived from fixed-effects or randomeffects models. At the overall analysis, the T allele was associated with elevated breast cancer risk mainly following a recessive model (pooled OR = 1.064, 95% CI: 1.007-1.124, fixed effects), given that the effect was more pronounced in homozygous carriers (pooled OR = 1.073, 95% CI: 1.010-1.140, fixed effects). The association seemed confined in non-Chinese populations, once again following a recessive model (pooled OR = 1.072, 95% CI: 1.014-1.133, fixed effects). Concerning Chinese populations, no consistent results were demonstrated. In conclusion, the XRCC3 Thr241Met T allele seems associated with elevated breast cancer risk in non-Chinese subjects. The need for additional studies on Chinese populations seems warranted.

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Polymorphism of the homologous recombination repair genes RAD51 and XRCC3 in breast cancer

Cited by 58 publications

References 25 publications

Polymorphisms and Mutations in GSTP1, RAD51, XRCC1 and XRCC3 Genes in Breast Cancer Patients

Polymorphisms and Mutations in GSTP1, RAD51, XRCC1 and XRCC3 Genes in Breast Cancer Patients

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

XRCC3 Thr241Met polymorphism and breast cancer risk: a meta-analysis

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