DNA repair polymorphisms might contribute differentially on familial and sporadic breast cancer susceptibility: a study on a Portuguese population

Costa, Sandra; Pinto, Daniela; Pereira, Deolinda; Rodrigues, Helena; Cameselle-Teijeiro, Jorge F; Medeiros, Rui; Schmitt, Fernando

doi:10.1007/s10549-006-9364-z

Cited by 81 publications

(70 citation statements)

References 56 publications

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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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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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“…Data of literature suggest that RAD51 gene 135G>C polymorphism may contribute to head and neck cancer and mammary carcinogenesis [11][12][13][14][15][16][17]. A study of women matched for BRCA1 mutation revealed that the C allele of this polymorphism is associated with a 2-fold reduction in the breast and ovarian cancer risk as compared with the wild-type G allele [18].…”

Section: Introductionmentioning

confidence: 99%

RAD51 gene polymorphisms and sporadic colorectal cancer risk in Poland

Romanowicz-Makowska¹,

Samulak²,

Michalska³

et al. 2012

pjp

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Background: DNA repair processes play an important role in protection against carcinogenic factors. Mutations in DNA repair genes, which code proteins engaged in repair processes, may lead to carcinogenesis and among others also to colorectal cancer (CRC) development. The genetic variability in RAD51 may contribute to the appearance and progression of various cancers including CRC. The aim of the study was to compare the distribution of genotypes of RAD51 135G>C and 172G>T polymorphism between colorectal cancer patients and controls. Material and methods: Both polymorphisms were evaluated by PCR-RFLP methods in colorectal tissue of 320 colorectal cancer subjects and 320 healthy subjects who served as controls. Results:In the present work we demonstrated a significant positive association between the RAD51 C/C genotype and colorectal carcinoma. Variant 135C allele of RAD51 increased the cancer risk. However, we did not observe any relationship between each polymorphism and colorectal cancer progression assessed by node metastasis, tumour size and Dukes' stage. Conclusions: Our results suggest that variant genotypes of the 135G>C of RAD51 polymorphism may be positively associated with colorectal carcinoma in the Polish population. Further studies conducted on a larger group are required to clarify this point.

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“…Moreover, rs373572 was found to be a unique SNP located in the coding-region of RAD18 in the present study. RAD18 has several functional domains, including RING-finger motif [37] , zinc-finger motif [38] and E3 ubiquitin-ligase domain [39] . Because rs373572 is located in the E3 ubiquitin-ligase domain, it might affect the E3 ubiquitin-ligase activity of RAD18 and further influence the ubiquitination of PCNA and activation of TLS.…”

Section: Discussionmentioning

confidence: 99%

RAD18 polymorphisms are associated with platinum-based chemotherapy toxicity in Chinese patients with non-small cell lung cancer

Chu

Shao

et al. 2016

Acta Pharmacol Sin

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Aim: Although targeted therapy is very efficient for lung cancer, traditional platinum-based chemotherapies are still the principal strategy in the absence of positive biomarkers. The aim of the present study is to evaluate the contribution of RAD18 polymorphisms to platinum-chemotherapy response and its potential side effects in Chinese patients with non-small cell lung cancer (NSCLC). Methods: A total of 1021 Chinese patients with histological diagnosis of advanced NSCLC were enrolled. Treatment responses were classified into 4 categories (complete response, partial response, stable disease and progressive disease). Gastrointestinal and hematological toxicity incidences were assessed twice a week during the first-line treatment. Ten RAD18 SNPs were genotyped. A logistic regression model was utilized to analyze the associations between RAD18 SNPs and treatment response or toxicity. Results: Among the 10 SNPs tested, none was significantly correlated with the treatment response in a combined cohort. For gastrointestinal toxicity incidences, rs586014 was significantly associated with an increased risk of grade 3 or 4 gastrointestinal toxicity in non-smokers and in the combined cohort; rs654448 and rs618784 were significantly associated with gastrointestinal toxicity in non-smokers; rs6763823 was significantly associated with gastrointestinal toxicity in smokers. For hematological toxicity incidences, rs586014, rs654448 and rs618784 were significantly associated with hematologic toxicity in non-smokers; rs6763823 and rs9880051 were significantly associated with leukocytopenia in smokers. Conclusion: RAD18 polymorphisms are correlated with the side effects of platinum-chemotherapy in Chinese patients with advanced NSCLC.

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DNA repair polymorphisms might contribute differentially on familial and sporadic breast cancer susceptibility: a study on a Portuguese population

Cited by 81 publications

References 56 publications

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

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

RAD51 gene polymorphisms and sporadic colorectal cancer risk in Poland

RAD18 polymorphisms are associated with platinum-based chemotherapy toxicity in Chinese patients with non-small cell lung cancer

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