RAD51 135G&gt;C polymorphism and risk of familial breast cancer in a South American population

Jara, Lilian; Acevedo, Mónica L.; Blanco, Rafael; Castro, Victor; Bravo, Teresa; Gómez, Fernando; Waugh, Enrique; Peralta, O; Cabrera, Elsa; Reyes, José M.; Ampuero, Sandra; González‐Hormazábal, Patricio

doi:10.1016/j.cancergencyto.2007.05.024

Cited by 37 publications

(29 citation statements)

References 25 publications

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“…The gene RAD51 plays a significant role in DNA repair of double-strand breaks via HR (34). Previous studies, although not looking at functional evidence, have shown that the polymorphism RAD51 135G>C is related to breast cancer susceptibility (35). No RAD51 polymorphisms related to cervical cancer have been reported as yet.…”

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confidence: 99%

Single nucleotide polymorphisms in DNA repair genes and risk of cervical cancer: A case-control study

et al. 2011

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Abstract. In this report, we describe a case control study in a Chinese population aimed at identifying possible associations between susceptibility to cervical cancer and single nucleotide polymorphisms in XRCC1 194C>T, XRCC1 280G>A, XRCC1 399G>A, ERCC2 751A>C , ERCC2 156C>A, ERCC1 118C>T, PARP1 762T>C , RAD51 135G>C and HER2 655A>G. The cases comprised 154 patients: 80 cervical squamous cell carcinomas (SCCs), 2 adenocarcinomas and 72 cervical intraepithelial neoplasias (CINs). A total of 177 healthy women were recruited as the controls. A significant association was found between ERCC1 118C>T and SCC in the additive genetic model [odds ratio (OR)=1.711; 95% confidence interval (CI), 1.089-2.880; p=0.021] and the dominant genetic model (OR=1.947; 95% CI, 1.056-3.590; p=0.033). Among women with a smoking family member, ERCC1 118C>T increased SCC risk in the additive model (OR=2.800; 95% CI, 1.314-5.968; p= 0.008). For women who had first intercourse before 22 years of age, XRCC1 280G>A was found to act as a protective factor for SCC under the additive model (OR=0.228; 95% CI, 0.058-0.900; p=0.035), while RAD51 135G>C was a risk factor for CIN (OR=4.246; 95% CI, 1.335-13.502; p=0.014). For women who had first intercourse after 22 years of age, the additive genetic model showed RAD51 135G>C (OR=0.359; 95% CI, 0.138-0.934; p=0.036) and HER2 655A>G (OR=0.309; 95% CI, 0.098-0.972; p=0.045) to be protective factors for SCC. XRCC1 399G>A increased CIN risk among women who first gave birth before the age of 22 in the additive genetic model (OR=4.459; 95% CI, 1.139-17.453; p=0.032). For those who first gave birth after age 22, ERCC1 118C>T was found to be a risk factor for SCC in the additive genetic model (OR=1.884; 95% CI, 1.088-3.264; p=0.024). A significant interaction was observed between RAD51 135G>C and age at first intercourse (p interaction =0.033 for SCC, p interaction =0.021 for CIN), as well with sexual partner number (p interaction =0.001 for SCC). The interaction between HER2 655A>G and age at first intercourse, ERCC2 156C>A and family smoking status and XRCC1 280G>A and alcohol consumption were significant, with p interaction =0.023 for SCC, p interaction =0.021 for CIN and p interaction =0.025 for SCC, respectively.

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confidence: 99%

Single nucleotide polymorphisms in DNA repair genes and risk of cervical cancer: A case-control study

et al. 2011

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“…Double-strand break (DSB) damage is the most injurious lesion observed because it causes cell death or loss of genetic material. Homologous recombination (HR) and non-homologous end joining (NHEJ) are two distinct mechanisms in the repair of double-strand break in mammalian cells (Jara et al, 2007). DNA repair pathways have a critical role for maintaining genomic stability and suppressing mutations (Dixon and Kopras, 2004).…”

Section: Introductionmentioning

confidence: 99%

Role of the RAD51 G172T polymorphism in the clinical outcome of cervical cancer patients under concomitant chemoradiotherapy

Nogueira¹,

Catarino²,

Faustino³

et al. 2012

Gene

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Introduction: Cervical cancer is one of the most common cancers diagnosed in women worldwide. Mammalian cells are constantly exposed to a wide variety of genotoxic agents from both endogenous and exogenous sources. The RAD51 protein is required for meiotic and mitotic recombination and plays a central role in homology-dependent recombinational repair of double-strand breaks (DSBs). Given the functional relevance of the DNA repair system on carcinogenesis, potential associations between genetic polymorphisms of DNA repair genes, cancer risk and response to therapy have been intensively evaluated. This is the first study evaluating the role of the RAD51 G172T genetic variants in cancer prognosis and clinical outcome of cervical cancer patients. Material and methods: We analyzed RAD51 G172T polymorphism genotypes in cervical cancer patients who underwent a platinum-based chemotherapy in combination with radiotherapy. Genotyping was performed by Taqman™ Allelic Discrimination methodology. Results and discussion: Concerning the overall survival rates found using Kaplan-Meier method and Log Rank Test, we observed that the mean survival rates were statistically different according to the patients RAD51 genotypes. The group of patients carrying the T allele present a higher mean survival rate than the other patients (102.3 months vs. 86.4 months, P = 0.020). Using the Cox regression analysis, we found an increased overall survival time for T-carrier patients, when compared with GG genotype, with tumor stage, age and presence of lymph nodes as covariates [hazard ratio (HR), 0.373; 95% CI, 0.181-0.770; P = 0.008]. Among patients (n = 193), RAD51 genotype frequency distributions were not under the influence of clinicopathologic characteristics, namely, treatment response (P = 0.508), recurrence (P = 0.150) and tumor stage (P = 0.250). Conclusions: This is the first study evaluating the role of the RAD51 G172T genetic variants in cancer prognosis and clinical outcome of cervical cancer patients. Our results indicate an influence of the RAD51 genetic variants in overall survival of cervical cancer. Thereby, RAD51 G172T genotypes may provide additional prognostic information in cervical cancer patients who underwent cisplatin-based chemotherapy in combination with radiotherapy.

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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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RAD51 135G>C polymorphism and risk of familial breast cancer in a South American population

Cited by 37 publications

References 25 publications

Single nucleotide polymorphisms in DNA repair genes and risk of cervical cancer: A case-control study

Single nucleotide polymorphisms in DNA repair genes and risk of cervical cancer: A case-control study

Role of the RAD51 G172T polymorphism in the clinical outcome of cervical cancer patients under concomitant chemoradiotherapy

RAD51 gene polymorphisms and sporadic colorectal cancer risk in Poland

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