Single nucleotide polymorphism at codon 133 of the RASSF1 gene is preferentially associated with human lung adenocarcinoma risk

Kanzaki, Hirotaka; Hanafusa, Hiroko; Yamamoto, Hiromasa; Yasuda, Yukiko; Imai, Kazue; Yano, Masaaki; Aoe, Motoi; Shimizu, Nobuyoshi; Nakachi, Kei; Ouchida, Mamoru; Shimizu, Kenji

doi:10.1016/j.canlet.2005.07.006

Cited by 28 publications

(26 citation statements)

References 22 publications

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“…However, mortality is typically caused by metastasis into other substantive organs, rather than as a direct consequence of primary carcinoma (Singh et al, 2012;Stanford et al, 2014). Studies have revealed that the oncogenesis and progression of lacrimal gland carcinoma are regulated by multiple genetic functions, forming complicated mechanisms including activation of oncogenes and inactivation of tumor suppressor genes caused by gene loss, mutation, and replacement (Kanzaki et al, 2006). The tumor suppressor gene RAS association domain family gene 1 (RASSF1) was identified in human chromosome 3p21.3 in 1982 (Whang-peng et al, 1982).…”

Section: Introductionmentioning

confidence: 99%

Expression profile of tumor suppressor gene RASSF1 in lacrimal gland carcinoma

et al. 2015

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ABSTRACT. We examined the expression pattern of the tumor suppressor gene RAS association domain family gene 1 (RASSF1) in lacrimal gland carcinoma and analyzed its relationship with the oncogenesis and progression of tumors. Sixty-two patients (30 males, 32 females, average age = 47 ± 3.5 years) admitted with lacrimal gland carcinoma to the Department of Ophthalmology of our hospital between January 2012 and January 2014 were enrolled in this study. Based on tumor malignancy, patients were classified into a malignant group (N = 25) and benign group (N = 37). Healthy lacrimal gland resections from trauma surgery (N = 35) were recruited as a healthy control group. Expression profiles of RASSF1 in all groups were quantified using reverse transcription-polymerase chain reaction and western blotting. Recurrence of lacrimal gland carcinoma was surveyed through postoperative follow-up. Expression levels of RASSF1 in samples from the malignant and benign groups were significantly lower than those in the healthy group (P < 0.05). Furthermore, the malignant group showed lower RASSF1 expression than the benign group (P < 0.05). Postoperative follow-up identified 22 cases of recurrence in the malignant group, with a recurrence rate of 88%, while 15 cases in the benign group had a C.H. Zeng et al. 6994©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (2): 6993-6998 (2015) recurrence rate of 40.5%. A direct relationship exists between RASSF1 expression levels and the malignancy grade of lacrimal gland carcinoma. Patients with lower RASSF1 expression showed a higher recurrence probability, indicating unfavorable prognosis. Therefore, measuring RASSF1 expression can be used as a diagnostic method for lacrimal gland carcinoma.

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Section: Introductionmentioning

confidence: 99%

Expression profile of tumor suppressor gene RASSF1 in lacrimal gland carcinoma

et al. 2015

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“…Several genetic polymorphisms are considered to be molecular markers that predict the risk, progression and prognosis of various cancers (3)(4)(5)(6)(7). Indeed, single nucleotide polymorphisms (SNPs) in several genes are reported to be associated with the risk of lung cancer (8)(9)(10), for example SNPs in the caspase-3 and vascular endothelial growth factor genes (11,12).…”

Section: Introductionmentioning

confidence: 99%

The allelic distribution of a single nucleotide polymorphism in the PDCD5 gene locus of Japanese non-small cell lung cancer patients

Nanba

Toyooka²,

Soh³

et al. 2008

Mol Med Rep

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Abstract. It has been reported that the rs1862214 single nucleotide polymorphism (SNP) in the programmed cell death 5 gene (PDCD5) is associated with smoking-related lung cancer risk and prognosis in a European population with a history of smoking. The aim of this study was to investigate the status and impact of SNPs in the PDCD5 locus of a Japanese population. We developed an assay based on realtime PCR with melting curve analysis for determining the rs1862214 SNP, and examined this SNP in 165 lung cancer patients and 180 healthy volunteers. Of the 165 lung cancer patients (107 smokers), 25 (17), 72 (47) and 68 (43) had the CC, CG and GG genotypes of rs1862214, respectively. Of the 180 volunteers (117 smokers), 31 (24), 81 (52) and 68 (41) had the CC, CG and GG genotypes of rs1862214, respectively. No significant difference in allelic distribution was found between Japanese patients and healthy controls, even among smokers. Based on the published data, the distribution of this SNP appears to be significantly different in Japanese and European populations. No significant difference in prognosis according to the SNP was observed, either in patients with a history of smoking or in the total number of patients. This too differs from the results from a European population. In conclusion, we developed a convenient real-time PCR-based assay for the genotyping of rs1862214 in the PDCD5 locus. The distribution of the rs1862214 SNP in our Japanese population differs from its distribution in a European population, and is not related to the risk of cancer or to poor prognosis in lung cancer. This suggests the presence of an ethnicity-related difference in the role of PDCD5 in the pathogenesis of lung cancer. IntroductionLung cancer is the leading cause of cancer death in Japan and many other countries worldwide (1,2). Survival among patients with non-small cell lung cancer remains unsatisfactory because many locally advanced or metastatic cases are unresectable. Even patients with the early stages of the disease who undergo complete resections often experience recurrence, resulting in an unfavorable prognosis. In short, until now the effectiveness of therapeutic strategies has been limited.In addition to aiding in the development of therapeutic strategies, the prevention or early detection of cancer improves its rate of mortality. Several genetic polymorphisms are considered to be molecular markers that predict the risk, progression and prognosis of various cancers (3-7). Indeed, single nucleotide polymorphisms (SNPs) in several genes are reported to be associated with the risk of lung cancer (8-10), for example SNPs in the caspase-3 and vascular endothelial growth factor genes (11,12).Recently, Spinola et al reported that the rs1862214 SNP in the programmed cell death 5 gene (PDCD5) locus, which is known to be involved in apoptosis (13,14), was associated with lung cancer risk and prognosis in a European population with a history of smoking (15). They performed a case-control study using German and Italian lung cancer pa...

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“…To date, a few molecular epidemiological studies have investigated the association between the RASSF1A Ala133Ser polymorphism and the cancer risk including breast cancer (Schagdarsurengin et al, 2005;Gao et al, 2008;Bergqvist et al, 2010;Donninger et al, 2011), lung cancer (Kanzaki et al, 2006;Xiao et al 2012), colorectal cancer (Kanzaki et al, 2006), head and neck cancer (Kanzaki et al, 2006), esophageal cancer (Kanzaki et al, 2006;Zhou et al, 2013), renal cell carcinoma (Kawai et al, 2012), hepatocellular carcinoma (Bayram, 2012), gastric cancer (Zhou et al, 2013), prostate cancer (Meyer et al, 2013). However, no consistent conclusion has been drawn.…”

Section: Research Articlementioning

confidence: 99%

“…Each group in these studies was considered separately. Thus, a total of 14 case-control studies including 4572 cases and 4320 controls were analyzed in this meta-analysis (Schagdarsurengin et al, 2005;Kanzaki et al, 2006;Gao et. al, 2008;Xiao et al 2009;Bergqvist et al, 2010;Donninger et al, 2011;Bayram, 2012;Kawai et al 2012;Meyer et al, 2013;Zhou et al, 2013).…”

Section: Characteristics Of Eligible Studiesmentioning

confidence: 99%

“…The sample size in these case-control studies varied considerably (range . All studies were case-control studies, including four breast cancer studies (Schagdarsurengin et al, 2005;Gao et al, 2008;Bergqvist et al, 2010;Donninger et al, 2011), two lung cancer studies (Kanzaki et al, 2006;Xiao et al 2009), two esophageal squamous cell carcinoma (ESCC) studies (Kanzaki et al, 2006;Zhou et al, 2013), and the others including colorectal cancer (Kanzaki et al, 2006), head and neck cancer (Kanzaki et al, 2006), renal cell carcinoma (Kawai et al 2012), hepatocellular carcinoma (Bayram, 2012), gastric cancer (Zhou et al, 2013), prostate cancer (Meyer et al, 2013). 8 studies conducted in the Asian population, 5 in Caucasian population, and 1 in mixed population.…”

Section: Characteristics Of Eligible Studiesmentioning

confidence: 99%

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Association between RASSF1A Ala133Ser Polymorphism and Cancer Susceptibility: A Meta-Analysis Involving 8,892 Subjects

Bayram

2014

Asian Pacific Journal of Cancer Prevention

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Background: Published studies on the association between the Ras Association Domain Family 1 isoform A (RASSF1A) Ala133Ser polymorphism and cancer susceptibility have yielded conflicting results. Thus, a metaanalysis was here performed to assess the possible association. Materials and Methods: All eligible case-control studies published up to November 2013 on the association between RASSF1A Ala133Ser polymorphism and cancer susceptibility were identified by searching PubMed, Web of Science, Science Direct and hand search. Bothfixedeffect and random-effect models were used to calculate pooled odds ratios (ORs) with 95% confidence intervals (CIs) by using the Comprehensive Meta-Analysis software version 2.2. Results: A total of 10 studies including 4,572 cancer cases and 4,320 controls were included in the meta-analysis. Overall, significantly increased cancer risk was associated with the variant Ser133 when all studies were pooled (Ser vs Ala: OR=1.51, 95% CI=1.08-2.12, P heterogeneity ≤0.001; Ser/Ser+Ala/Ser vs Ala/Ala: OR=1.55, 95% CI=1.08-2.22, P heterogeneity ≤0.001). Moreover, in subgroup analyses by cancer types, a significant association between RASSF1A Ala133Ser polymorphism and lung cancer risk was found (Ser vs Ala: OR=2.27, 95% CI=1.29-4.02, Pheterogeneity=0.61; Ser/Ser+Ala/ Ser vs Ala/Ala: OR=2.42, 95% CI=1.33-4.42, P heterogeneity =0.75). In addition, in subgroup analyses by ethnicity, it was found that the RASSF1A Ala133Ser polymorphism was associated with overall cancer risk in Asians (Ser vs Ala: OR=1.37, 95% CI=1.06-1.77, P heterogeneity =0.06) and Caucasians (Ser/Ser+Ala/Ser vs Ala/Ala: OR=2.21, 95% CI=1.01-4.82, P heterogeneity ≤0.001). Conclusions: This meta-analysis suggests, for the first time, that RASSF1A Ala133Ser polymorphism may contribute to cancer susceptibility, especially for lung cancer. Besides, additional well-designed studies with larger sample size focusing on different ethnicities and cancer types are needed to confirm these findings.

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Single nucleotide polymorphism at codon 133 of the RASSF1 gene is preferentially associated with human lung adenocarcinoma risk

Cited by 28 publications

References 22 publications

Expression profile of tumor suppressor gene RASSF1 in lacrimal gland carcinoma

Expression profile of tumor suppressor gene RASSF1 in lacrimal gland carcinoma

The allelic distribution of a single nucleotide polymorphism in the PDCD5 gene locus of Japanese non-small cell lung cancer patients

Association between RASSF1A Ala133Ser Polymorphism and Cancer Susceptibility: A Meta-Analysis Involving 8,892 Subjects

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