Analysis of CDKN1A polymorphisms

Rodrigues, Flávia Cristina Carvalho; Kawasaki-Oyama, Rosa Sayoko; Fo, José F.Gois; Ukuyama, Érica E; Antônio, Joäo Roberto; Bozola, Antônio Roberto; Romeiro, Janaina G; Rahal, Paula; Tajara, Eloíza H.

doi:10.1016/s0165-4608(02)00839-7

Cited by 15 publications

(2 citation statements)

References 24 publications

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“…Another two were also excluded because they did not present detailed genotyping information[69] or had cancer-prone predisposition[70]. The studies investigating different cancers[38], multiple ethnicity[26], or multi-center collaboration[30] were separated into multiple studies in subgroup analysis. In addition, three studies [48],[61],[68] that only provided the total number of variant genotypes (Arg/Ser and Arg/Arg) were included in the analysis for the dominant model but not for other genetic models.…”

Section: Resultsmentioning

confidence: 99%

Association between p21 Ser31Arg polymorphism and cancer risk: a meta-analysis

Ma¹,

Zhou²,

Wei³

et al. 2011

Chin J Cancer

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P21 (CDKN1A), a key cell cycle regulatory protein that governs cell cycle progression from G1 to S phase, can regulate cell proliferation, growth arrest, and apoptosis. The Ser31Arg polymorphism is located in the highly conserved region of p21 and may encode functionally distinct proteins. Although many epidemiological studies have been conducted to evaluate the association between the p21 Ser31Arg polymorphism and cancer risk, the findings remain conflicting. This meta-analysis with 33 077 cases and 45 013 controls from 44 published case-control studies showed that the variant homozygous 31Arg/Arg genotype was associated with an increased risk of numerous types of cancers in a random-effect model (homozygote comparison: OR = 1.17, 95% CI = 0.99 to 1.37, P = 0.0002 for the heterogeneity test; recessive model comparison: OR = 1.16, 95% CI = 1.01 to 1.33, P = 0.0001 for the heterogeneity test). Stratified analysis revealed that increased cancer risk associated with the 31Arg/Arg genotype remained significant in subgroups of colorectal cancer, estrogen-related cancer, Caucasians, population-based studies, studies with matching information or a larger sample size. Heterogeneity analysis showed that tumor type contributed to substantial between-study heterogeneity (recessive model comparison: χ2 = 21.83, df = 7, P = 0.003). The results from this large-sample sized meta-analysis suggest that the p21 31Arg/Arg genotype may serve as a potential marker for increased cancer risk.

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Section: Resultsmentioning

confidence: 99%

Association between p21 Ser31Arg polymorphism and cancer risk: a meta-analysis

Ma¹,

Zhou²,

Wei³

et al. 2011

Chin J Cancer

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“…Socs2 [ 23 ], cdkn1a [ 32 ], rgs3 [ 22 ], cish , spink3 , cyp17a1 , and nfe2 [ 33 ] were involved in negative control. Cancer-like early individual development, but no cancer, is maybe due to counteracting effects of negative control and cooperation of the two sides.…”

Section: Discussionmentioning

confidence: 99%

ECR-MAPK Regulation in Liver Early Development

Zhao

Zhuo

2014

BioMed Research International

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Early growth is connected to a key link between embryonic development and aging. In this paper, liver gene expression profiles were assayed at postnatal day 22 and week 16 of age. Meanwhile another independent animal experiment and cell culture were carried out for validation. Significance analysis of microarrays, qPCR verification, drug induction/inhibition assays, and metabonomics indicated that alpha-2u globulin (extracellular region)-socs2 (-SH2-containing signals/receptor tyrosine kinases)-ppp2r2a/pik3c3 (MAPK signaling)-hsd3b5/cav2 (metabolism/organization) plays a vital role in early development. Taken together, early development of male rats is ECR and MAPK-mediated coordination of cancer-like growth and negative regulations. Our data represent the first comprehensive description of early individual development, which could be a valuable basis for understanding the functioning of the gene interaction network of infant development.

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Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals

et al. 2011

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Lynch syndrome (LS) is an autosomal dominant syndrome that predisposes individuals to development of cancers early in life. These cancers are mainly the following: colorectal, endometrial, ovarian, small intestine, stomach and urinary tract cancers. LS is caused by germline mutations in DNA mismatch repair genes (MMR), mostly MLH1 and MSH2, which are responsible for more than 85% of known germline mutations. To search for germline mutations in MLH1 and MSH2 genes in 123 unrelated South American suspected LS patients (Bethesda or Amsterdam Criteria) DNA was obtained from peripheral blood, and PCR was performed followed by direct sequencing in both directions of all exons and intron-exon junctions regions of the MLH1 and MSH2 genes. MLH1 or MSH2 pathogenic mutations were found in 28.45% (34/123) of the individuals, where 25/57 (43.85%) fulfilled Amsterdam I, II and 9/66 (13.63%) the Bethesda criteria. The mutations found in both genes were as follows: nonsense (35.3%), frameshift (26.47%), splicing (23.52%), and missense (9%). Thirteen alterations (35.14%) were described for the first time. The data reported in this study add new information about MLH1 and MSH2 gene mutations and contribute to better characterize LS in Brazil, Uruguay and Argentina. The high rate of novel mutations demonstrates the importance of defining MLH1 and MSH2 mutations in distinct LS populations.

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Analysis of CDKN1A polymorphisms

Cited by 15 publications

References 24 publications

Association between p21 Ser31Arg polymorphism and cancer risk: a meta-analysis

Association between p21 Ser31Arg polymorphism and cancer risk: a meta-analysis

ECR-MAPK Regulation in Liver Early Development

Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals

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