Importance of TP53 codon 72 and intron 3 duplication 16bppolymorphisms in prediction of susceptibility on breast cancer

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

doi:10.1186/1471-2407-8-32

Cited by 109 publications

(106 citation statements)

References 44 publications

(52 reference statements)

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“…Several studies have correlated the intron 3 duplication with an increased risk of various cancers, including the ovary (Runnebaum et al, 1995), lung (Wu et al, 2002), colon (Gemignani et al, 2004), breast (Costa et al, 2008), esophageal cancer and gastric cancer (Malik et al, 2011). In the present study, higher frequency of PIN3 Ins16bp A2A2 genotypes has been observed in breast cancer patients (8.75%) as compared to control individuals (2.5%).…”

Section: Discussionsupporting

confidence: 59%

“…In the present study, higher frequency of PIN3 Ins16bp A2A2 genotypes has been observed in breast cancer patients (8.75%) as compared to control individuals (2.5%). While A2A2 genotype of PIN3 polymorphism has been associated with increased risk for breast cancer (Weston et al, 1997;Wang-Gohrke et al, 2002;Costa et al, 2008), on the other hand, six fold higher risk for breast cancer has been reported in Slovak population who had wild-type intron 3 (A1A1) genotype as compared to A2A2 genotype (Franekova et al, 2007). Association of PIN3 Ins16bp polymorphism with higher incidence of lymph node metastases has also been reported (Costa et al, 2008;Hrstka et al, 2009).…”

Section: Discussionmentioning

confidence: 99%

“…It is therefore implicated in regulation of gene expression and DNA protein interactions, resulting in a defective protein (Mattick, 1994(Mattick, , 2004. The intron 3 duplication have been correlated with an increased risk of various cancers, including the ovary (Runnebaum et al, 1995), lung (Wu et al, 2002), colon (Gemignani et al, 2004) and breast (Costa et al, 2008). Association of PIN3 Ins16bp polymorphism with higher incidence of lymph node metastases has also been reported (Costa et al, 2008;Hrstka et al, 2009).…”

Section: Introductionmentioning

confidence: 94%

“…The intron 3 duplication have been correlated with an increased risk of various cancers, including the ovary (Runnebaum et al, 1995), lung (Wu et al, 2002), colon (Gemignani et al, 2004) and breast (Costa et al, 2008). Association of PIN3 Ins16bp polymorphism with higher incidence of lymph node metastases has also been reported (Costa et al, 2008;Hrstka et al, 2009). However, in breast cancer other groups have failed to confirm these results (Khaliq et al, 2000;Osorio et al, 2008).…”

Section: Introductionmentioning

confidence: 94%

“…Polymorphism TP53 PIN3 Ins16bp polymorphism was detected by amplifying genomic DNA using published primer sequences (Costa et al, 2008). The PCR conditions were denaturation at 95 ˚C for 5 min, 35 cycles of 45 sec at 95 ˚C, 30 sec at 55 ˚C and 45 sec at 72 ˚C, and 10 min extension at 72 ˚C in a Mastercycler gradient (Eppendorf, Germany).…”

Section: Analysis Of Tp53 Pin3 Ins16bpmentioning

confidence: 99%

See 4 more Smart Citations

p.R72P, PIN3 Ins16bp Polymorphisms of TP53 and CCR5Δ32 in North Indian Breast Cancer Patients

Guleria¹,

Sharma²,

Manjari³

et al. 2012

Asian Pacific Journal of Cancer Prevention

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Section: Discussionsupporting

confidence: 59%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 94%

Section: Introductionmentioning

confidence: 94%

Section: Analysis Of Tp53 Pin3 Ins16bpmentioning

confidence: 99%

See 3 more Smart Citations

p.R72P, PIN3 Ins16bp Polymorphisms of TP53 and CCR5Δ32 in North Indian Breast Cancer Patients

Guleria¹,

Sharma²,

Manjari³

et al. 2012

Asian Pacific Journal of Cancer Prevention

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Role of altholactone in inducing type II apoptosis signalling pathway and expression of cancer‐related genes in cervical carcinoma HeLa cell line

Uthaisang-Tanechpongtamb

Sriyabhaya

Wilairat

2013

Cell Biology International

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Goniothalamus species (Annonaceae) is a shrub that grows in the rainforest of tropical Asia. Several compounds have been isolated and exhibit the potential use for cancer treatment. In this work, altholactone isolated from Goniothalamus macrophyllus was investigated for its cytotoxicity, apoptosis signalling and the expression of cancer‐related genes in the cervical carcinoma HeLa cells. Cytotoxicity was evaluated by MTT assay. Apoptotic characteristics were evaluated by morphological studies. Caspase‐3 activity was detected using a fluorogenic substrate. Cytochrome c release from mitochondria and protein Bid were determined by Western blotting and cancer‐related genes expression by RT‐PCR. The results demonstrated that altholactone was cytotoxic to HeLa (IC50 = 9.6 μg/mL), and apoptotic cell death was manifested by appearance of chromatin condensation and caspase‐3 activation, which was inhibited by specific inhibitors of both caspase‐8 and ‐9. Release into the cytosol of cytochrome and cleavage of Bid occurred. Altholactone also caused a decrease in bcl‐2 and an increase in p53 expression. These unique properties of altholactone suggest a potential for cancer chemotherapy.

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ΔN133p53 expression levels in relation to haplotypes of the TP53 internal promoter region

Bellini¹,

Pitto²,

Marini³

et al. 2010

Hum. Mutat.

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The transcription of the DeltaN133p53 isoform of the TP53 gene is controlled by an internal promoter region (IPR) containing eight polymorphisms in 11 common haplotypes, following a resequencing of 47 Caucasians. We assayed the functional effects of the commonest six haplotypes on the promoter activity with a luciferase reporter system, in HeLa and 293T cells. These studies showed that different IPR haplotypes are associated with differences in the promoter activity resulting in marked variation in the baseline expression of DeltaN133p53. In vivo quantitative-polymerase chain reaction (PCR) on human tissues confirmed that the baseline levels of DeltaN133p53 showed haplotype specific differences that paralleled those seen in vitro. When cell lines were treated with camptothecin, the fold-increase in DeltaN133p53 levels was dose-dependent but haplotype-independent (i.e., similar for all the haplotypes). Finally, we used an electrophoretic mobility shift assay to analyze the rs1794287 polymorphism and found changes in the pattern of protein binding. This partially confirmed our in silico analysis showing that the polymorphism rs1794287 can affect the function of the internal promoter by changing its affinity for several transcription factors. Thus, we showed that the expression of DeltaN133p53 is under genetic control, and suggested the presence of interindividual differences underlying this mechanism.

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Importance of TP53 codon 72 and intron 3 duplication 16bppolymorphisms in prediction of susceptibility on breast cancer

Cited by 109 publications

References 44 publications

p.R72P, PIN3 Ins16bp Polymorphisms of TP53 and CCR5Δ32 in North Indian Breast Cancer Patients

p.R72P, PIN3 Ins16bp Polymorphisms of TP53 and CCR5Δ32 in North Indian Breast Cancer Patients

Role of altholactone in inducing type II apoptosis signalling pathway and expression of cancer‐related genes in cervical carcinoma HeLa cell line

ΔN133p53 expression levels in relation to haplotypes of the TP53 internal promoter region

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