• Title/Summary/Keyword: TP53

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

  • Guleria, Kamlesh;Sharma, Sarika;Manjari, Mridu;Uppal, Manjit Singh;Singh, Neeti Rajan;Sambyal, Vasudha
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.7
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    • pp.3305-3311
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    • 2012
  • Background: The present study aimed to find the prognostic implications of two polymorphisms in TP53 (p.R72P, PIN3 Ins16bp) and one in CCR5 ($CCR5{\Delta}32$) in sporadic breast cancer patients. Methods: DNA samples of 80 breast cancer patients and 80 age and gender matched unrelated healthy control individuals from Punjab, North West India were analyzed. Results: For p.R72P, the genotype frequency was 13.8% (RR), 58.8% (RP), 27.5% (PP) in patients and 33.9% (RR), 40.0% (RP), 26.5% (PP) in controls. For PIN3 Ins16bp, the genotype frequencies were 53.75% (A1A1), 37.5% (A1A2), 8.75% (A2A2) in patients and 66.3% (A1A1), 31.3% (A1A2), 2.5% (A2A2) in controls. Only 4 (5%) breast cancer patients were heterozygous for $CCR5{\Delta}32$ deletion. Common RR-A1A1-WT/WT genotype was lower while RP-A1A2-WT/WT genotype was higher in patients as compared to controls. RP-A1A1-WT/WT genotype was significantly higher in patients as compared to control individuals (p = 0.008). Conclusion: Though a clear association of any particular genotype with sporadic breast cancer or stage was not apparent, the results of present study were suggestive that sporadic breast cancer patients with RR-A1A1-WT/WT genotype might have a better response to chemotherapy, thus improving their chances of survival.

Osteosarcoma with Adenocarcinoma of Lung in Li-Fraumeni Syndrome: A Case Report (골육종과 폐선암을 동반한 리-프라우메니 증후군: 증례 보고)

  • Oh, Chang-Seon;Lee, Jin-Ho;Jung, Sung-Taek;Na, Bo-Ram
    • The Journal of the Korean bone and joint tumor society
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    • v.20 no.2
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    • pp.99-103
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    • 2014
  • Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary disorder characterised by a variety of different tumor types in children and young adults. That contains with a germline mutation in the tumor suppressor gene Tumor Protein p53 (TP53). That is extremely rare. Furthermore, this is sometimes overlooked. Here, we report a case of LFS which was confirmed by mutational analysis of the p53 gene. Also, literature review is intended to improve understanding of this disease entity.

Assessment of sediment and total phosphorous loads using SWAT in Oenam watershed, Hwasun, Jeollanam-do (SWAT 모델을 이용한 외남천 유역의 토사 및 총인 유출량 분석)

  • Lee, Taesoo
    • Journal of the Korean association of regional geographers
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    • v.22 no.1
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    • pp.240-250
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    • 2016
  • Monitoring for water quantity and quality was conducted in this study for 2 years (2012~2013) in Oenam Stream which is a tributary of Seomjin River and upstream of Juam Lake. Suspended solid and total phosphorous(TP) were monitored and analyzed, then water quantity and quality as well as their relation with landuses were identified based on the previous study. Flow showed the similar pattern with precipitation but some discrepancies existed due to the distance between weather station(Gwangju) and study area. Watershed was modeled based on observed data using SWAT(Soil and Water Assessment Tool). Model calibration was conducted using data obtained in 2012 and validation was conducted using data in 2013. The coefficient of determination ($R^2$) between observed and modeled showed 0.6644 and 0.5176 for flow and TP, respectively for model calibration period. For validation period, $R^2$ was 0.7529 for flow and 0.7057 for TP, which were higher than calibration period. Hot spots were determined for watershed management by analyzing the amount of sediment and TP outcome from each sub-watershed. TP loading by landuse determined that cropland, of which the area takes only 5% from entire watershed, generated 53.6% of TP and residential and cowshed was responsible for 23.5% of TP loading.

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Phosphorus and Suspended Solid Loading in Lake Yongdam (용담호 소유역별 인 및 부유물질 유입부하량 산정)

  • Kwon, Sang-Yong;Kim, Young-Geel;Yih, Won-Ho;Kim, Bom-Chul;Heo, Woo-Myung
    • Korean Journal of Ecology and Environment
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    • v.38 no.3 s.113
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    • pp.322-333
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    • 2005
  • Total phosphorus (TP) and suspended solids (SS) were measured in the discharge waters from 5 drainage basins of Lake Yongdam, from April, 2002 till March, 2004. The responses of SS and TP to rainfall were analyzed and their loadings into Lake Yongdam were calculated. The inflowing rivers into Lake Yongdam were the Juja River, the Jeongja River, the Jinan River, the Geum River and the Guryang River. Among these rivers Jinan River showed the highest TP that fluctuated very much according to the flow rate. TP and the flow rates (Q) of each river showed positive correlations with empirical relationsip of $TP\;=\;6.32Q^{0.30}$ for the Juia River, $TP\;=\;8.58Q^{0.49}$ for the Jeongia River, $TP\;=\;307.92Q^{0.10}$, for the Jinan River, $TP\;=\;17.91Q^{0.47}$, for the Geum River, $TP\;=\;20.11Q^{0.53}$ for Guryang River. In April 2002 ${\sim}$ March 2003, phosphorus loadings from the Juja River, the Jeongja River, the Jinan River, the Geum River and the Guryang River were calculated to be 3,677, 11,430, 36,412, 89,651, and 42,226 kgP ${\cdot}$ $yr^{-1}$ respectively. And the specific loadings from the Juja River, the Jeongia River, the Jinan River, the Geum River and the Guryang River were calculated to be 0.3, 2.9, 13.6, 9.3, and 13.0 kgP ${\cdot}$ $km^{-2}$ ${\cdot}$ $yr^{-1}$ respectively. In April 2002 ${\sim}$ March 2004, the suspended particles loading from the Juja River, the Jeongia River, the Jinan River, the Geum River and the Guryang River were 673, 1,232, 4,232, 30,902, 80,202 ton ${\cdot}$ $yr^{-1}$ respectively. The Guryang River showed the largest contribution of SS loading.

The Concentrations and Loads of Pollutant in Wet Deposition in Cheongju (습성강하물 중의 오염물질의 농도와 부하 - 충북 청주시를 중심으로-)

  • Kim, Jin-Soo;Oh, Seung-Young;Oh, Kwang-Young;Lee, Jong-Jin;Kim, Sun-Jong;Cho, Jae-Won;Khan, Jong-Bum;Jeong, Gu-Young
    • Journal of Korea Water Resources Association
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    • v.37 no.11
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    • pp.959-967
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    • 2004
  • The concentrations and loads of total nitrogen (TN), total phosphorus (TP), and chemical oxygen demand (COD) in wet deposition were investigated at Chungbuk National University in Cheongju, Chungbuk. Event based precipitation samples were collected during 1998 to 2003. The precipitation-weighted mean concentrations of pollutants were 0.60 mg/L for TN, 0.014 mg/L for TP, and 4.8 mg/L for COD, which were smaller than its arithmetic mean concentrations by 26% for TN, 18% for TP, and 14% for COD. The concentrations of TN, TP, and COD significantly decreased with precipitation. Mean concentrations of pollutants in spring (March-May) were higher than in other seasons likely due to dust caused by wind erosion and sand-dust storms, pollen etc. Significant relationships were determined between TN and TP, and TN and COD. Annual loads of wet deposition averaged 7.9 kg/ha$\cdot$yr for TN, 0.19 kg/ha$\cdot$yr for TP, and 63.9 kg/ha$\cdot$yr for COD, which are almost identical to the values of TN and TP but slightly higher than COD value reported in Japan.

Impact of AhR, CYP1A1 and GSTM1 Genetic Polymorphisms on TP53 R273G Mutations in Individuals Exposed to Polycyclic Aromatic Hydrocarbons

  • Gao, Meili;Li, Yongfei;Xue, Xiaochang;Long, Jiangang;Chen, Lan;Shah, Walayat;Kong, Yu
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.6
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    • pp.2699-2705
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    • 2014
  • This study was to undertaken to investigate the impacts of AhR, CYP1A1, GSTM1 genetic polymorphisms on the R273G mutation in exon 8 of the tumor suppressor p53 gene (TP53) among polycyclic aromatic hydrocarbons (PAHs) exposed to coke-oven workers. One hundred thirteen workers exposed to PAH and 82 control workers were recruited. We genotyped for polymorphisms in the AhR, CYP1A1, GSTM1, and TP53 R273G mutation in blood by PCR methods, and determined the levels of 1-hydroxypyrene as PAH exposure marker in urine using the high pressure liquid chromatography assay. We found that the distribution of alcohol users and the urinary excretion of 1-OHP in the exposed workers were significantly higher than that of the control workers (p=0.004, p<0.001, respectively). Significant differences were observed in the p53 genotype distributions of smoking subjects (p=0.01, 95%CI: 1.23-6.01) and PAH exposure (p=0.008, 95%CI: 1.24-4.48), respectively. Further, significant differences were observed in the p53 exon 8 mutations for the genetic polymorphisms of Lys/Arg for AhR (p=0.02, 95%CI: 0.70-15.86), Val/Val for CYP1A1 (p=0.04, 95%CI: 0.98-19.09) and null for GSTM1 (p=0.02, 95%CI: 1.19-6.26), respectively. Our findings indicated that polymorphisms of PAH metabolic genes, such as AhR, CYP1A1, GSTM1 polymorphisms may interact with p53 genetic variants and may contribute to PAH related cancers.

Deposition condition of NiO deposited on biaxially textured Ni by a MOCVD process (2축 정렬된 Ni 위에 MOCVD법에 의한 NiO의 증착조건)

  • 선종원;김형섭;지봉기;박해웅;홍계원;박순동;정충환;전병혁;김찬중
    • Progress in Superconductivity and Cryogenics
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    • v.4 no.2
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    • pp.5-10
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    • 2002
  • Deposition condition of NiO that is one of Possible buffer layers for YBCO coated conductors was studied. NiO was deposited on textured Ni substrates by a MOCVD (metal-organic chemical vapor deposition) method. The degree of texture, and the surface roughness were analyzed by X-ray Pole figure, atomic force microscope and scanning electron microscope. The (111) and (200) textures were competitively developed , depending on an oxygen partial Pressure(PO2) and deposition temperature (Tp). The (200) textured NiO layer was deposited at Tp=450~47$0^{\circ}C$ and PO2= 1.67 Torr Out-of-Plane ($\omega$-scan) and in-plane ($\Phi$-scan) textures of the (200) NiO films were as good as 10.34$^{\circ}$ and 10.00$^{\circ}$ respectively The AFM surface roughness of NiO was in the range of 3~4.5 nm at PO2=0.91~3.34 Torr and at Tp=47$0^{\circ}C$ , and in the range of 3~13 nm at TP=450~53$0^{\circ}C$ and at PO2=1.67 Torr.

Genetic Alteration of Tumor Suppressor Gene and Microsatellite in Nonsmall Cell Lung Cancer (비소세포폐암에서 종양억제유전자와 극소위성 변이에 관한 연구)

  • Shin, Tae-Rim;Hong, Young-Sook;Kim, Jhin-Gook;Chang, Jung-Hyun
    • Tuberculosis and Respiratory Diseases
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    • v.49 no.4
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    • pp.453-465
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    • 2000
  • Background : Lung carcinogenesis is a multistage process involving alterations in multiple genes and diverse pathway. Mutational activation of oncogenes and inactivation of tumor suppressor genes, and subsequent increased genetic instability are the major genetic events. The p53 gene and FHIT gene as tumor suppressor genes contribute to the pathogenesis of lung cancer, evidenced by mutation, microsatellite instability(MI) and loss of heterozygosity(LOH). Methods : We analysed genetic mutations of p53 and FHIT gene in 29 surgical specimens of nonsmall cell lung cancer using PCR-single strand conformation polymorphism, DNA sequencing and RT-PCR. MI and LOH were analyzed in loci of D3S1285, D9S171, and TP53. Results : In 2 cases, point mutation of p53 gene was observed on exon 5. MI of 3 times and LOH of 14 times were observed in at least one locus. In terms of the location of microsatellite, D3S1285 as a marker of FH1T was observed in 5 cases out of 26 specimens; D9S171 as a marker of p16 in 5 out of 17; and TP53 as a marker of p53 in 7 out of 27. In view of histologic type, squamous cell carcinoma presented higher frequency of microsatellite alteration, compared to others. Mutation of FHIT gene was observed in 11 cases and 6 cases of those were point mutation as a silent substitution on exon 8. FHIT mRNA expression exhibited deletion on exon 6 to 9 in 4 cases among 15 specimens, presenting beta-actin normally. Conclusion : Our results show comparable frequency of genetic alteration in nonsmall cell lung cancer to previous studies of Western countries. Microsatellite analysis might have a role as a tumor marker especially in squamous cell carcinoma. Understanding molecular abnormalities involved in the pathogenesis could potentially lead to prevention, earlier diagnosis and the development of novel investigational approaches to the treatment of lung cancer.

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Overlapping Region of p53/Wrap53 Transcripts: Mutational Analysis and Sequence Similarity with microRNA-4732-5p

  • Pouladi, Nasser;Kouhsari, Shideh Montasser;Feizi, Mohammadali Hosseinpour;Gavgani, Reyhaneh Ravanbakhsh;Azarfam, Parvin
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.6
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    • pp.3503-3507
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    • 2013
  • Background: Although the majority of investigations concerned with TP53 and its protein have focused on coding regions, recently a set of studies highlighted significant roles of regulatory elements located in p53 mRNA, especially 5'UTR. The wrap53${\alpha}$ transcript is one of those that acts as a natural antisense agent, forming RNA-RNA hybrids with p53 mRNA and protecting it from degradation. Materials and Methods: In this study, we focused on the mutation status of exon $1{\alpha}$ of the WRAP53 gene (according to exon 1 of p53) in 160 breast tumor tissue samples and conducted a bioinformatics search for probable miRNA binding site in the p53/wrap53 overlapping region. Mutations were detected, using single stranded conformation polymorphism (SSCP) and sequencing. We applied the miRBase database for prediction of miRNAs which target overlapping region of p53/wrap53 transcripts. Results: Our results showed all samples to have wild type alleles in exon 1 of TP53 gene. We could detect a novel and unreported intronic mutation (IVS1+56, G>C) outside overlapping regions of p53/wrap53 genes in breast cancer tissues and also predict the presence of a binding site for miR-4732-5p in the 5'UTR of Wrap53 mRNA. Conclusions: From our findings we propose designing further studies focused on overexpression of miRNA-4732-5p and introducing different mutations in the overlapping region of wrap53 and p53 genes in order to study their effects on p53 and its ${\Delta}N$ isoform (${\Delta}$40p53) expression. The results may provide new pieces in the p53 targeting puzzle for cancer therapy.