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P53 R72P

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https://www.readbyqxmd.com/read/27683180/somatic-and-germline-tp53-alterations-in-second-malignant-neoplasms-from-pediatric-cancer-survivors
#1
Amy Sherborne, Vincent Lavergne, Katharine Yu, Leah Lee, Philip Davidson, Tali Mazor, Ivan V Smirnov, Andrew E Horvai, Mignon Loh, Steven G Dubois, Robert Goldsby, Joseph P Neglia, Sue Hammond, Leslie L Robison, Rosanna Wustrack, Joseph F Costello, Alice Nakamura, Kevin M Shannon, Smita Bhatia, Jean L Nakamura
PURPOSE: Second malignant neoplasms (SMNs) are severe late complications that occur in pediatric cancer survivors exposed to radiotherapy and other genotoxic treatments. To characterize the mutational landscape of treatment-induced sarcomas and to identify candidate SMN-predisposing variants we analyzed germline and SMN tumor samples from pediatric cancer survivors. EXPERIMENTAL DESIGN: We performed whole exome sequencing (WES) and RNA sequencing on radiation-induced sarcomas arising from two pediatric cancer survivors...
September 28, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/26416416/tp53-and-mdm2-single-nucleotide-polymorphisms-influence-survival-in-non-del-5q-myelodysplastic-syndromes
#2
Kathy L McGraw, Thomas Cluzeau, David A Sallman, Ashley A Basiorka, Brittany A Irvine, Ling Zhang, P K Epling-Burnette, Dana E Rollison, Mar Mallo, Lubomir Sokol, Francesc Solé, Jaroslaw Maciejewski, Alan F List
P53 is a key regulator of many cellular processes and is negatively regulated by the human homolog of murine double minute-2 (MDM2) E3 ubiquitin ligase. Single nucleotide polymorphisms (SNPs) of either gene alone, and in combination, are linked to cancer susceptibility, disease progression, and therapy response. We analyzed the interaction of TP53 R72P and MDM2 SNP309 SNPs in relationship to outcome in patients with myelodysplastic syndromes (MDS). Sanger sequencing was performed on DNA isolated from 208 MDS cases...
October 27, 2015: Oncotarget
https://www.readbyqxmd.com/read/26341700/evaluation-of-ctnnb1-and-tp53-variability-in-patients-with-hepatocellular-carcinoma-and-occult-hepatitis-b-virus-infection
#3
Carlo Saitta, Marika Lanza, Antonio Bertuccio, Salvatore Lazzara, Giuseppe Navarra, Giovanni Raimondo, Teresa Pollicino
Hepatitis B virus (HBV) infection plays a major role in hepatocellular carcinoma (HCC) development. Much evidence suggests that HBV also maintains its pro-oncogenic properties in cases of occult HBV infection (OBI). Mutations of the beta-catenin and p53 genes (CTNNB1 and TP53, respectively) may be associated with HCC occurrence in patients with overt HBV infection, whereas such genetic mutations have not been investigated in HCC patients with OBI thus far. We investigated the genetic heterogeneity of CTNNB1 exon 3 and all of the TP53 exons in tumor DNA extracts from a unique cohort of 61 HCC patients (all previously tested for HBV DNA and for its integration into the host's genome), including 34 OBI-positive, 20 HBV surface antigen (HBsAg)/OBI-negative, and 7 HBsAg-positive cases...
October 2015: Cancer Genetics
https://www.readbyqxmd.com/read/25889455/tp53-r72p-polymorphism-modulates-dna-methylation-in-hepatocellular-carcinoma
#4
Khadija Rebbani, Agnès Marchio, Sayeh Ezzikouri, Rajaa Afifi, Mostafa Kandil, Olfa Bahri, Henda Triki, Abdellah Essaid El Feydi, Anne Dejean, Soumaya Benjelloun, Pascal Pineau
BACKGROUND: Hepatocellular carcinoma (HCC) is characterized by widespread epidemiological and molecular heterogeneity. Previous work showed that in the western part of North Africa, a region of low incidence of HCC, mutations are scarce for this tumor type. As epigenetic changes are considered possible surrogates to mutations in human cancers, we decided, thus, to characterize DNA methylation in HCC from North-African patients. METHODS: A set of 11 loci was investigated in a series of 45 tumor specimens using methylation-specific and combined-bisulfite restriction assay PCR...
2015: Molecular Cancer
https://www.readbyqxmd.com/read/25768405/the-relationship-of-tp53-r72p-polymorphism-to-disease-outcome-and-tp53-mutation-in-myelodysplastic-syndromes
#5
K L McGraw, L M Zhang, D E Rollison, A A Basiorka, W Fulp, B Rawal, A Jerez, D L Billingsley, H-Y Lin, S E Kurtin, S Yoder, Y Zhang, K Guinta, M Mallo, F Solé, M J Calasanz, J Cervera, E Such, T González, T J Nevill, T Haferlach, A E Smith, A Kulasekararaj, G Mufti, A Karsan, J P Maciejewski, L Sokol, P K Epling-Burnette, S Wei, A F List
Nonsynonymous TP53 exon 4 single-nucleotide polymorphism (SNP), R72P, is linked to cancer and mutagen susceptibility. R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting. Myelodysplastic syndrome (MDS) with chromosome 5q deletion is characterized by erythroid hypoplasia arising from lineage-specific p53 accumulation resulting from ribosomal insufficiency. We hypothesized that apoptotically diminished R72P C-allele may influence predisposition to del(5q) MDS...
2015: Blood Cancer Journal
https://www.readbyqxmd.com/read/25227851/effects-of-p53-codon-72-and-mdm2-snp309-polymorphisms-on-gastric-cancer-risk-among-the-iranian-population
#6
Mohammad-Taher Moradi, Zivar Salehi, Keyvan Aminian, Abbas Yazdanbod
BACKGROUND: Development of gastric cancer (GC) is a multistep process that requires alterations in the expression of oncogenes and tumor suppressor genes, occurring over several decades. The p53 tumor suppressor protein is involved in cell-cycle control, apoptosis and DNA repair. One of the most important regulators of p53 is MDM2, which acts as a negative regulator in the p53 pathway. Based on the key role of p53 and MDM2 in tumor suppression, polymorphisms that cause change in their function might affect cancer risk...
2014: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/24327010/negative-effect-of-p72-polymorphism-on-p53-gene-in-ivf-outcome-in-patients-with-repeated-implantation-failure-and-pregnancy-loss
#7
Belén Lledo, Azahara Turienzo, Jose A Ortiz, Ruth Morales, Jorge Ten, Joaquin Llácer, Rafael Bernabeu
PURPOSE: Investigate whether R72P on p53 gene polymorphism has a higher prevalence among women with a history of recurrent implantation failure (RIF) and pregnancy loss (RPL) and its influence in their IVF cycle outcome. MATERIAL AND METHODS: p53 polymorphism R72P has been studied in 181 women. The control group included 83 oocyte donors. In the study group 98 women were included: 44 with RIF and 54 with RPL. From the study group, 76 patients underwent IVF-cycles (55 RPL and 21 RIF)...
February 2014: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/23818300/mdm2-promoter-polymorphism-and-p53-codon-72-polymorphism-in-chronic-myeloid-leukemia-the-association-between-mdm2-promoter-genotype-and-disease-susceptibility-age-of-onset-and-blast-free-survival-in-chronic-phase-patients-receiving-imatinib
#8
Yi-Chang Liu, Hui-Hua Hsiao, Wen-Chi Yang, Ta-Chih Liu, Chao-Sung Chang, Ming-Yu Yang, Pai-Mei Lin, Jui-Feng Hsu, Ching-Ping Lee, Sheng-Fung Lin
The genetic or functional inactivation of the p53 pathway plays an important role with regards to disease progression from the chronic phase (CP) to blast phase (BP) and imatinib treatment response in chronic myeloid leukemia (CML). Two functional single nucleotide polymorphisms (SNPs), p53 R72P and MDM2 SNP309, are associated with alternation of p53 activity, however the association regarding CML susceptibility and BP transformation under imatinib treatment is unclear. The MDM2 SNP309 genotype was determined by polymerase chain reaction-restriction fragment length polymorphism and confirmed by direct sequencing from 116 CML patients, including 104 in the CP at diagnosis, and 162 healthy Taiwanese controls...
December 2014: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/23475592/modeling-gene-environment-interactions-in-oral-cavity-and-esophageal-cancers-demonstrates-a-role-for-the-p53-r72p-polymorphism-in-modulating-susceptibility
#9
Jayanta Sarkar, Emily Dominguez, Guojun Li, Donna F Kusewitt, David G Johnson
A large number of epidemiological studies have linked a common single-nucleotide polymorphism (SNP) in the human p53 gene to risk for developing a variety of cancers. This SNP encodes either an arginine or proline at position 72 (R72P) of the p53 protein, which can alter the apoptotic activity of p53 via transcriptional and non-transcriptional mechanisms. This SNP has also been reported to modulate the development of human papilloma virus (HPV)-driven cancers through differential targeting of the p53 variant proteins by the E6 viral oncoprotein...
August 2014: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/23289212/-ccr5-ccr2-apoe-p53-itgb3-and-hfe-gene-polymorphism-in-western-siberia-long-livers
#10
COMPARATIVE STUDY
D E Ivanoshchuk, S V Mikhaĭlova, I V Kulikov, V N Maksimov, M I Voevoda, A G Romashchenko
In order to estimate the distribution of some polymorphisms for the CCR5, CCR2, apoE, p53, ITGB3, and HFE genes in Russian long-livers from Western Siberia, a sample of 271 individuals (range 90-105 years) was examined. It was demonstrated that carriage of the delta32 polymorphism for the CCR5 gene, V64/polymorphism for the CCR2 gene, e2/e3/e4 for the apoE gene, L33P for the ITGB3 gene, as well as H63D and S65C polymorphisms for the HFE gene does not influence on predisposition to the longevity; carriage of the 282 Y allele for the HFE gene negatively influences on the longevity; carriage of the heterozygous genotype for the R72P polymorphism for the p53 gene correlates with the longevity of elderly people...
2012: Advances in Gerontology, Uspekhi Gerontologii
https://www.readbyqxmd.com/read/23165797/correlation-of-tp53-and-mdm2-genotypes-with-response-to-therapy-in-sarcoma
#11
Hege O Ohnstad, Russell Castro, Jinchang Sun, Karen-Marie Heintz, Lyubomir T Vassilev, Bodil Bjerkehagen, Stine H Kresse, Leonardo A Meza-Zepeda, Ola Myklebost
BACKGROUND: Relatively few sarcomas harbor TP53 (tumor protein p53) mutations, but in many cases, amplification of MDM2 (murine double minute 2) effectively inactivate p53. The p53 pathway activity can also be affected by normal genetic variation. METHODS: The mutation status of TP53 and expression of MDM2, TP53, and their genetic variants SNP309 and R72P (Arg72Pro) were investigated in 125 sarcoma patient samples and 18 sarcoma cell lines. Association of the different genotypes and gene aberrations with chemotherapy response and survival, as well as response to MDM2 antagonists in vitro was evaluated...
March 1, 2013: Cancer
https://www.readbyqxmd.com/read/23034890/germline-variation-in-tp53-regulatory-network-genes-associates-with-breast-cancer-survival-and-treatment-outcome
#12
Maral Jamshidi, Marjanka K Schmidt, Thilo Dörk, Montserrat Garcia-Closas, Tuomas Heikkinen, Sten Cornelissen, Alexandra J van den Broek, Peter Schürmann, Andreas Meyer, Tjoung-Won Park-Simon, Jonine Figueroa, Mark Sherman, Jolanta Lissowska, Garrett Teoh Hor Keong, Astrid Irwanto, Marko Laakso, Sampsa Hautaniemi, Kristiina Aittomäki, Carl Blomqvist, Jianjun Liu, Heli Nevanlinna
Germline variation in the TP53 network genes PRKAG2, PPP2R2B, CCNG1, PIAS1 and YWHAQ was previously suggested to have an impact on drug response in vitro. Here, we investigated the effect on breast cancer survival of germline variation in these genes in 925 Finnish breast cancer patients and further analyzed five single nucleotide polymorphisms (SNPs) in PRKAG2 (rs1029946, rs4726050, rs6464153, rs7789699) and PPP2R2B (rs10477313) for 10-year survival in breast cancer patients, interaction with TP53 R72P and MDM2-SNP309, outcome after specific adjuvant therapy and correlation to tumor characteristics in 4,701 invasive cases from four data sets...
May 1, 2013: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/22994752/p-r72p-pin3-ins16bp-polymorphisms-of-tp53-and-ccr5-32-in-north-indian-breast-cancer-patients
#13
Kamlesh Guleria, Sarika Sharma, Mridu Manjari, Manjit Singh Uppal, Neeti Rajan Singh, Vasudha Sambyal
BACKGROUND: The present study aimed to find the prognostic implications of two polymorphisms in TP53 (p.R72P, PIN3 Ins16bp) and one in CCR5 (CCR5/32) 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...
2012: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/22741010/the-p53-codon-72-polymorphism-is-associated-with-risk-and-early-onset-of-breast-cancer-among-saudi-women
#14
Abeer Al-Qasem, Mohamed Toulimat, Asma Tulbah, Naser Elkum, Taher Al-Tweigeri, Abdelilah Aboussekhra
Breast cancer has a major impact on the health of women worldwide. In the Kingdom of Saudi Arabia (KSA), breast cancer incidence is on the increase and is characterized by early onset and aggressiveness. Owing to the importance of the TP53 gene in breast carcinogenesis, we analyzed the possible link between TP53 single nucleotide polymorphisms (SNPs) and the risk of breast cancer in Saudi women by direct sequencing of the TP53 gene exon 4 from 100 breast cancer tissues. The proportion of the polymorphic forms of SNP72 in the Saudi breast cancer patients were: Arg/Arg (RR), 39%; Pro/Pro (PP), 36%; and Arg/Pro (RP), 25%...
April 1, 2012: Oncology Letters
https://www.readbyqxmd.com/read/22729912/individual-and-combined-effects-of-mdm2-snp309-and-tp53-arg72pro-on-breast-cancer-risk-an-updated-meta-analysis
#15
Hongtao Cheng, Biao Ma, Ran Jiang, Wei Wang, Hui Guo, Na Shen, Dapeng Li, Qunzi Zhao, Rui Wang, Pengfei Yi, Yue Zhao, Zeming Liu, Tao Huang
The tumor suppressor gene TP53 and its negative regulator murine double minute 2 are involved in multiple cellular pathways. Two potentially functional single nucleotide polymorphisms (SNPs) MDM2 SNP309 and TP53 R72P have been extensively investigated to be associated with breast cancer risk. However, the original studies as well as the subsequent meta-analysis, have yielded contradictory results for the individual effect of the two SNPs on breast cancer risk, plus that conflicting results also existed for the combined effects of MDM2 SNP309 and TP53 R72P on breast cancer risk...
September 2012: Molecular Biology Reports
https://www.readbyqxmd.com/read/22524196/retinal-ganglion-cell-rgc-death-in-glaucomatous-beagles-is-not-associated-with-mutations-in-p53-and-ntf4-genes
#16
Kumiko Kato, Noboru Sasaki, Barkur S Shastry
BACKGROUND: Glaucoma in humans is a second leading cause of irreversible vision loss in the world and can affect all age groups as well as all populations. The precise mechanism of retinal ganglion cell (RGC) death and progressive degeneration of optic nerve in glaucoma is not understood. It has been suggested that apoptosis is the common pathway that leads to the death of RGCs in glaucoma and that neurotrophin 4 (NTF4) protein plays a role in the protection of RGCs by activating tyrosine kinase receptors...
September 2012: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/22184967/-association-analysis-of-polymorphic-loci-of-tp53-and-nfkb1-genes-with-human-age-and-longevity
#17
O E Mustafina, T R Nasibullin, V V Érdman, I A Tuktarova
TP53 and NFKB1 genes represent considerable interest as candidate genes of human aging and longevity. The allele and genotype frequency distributions of TP53 R72P (rs1042522) polymorphism and NFKB1 2592 + 58T > A (rs4648110) polymorphism were characterized in groups of men and women of 21-109 years in the given research. No statistically significant distinctions in allele and genotype frequencies between long-livers, old people and other age groups were revealed. On the basis of logistic regression analysis results it is obviously possible to make the conclusion that polymorphism R72P of TP53 gene and polymorphism 2592 + 58T > A of NFKB1 genes is associated with the age mainly throughout elderly and senile ranges of years...
2011: Advances in Gerontology, Uspekhi Gerontologii
https://www.readbyqxmd.com/read/21931130/wdr36-and-p53-gene-variants-and-susceptibility-to-primary-open-angle-glaucoma-analysis-of-gene-gene-interactions
#18
Cristina Blanco-Marchite, Francisco Sánchez-Sánchez, María-Pilar López-Garrido, Mercedes Iñigez-de-Onzoño, Francisco López-Martínez, Enrique López-Sánchez, Lydia Alvarez, Pedro-Pablo Rodríguez-Calvo, Carmen Méndez-Hernández, Luis Fernández-Vega, Julián García-Sánchez, Miguel Coca-Prados, Julián García-Feijoo, Julio Escribano
PURPOSE: To investigate the role of WDR36 and P53 sequence variations in POAG susceptibility. METHODS: The authors performed a case-control genetic association study in 268 unrelated Spanish patients (POAG1) and 380 control subjects matched for sex, age, and ethnicity. WDR36 sequence variations were screened by either direct DNA sequencing or denaturing high-performance liquid chromatography. P53 polymorphisms p.R72P and c.97-147ins16bp were analyzed by single-nucleotide polymorphism (SNP) genotyping and PCR, respectively...
October 2011: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/21833626/combined-effects-of-mdm2-snp309-and-tp53-r72p-polymorphisms-and-soy-isoflavones-on-breast-cancer-risk-among-chinese-women-in-singapore
#19
Woon-Puay Koh, David Van Den Berg, Aizhen Jin, Renwei Wang, Jian-Min Yuan, Mimi C Yu
The MDM2 oncoprotein regulates the p53 pathway and, while functional polymorphisms of the MDM2 and p53 genes have been investigated for association with breast cancer risk, results are largely null or non-conclusive. We have earlier reported that the increased intake of soy isoflavones reduces risk of postmenopausal breast cancer, and experimental studies suggest that dietary isoflavones can down-regulate the expression of the MDM2 oncoprotein. In this study, we investigated the association between the MDM2 SNP309 and TP53 R72P polymorphisms and breast cancer risk using a case-control study of 403 cases and 662 controls nested among 35,303 women in The Singapore Chinese Health Study, a population-based, prospective cohort of middle-aged and elderly men and women who have been continuously followed since 1993...
December 2011: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/21706156/mdm2-snp309-and-tp53-r72p-associated-with-severe-and-febrile-neutropenia-in-breast-cancer-patients-treated-with-5-fu-epirubicin-cyclophosphamide
#20
Masatsugu Okishiro, Seung Jin Kim, Ryo Tsunashima, Takahiro Nakayama, Kenzo Shimazu, Atsushi Shimomura, Naomi Maruyama, Yasuhiro Tamaki, Shinzaburo Noguchi
The aim of this study was to investigate the association of two genetic polymorphisms, MDM2 SNP309 and TP53 R72P, with incidence of neutropenia in breast cancer patients treated with 5-FU/epirubicin/cyclophosphamide (FEC). Primary breast cancer patients (n = 216) treated with adjuvant FEC (60, 75 or 100 mg/m(2)) were included in this study. The association of genotypes of MDM2 SNP309 and TP53 R72P, determined by TaqMan SNP Genotyping Assays, with febrile neutropenia (FN) was investigated. In the patients treated with FEC100, G/G genotype for MDM2 SNP309 (G/G genotype( MDM2 )) was significantly (P < 0...
April 2012: Breast Cancer Research and Treatment
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