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Journal articles on the topic 'TP53 polymorphism'

Author: Grafiati

Published: 2 June 2025

Last updated: 31 July 2025

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1

Dabre, Soayebo, Abdou Azaque Zoure, Touwendpoulimdé Isabelle Kiendrébéogo, et al. "Involvement of p.R72P and PIN3 Ins16bp (TP53) Polymorphisms and the I157T (CHEK2) Mutation in Breast Cancer Occurrence in Burkina Faso." Asian Pacific Journal of Cancer Biology 8, no. 2 (2023): 135–45. http://dx.doi.org/10.31557/apjcb.2023.8.2.135-145.

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Introduction: The TP53 and CHEK2 genes have been described as breast cancer susceptibility genes and some of their polymorphisms have been associated with an increased risk of breast cancer in certain populations.Aim: The objective of this study was to investigate the p.R72P and PIN3 Ins16bp (TP53) polymorphisms and the I157T (CHEK2) mutation developping of breast cancer. Methods: This case-control study had enrolled 144 participants including 65 cases (breast cancer patients) and 79 controls (women without breast abnormalities) in the city of Ouagadougou in Burkina Faso. The DNA was extracted

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Nishizuka, Satoshi, Yukimi Ohmori, Takeshi Iwaya, and Keisuke Koeda. "Recurrence risk evaluation in stage IB gastric cancer with TP53 codon 72 polymorphism." Journal of Clinical Oncology 37, no. 15_suppl (2019): 4044. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.4044.

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4044 Background: Post-operative adjuvant chemotherapy is not currently indicated for Stage IB gastric cancer. However, about 10% of these patients experience recurrence and metastasis. Our previous study on a panel of gastric cancer cell lines indicated that TP53 codon 72 polymorphisms may affect the degree of biological malignancy. Hence, we hypothesized that the TP53 codon 72 polymorphisms may have been associated with post-operative survival without adjuvant chemotherapy. In this study, we investigated the risk of recurrence after treatment of Stage IB gastric cancer patients carrying the T

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Diakite, Brehima, Yaya Kassogue, Mamoudou Maiga, et al. "Abstract 7326: TP53 p.Pro47Ser polymorphism in breast cancer susceptibility in Mali." Cancer Research 84, no. 6_Supplement (2024): 7326. http://dx.doi.org/10.1158/1538-7445.am2024-7326.

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Abstract Background: The aim of this study was to assess the potential association of p.Pro47Ser polymorphisms of TP53 with the risk of developing breast cancer in the Malian population. Methods: We analyzed DNA samples from 72 breast cancer patients and 121 unrelated healthy, age-matched individuals to examine the presence of the polymorphisms. The genotyping of TP53 polymorphism was performed using PCR-RFLP and HRM (high-resolution melting) methods. Results: The genotypic frequencies of PP, PS, and SS were found to be 63.9% PP, 30.6% PS, and 5.6% SS in breast cancer patients, compared to 70.

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Liao, Fan, Li Yuan, Jinhong Zhu, Wei Chen, Yemu Zhao, and Jing He. "Association of TP53 rs1042522 C>G Polymorphism with Glioma Risk in Chinese Children." BioMed Research International 2022 (August 13, 2022): 1–6. http://dx.doi.org/10.1155/2022/2712808.

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Glioma is the most common intracranial malignancy. TP53 is a crucial tumor suppressor gene that plays an essential regulatory role in cell growth, apoptosis, and DNA repair. The TP53 rs1042522 C>G polymorphism has been reported to be strongly associated with various tumor risks. To assess the TP53 rs1042522 C>G polymorphism with glioma risk in Chinese children, we determined the genotypes of the TP53 rs1042522 C>G polymorphism in 171 glioma patients and 228 cancer-free controls by Taqman assay. We assessed the association of the polymorphism with glioma risk using odds ratio (OR) and

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Moe, Svein Erik, Fredrik A. Erland, Siren Fromreide, et al. "The TP53 Codon 72 Arginine Polymorphism Is Found with Increased TP53 Somatic Mutations in HPV(−) and in an Increased Percentage among HPV(+) Norwegian HNSCC Patients." Biomedicines 11, no. 7 (2023): 1838. http://dx.doi.org/10.3390/biomedicines11071838.

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Background: Somatic TP53 mutations are frequent in head and neck squamous cell carcinoma (HNSCC) and are important pathogenic factors. Objective: To study TP53 mutations relative to the presence of human papillomavirus (HPV) in tumors in HNSCC patients. Methods: Using a custom-made next-generation sequencing (NGS) panel on formalin-fixed, paraffin-embedded tumor tissue, we analyzed somatic TP53 mutations and the TP53 single-nucleotide polymorphism (SNP) codon 72 (P72R; rs1042522) (proline → arginine) from 104 patients with HNSCC. Results: Only 2 of 44 patients with HPV-positive (HPV(+)) HNSCC

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Deben, Christophe, Jolien Van den Bossche, Nele Van Der Steen, et al. "Deep sequencing of the TP53 gene reveals a potential risk allele for non–small cell lung cancer and supports the negative prognostic value of TP53 variants." Tumor Biology 39, no. 2 (2017): 101042831769432. http://dx.doi.org/10.1177/1010428317694327.

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The TP53 gene remains the most frequently altered gene in human cancer, of which variants are associated with cancer risk, therapy resistance, and poor prognosis in several tumor types. To determine the true prognostic value of TP53 variants in non–small cell lung cancer, this study conducted further research, particularly focusing on subtype and tumor stage. Therefore, we determined the TP53 status of 97 non–small cell lung cancer adenocarcinoma patients using next generation deep sequencing technology and defined the prognostic value of frequently occurring single nucleotide polymorphisms an

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Iordanishvili, Saba, Tornike Metreveli, Elene Lipartia, et al. "The HPV-TP53-MALAT1 Axis: Unravelling interactions in cervical cancer development." PLOS ONE 18, no. 10 (2023): e0291725. http://dx.doi.org/10.1371/journal.pone.0291725.

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Introduction Cervical cancer, primarily driven by Human Papillomavirus (HPV) infection, stands as a substantial global health challenge. The TP53 gene’s, Arg72Pro polymorphism has emerged as a noteworthy player in cervical cancer development, particularly among individuals harboring high-risk (HR) HPV types. Additionally, long non-coding RNAs (lncRNAs), exemplified by metastasis-associated lung adenocarcinoma transcript 1 (MALAT1), exert critical roles in cancer biology. This study delves into unravelling the intricate connections linking HPV infection, TP53 Arg72Pro polymorphism, and MALAT1 e

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Usategui-Martín, Ricardo, Nadia Galindo-Cabello, Salvador Pastor-Idoate, et al. "A Missense Variant in TP53 Could Be a Genetic Biomarker Associated with Bone Tissue Alterations." International Journal of Molecular Sciences 25, no. 3 (2024): 1395. http://dx.doi.org/10.3390/ijms25031395.

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Metabolic bone diseases cover a broad spectrum of disorders that share alterations in bone metabolism that lead to a defective skeleton, which is associated with increasing morbidity, disability, and mortality. There is a close connection between the etiology of metabolic bone diseases and genetic factors, with TP53 being one of the genes associated therewith. The single nucleotide polymorphism (SNP) Arg72Pro of TP53 is a genetic factor associated with several pathologies, including cancer, stroke, and osteoporosis. Here, we aim to analyze the influence of the TP53 Arg72Pro SNP on bone mass in

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F. Fahmy, Nahed, Nagwa S. Ahmed, Ghada Galal, et al. "Study the Role of Tp53 in the Development of Hepatocellular Carcinoma in HCV Infected Patients." Egyptian Journal of Medical Microbiology EJMM29, no. 4 (2020): 165–72. http://dx.doi.org/10.51429/ejmm29421.

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Background: Hepatocellular carcinoma (HCC) is considered as the primary malignancy of the liver that usually occurs on top of chronic viral hepatitis. The TP53 (tumor protein 53) is a tumor suppressor gene which is the key in tumor development and progression and the single nucleotide polymorphism (SNP) of the p53 gene codon 72 (p53Arg/Pro) changes the structure of the protein. Objectives: to determine the association of the TP53 Arg72Pro polymorphism with the risk of HCC development in Hepatitis C virus (HCV) infected Egyptian patients. Methodology: This is a case control study conducted in S

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Maiga, Mamoudou, Brehima Diakite, Yaya Kassogue, et al. "Abstract 7328: Relationship between PIN3 16bp duplication of TP53 and HPV in HIV women in Mali." Cancer Research 84, no. 6_Supplement (2024): 7328. http://dx.doi.org/10.1158/1538-7445.am2024-7328.

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Abstract Background: TP53 polymorphisms can influence the immune response to HPV, affecting TP53's role in cell cycle regulation and apoptosis, crucial for controlling HPV infection and preventing cancer. Objective: Explore the link between TP53 PIN3 16-bp duplication and HPV infection in HIV-positive Malian women. Methods: This study explored the link between PIN3 16-bp duplication polymorphism of TP53 and HPV infection in 50 HIV-positive women in Mali. Data included surveys, self-sampled vaginal swabs, and blood collection. HPV typing used GeneXpert, and PIN3 genotyping utilized AS-PCR. Resu

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Heinze, Britta, Leonie J. M. Herrmann, Martin Fassnacht, et al. "Less common genotype variants of TP53 polymorphisms are associated with poor outcome in adult patients with adrenocortical carcinoma." European Journal of Endocrinology 170, no. 5 (2014): 707–17. http://dx.doi.org/10.1530/eje-13-0788.

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ContextThe Li–Fraumeni tumor syndrome is strongly associated with adrenocortical carcinoma (ACC) and is caused by germline mutations in TP53 in 70% of cases. Also, TP53 polymorphisms have been shown to influence both cancer risk and clinical outcome in several tumor entities. We, therefore, investigated TP53 polymorphisms in a cohort of adult patients with ACC.ObjectiveEvaluation of the role of TP53 polymorphisms in adult patients with ACC.Subjects and methodsPeripheral blood for DNA extraction was collected from 72 ACC patients. Polymorphism analysis was carried out by amplification and seque

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Cintra, Hellen Silva, Juliana Castro Dourado Pinezi, Graziella Dias Pinheiro Machado, et al. "Investigation of Genetic Polymorphisms Related to the Outcome of Radiotherapy for Prostate Cancer Patients." Disease Markers 35 (2013): 701–10. http://dx.doi.org/10.1155/2013/762685.

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The purpose of this study was to evaluate the association betweenATM,TP53 andMDM2 polymorphisms in prostate cancer patients and morbidity after radiotherapy. The presence ofATM(rs1801516),TP53 (rs1042522, rs1800371, rs17878362, rs17883323, and rs35117667), andMDM2 (rs2279744) polymorphisms was assessed by direct sequencing of PCR fragments from 48 patients with histologically proven prostate adenocarcinoma and treated with external beam radiation. The side effects were classified according to the Radiation Therapy Oncology Group (RTOG) score. The results showed no association between clinical

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Tanara, G., C. Falugi, A. Cesario, S. Margaritora, P. Russo, and A. Cosimi. "TP53 Codon 72 Polymorphism does not Affect Risk of Cervical Cancer in Patients from the Gambia." International Journal of Biological Markers 18, no. 4 (2003): 280–83. http://dx.doi.org/10.1177/172460080301800405.

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Aims A case-control study was performed to investigate the relationship between cervical cancer and TP53 polymorphism at codon 72 in young black African women from The Gambia. Materials and Methods The TP53 polymorphism at codon 72 was examined by PCR amplification and SSCP analysis in 40 patients with primary cervical cancer and in 20 healthy women of the same age and from the same geographical area. The occurrence of TP53 polymorphism in combination with the HPV-16 E6 genotype (assayed by PCR) was evaluated. Results The distribution of TP53 genotypes in cervical cancer patients and in the co

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Grigor’eva, I. N., O. V. Efimova, A. A. Gurazheva, and V. N. Maksimov. "Frequency of hyperglycemia and polymorphism of TNF and TP53 genes in patients with acute pancreatitis, chronic pancreatitis, pancreatic cancer." Diabetes mellitus 24, no. 6 (2021): 511–20. http://dx.doi.org/10.14341/dm12439.

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BACKGROUND: «The vicious circle» of associations of diabetes mellitus (DM) with pancreatic pathology, when pancreatic diseases can initiate DM, and type 2 DM — cause functional and organic pancreatic pathology, determines the search for possible associations. Some studies have established a relationship between TNF or TP53 polymorphisms with DM or with pancreatic diseases.AIMS: to determine and compare fasting plasma glucose and the frequency of hyperglycemia in patients with acute pancreatitis (APp), chronic pancreatitis (CPp), pancreatic cancer (PCp) depending on gender, etiology or stage of

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Cavic, Milena, Jelena Spasic, Ana Krivokuca, et al. "TP53 and DNA-repair gene polymorphisms genotyping as a low-cost lung adenocarcinoma screening tool." Journal of Clinical Pathology 72, no. 1 (2018): 75–80. http://dx.doi.org/10.1136/jclinpath-2018-205553.

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AimTP53 and DNA repair polymorphisms have been proposed as cancer risk factors. This study evaluated the usability of TP53 Arg72Pro single-nucleotide polymorphism, XRCC1 Arg399Gln and RAD51 G135C as a low-cost lung adenocarcinoma screening tool.Patients and methodsThis case–control study included 78 atients with lung adenocarcinoma and 79 healthy matched controls. TP53, XRCC1 and RAD51 genotyping was done by PCR followed by restriction length polymorphism. Descriptive analyses included genotype and allelic frequencies and deviations of the frequencies from those expected under Hardy-Weinberg e

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Rodrigues, Guilherme Oliveira, Larissa Sousa Silva Bonasser, Maurício De Lima Santos, Caroline Ferreira Fratelli, Caliandra Maria de Souza Silva, and Izabel Cristina Rodrigues da Silva. "TP53 Arg72Pro polymorphism and its relationship with major depressive disorder." Concilium 24, no. 14 (2024): 214–23. http://dx.doi.org/10.53660/clm-3726-23p17.

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This study investigates the association between the TP53 Arg72Pro polymorphism and major depressive disorder (MDD) using a case-control approach. The study sample comprised 97 individuals: 16 in the case group diagnosed with MDD and 81 in the control group. Genotyping was conducted using the PCR-RFLP technique, with the genotypic frequencies calculated by direct counting and statistical significance at 5% (P<0.05). Results indicated that the TP53 Arg72Pro polymorphism's Pro allele was significantly more frequent in the MDD case group. These findings suggest that the Pro allele is associated

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Zmorzynski, Szymon Andrzej, Iwona Korszen-Pilecka, Magdalena Wojcierowska-Litwin, et al. "TP53 polymorphism in plasma cell myeloma." Folia Histochemica et Cytobiologica 55, no. 4 (2018): 203–11. http://dx.doi.org/10.5603/fhc.a2017.0022.

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Verheijen, F. M., M. Sprong, J. M. E. Kloosterman, G. Blaauw, J. H. H. Thijssen, and M. A. Blankenstein. "TP53 Mutations in Human Meningiomas." International Journal of Biological Markers 17, no. 1 (2002): 42–48. http://dx.doi.org/10.1177/172460080201700105.

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Overexpression of p53 has been reported to play a role in the development of neoplasms of the central nervous system. Meningiomas are generally benign intracranial tumors originating from the meninges. Overexpression of the p53 protein in meningiomas and an association with histological type and recurrence has been reported. Mutation of the TP53 gene leads to a more stable p53 protein in quantities high enough for detection by immunohistochemistry. In the search for these mutations the core domain of the TP53 gene of meningiomas has been analyzed. Only a very low incidence of mutations was rep

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Gao, Lin-Bo, Li-Juan Li, Xin-Min Pan, et al. "A genetic variant in the promoter region of miR-34b/c is associated with a reduced risk of colorectal cancer." Biological Chemistry 394, no. 3 (2013): 415–20. http://dx.doi.org/10.1515/hsz-2012-0297.

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Abstract The miR-34 family members, described as potential tumor suppressors, were downregulated in colorectal cancer (CRC). Loss of miR-34 impairs TP53-mediated cell death, while overexpression of miR-34 induces apoptosis. A potentially functional polymorphism (i.e., rs4938723T/C) in the promoter region of pri-miR-34b/c was predicted to influence the GATA-X binding sites. We aimed to investigate the association between miR-34b/c rs4938723 and TP53 Arg72Pro polymorphisms and the risk of CRC. We genotyped the two polymorphisms in 347 CRC patients and 488 healthy controls using polymerase chain

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Olkova, MV, VS Petrushenko, and GYu Ponomarev. "Analysis of 13 TP53 and WRAP53 polymorphism frequencies in russian populations." Features of HIV and SARS-CoV-2 coinfection in a pandemic, no. 2021(1) (January 2021): 30–39. http://dx.doi.org/10.24075/brsmu.2021.001.

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In the last decade the search for and annotation of human genome polymorphisms associated with phenotype have become particularly important concerning the opportunity of their use in medical and population genetics, pharmacogenomics and evolutionary biology. The study was aimed to calculate the frequencies and analyze the prevalence of 13 germline polymorphisms of two genes, ТР53 encoding the genome-keeper p53 protein and WRAP53 involved in regulation of p53 production, in 28 Russian populations. We obtained data on 9 exonic ТР53 variants (rs587781663, rs17882252, rs150293825, rs112431538, rs1

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Słomiński, Bartosz, Maria Skrzypkowska, Monika Ryba-Stanisławowska, Małgorzata Myśliwiec, and Piotr Trzonkowski. "Associations of TP53 codon 72 polymorphism with complications and comorbidities in patients with type 1 diabetes." Journal of Molecular Medicine 99, no. 5 (2021): 675–83. http://dx.doi.org/10.1007/s00109-020-02035-1.

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Abstract Wild-type TP53 plays an important role in the regulation of immune response and systemic inflammation. In type 1 diabetes (T1D), TP53 pathways are upregulated and an increased susceptibility to apoptosis is observed. We hypothesize that TP53 codon 72 polymorphism could be associated with complications and comorbidities in patients with T1D. We have investigated the associations of the TP53 codon 72 polymorphism with the T1D complications and comorbidities (retinopathy, nephropathy, hypertension, dyslipidemia, autoimmune thyroiditis, and celiac disease) in 350 patients. The key results

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Tsuchiya, Yasuo, Sergio Baez, Alfonso Calvo, et al. "Evidence that Genetic Variants of Metabolic Detoxication and Cell Cycle Control Are Not Related to Gallbladder Cancer Risk in Chilean Women." International Journal of Biological Markers 25, no. 2 (2010): 75–78. http://dx.doi.org/10.1177/172460081002500203.

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Background and aims High consumption of red chili pepper has been shown to be a risk factor for gallbladder cancer (GBC) in Chilean women. However, genetic factors in addition to this and other environmental factors may also be associated with an increased risk of GBC. We aimed to examine the associations of cytochrome P450 1A1 (CYP1A1), glutathione S-transferase class mu (GSTM1), and tumor protein p53 (TP53) polymorphisms with the risk of GBC in Chilean women. Methods A hospital-based case-control study of 57 patients with GBC, 119 patients with gallstones, and 70 controls was conducted. The

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Zhao, Yichao, Chaoqian Zhu, Qing Chang, et al. "TP53 rs28934571 polymorphism increases the prognostic risk in hepatocellular carcinoma." Biomarkers in Medicine 15, no. 9 (2021): 615–22. http://dx.doi.org/10.2217/bmm-2020-0418.

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Aim: Hepatocellular carcinoma (HCC) is considered to be the third leading cause of cancer death. The homologous gene of TP53 is significant in the occurrence and development of cancer. This study explored the relationship between TP53 rs28934571 polymorphism and HCC risk in Guangxi, China. Materials & methods: We first screened the association through bioinformatics. Additionally, a case–control study was performed to further verify the relationship between gene polymorphism and HCC risk after collecting clinical characteristics. Results: Results showed that allele A on TP53 rs28934571 was

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Barlow, Jason W., Marieke Mous, Joe C. Wiley, et al. "Germ Line BAX Alterations Are Infrequent in Li-Fraumeni Syndrome." Cancer Epidemiology, Biomarkers & Prevention 13, no. 8 (2004): 1403–6. http://dx.doi.org/10.1158/1055-9965.1403.13.8.

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Abstract Multiple early-onset tumors, frequently associated with germ line TP53 mutations characterize the Li-Fraumeni familial cancer syndrome (LFS). LFS-like (LFS-L) families have lower rates of germ line TP53 alteration and do not meet the strict definition of LFS. This study examined 7 LFS cell lines and 30 LFS and 36 LFS-L primary leukocyte samples for mutations in the proapoptotic p53-regulated gene BAX. No germ line BAX mutations were found. A known BAX polymorphism was observed, yet there was no correlation between polymorphism frequency and TP53 status in either LFS or LFS-L. In summa

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Drokow, Emmanuel Kwateng, Yuqing Chen, Hafiz Abdul Waqas Ahmed, et al. "The relationship between leukemia and TP53 gene codon Arg72Pro polymorphism: analysis in a multi-ethnic population." Future Oncology 16, no. 14 (2020): 923–37. http://dx.doi.org/10.2217/fon-2019-0792.

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Aim: Many studies have analyzed the relationship between Arg72Pro polymorphism of TP53 and leukemia; nevertheless, the findings continue to be indeterminate. We, therefore, performed an updated meta-analysis in multi-ethnic groups using specialized software for genome-wide association studies meta-analysis. Materials & methods: PubMed, EMBASE and Google Scholar were searched up to October 2018. An odds ratio (OR) with the corresponding 95% CI was used to evaluate the strength in the association. Results: This meta-analysis included 16 studies with 2337 cases and 9494 controls. In the overa

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F. A. Nerweyi, Farida. "The Relationship of Gliomas with Tp53 Rs1042522 C > G And Gliomas in Duhok." Journal Of Duhok University 23, no. 2 (2020): 157–65. http://dx.doi.org/10.26682/sjuod.2020.23.2.17.

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A tumor suppressor gene TP53 has a central role in controlling the cell cycle, apoptosis, as well as DNA damage repair. A common polymorphism in TP53 is the Arg72Pro exon 4 polymorphism. Polymorphism has been proposed to be associated with genetically determined susceptibility in different types of cancers, including glioma. This study was conducted to estimate the distribution of glioma within age groups, gender, smokers, and residence of individual also to investigate the distribution of TP53 Arg72Pro SNPs genotype in glioma, and determine whether TP53 Arg72Pro polymorphism is a possible rel

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F. A. Nerweyi, Farida. "The Relationship of Gliomas with Tp53 Rs1042522 C > G And Gliomas in Duhok." Journal Of Duhok University 23, no. 2 (2020): 157–65. http://dx.doi.org/10.26682/sjuod.2020.23.2.16.

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A tumor suppressor gene TP53 has a central role in controlling the cell cycle, apoptosis, as well as DNA damage repair. A common polymorphism in TP53 is the Arg72Pro exon 4 polymorphism. Polymorphism has been proposed to be associated with genetically determined susceptibility in different types of cancers, including glioma. This study was conducted to estimate the distribution of glioma within age groups, gender, smokers, and residence of individual also to investigate the distribution of TP53 Arg72Pro SNPs genotype in glioma, and determine whether TP53 Arg72Pro polymorphism is a possible rel

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De Alcântara, Andréia Michelle Alves Cunha, Ivan de Alcântara Barbosa Barros, Ivan Barbosa Barros, et al. "IMPACT OF P21 SER31ARG AND TP53 ARG72PRO POLYMORPHISMS ON HPV SUSCEPTIBILITY AND CERVICAL LESION SEVERITY." ARACÊ 7, no. 7 (2025): 39126–45. https://doi.org/10.56238/arev7n7-226.

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Introduction: Although preventable and treatable, Uterine Cervical Cancer (UCC) continues to claim lives every year. Even though Human Papillomavirus (HPV) is the main etiological agent of this disease, single nucleotide polymorphisms (SNPs) in genes involved in cell cycle control, such as P21 and TP53, are important factors in cancer development. Objective: This retrospective case-control study aimed to investigate the association of the P21 Ser31Arg (rs1801270) and TP53 Arg72Pro (rs1042522) polymorphisms with HPV infection persistence and with the progression of Cervical Intraepithelial Neop

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Tsukanov, V. V., A. V. Vasyutin, M. V. Smolnikova, S. Kh Hirlig-ool, E. V. Kasparov, and J. L. Tonkikh. "Polymorphism of apoptosis marker genes in the blood of indigenous people with gastric cancer in the Republic of Tyva." Meditsinskiy sovet = Medical Council, no. 8 (June 10, 2024): 170–75. http://dx.doi.org/10.21518/ms2024-198.

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Introduction. Russia is among the leaders in incidence and mortality from gastric cancer (GC). The incidence of gastric cancer in the Republic of Tyva is especially abnormally high. Currently, there is interest in studying genetic factors in various types of cancer. But for GC, such research is not enough.Aim. To study the polymorphism of the apoptosis marker genes CASP9 (rs1052576), TP53 (rs1042522), FAS/APO-1 (rs2234767) in the blood of indigenous people with GC in the Republic of Tyva.Materials and methods. 107 Tuvinians were examined (47 people with GC and 60 persons in the control group).

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Ara, S., P. S. Y. Lee, M. F. Hansen, and H. Saya. "Codon 72 polymorphism of the TP53 gene." Nucleic Acids Research 18, no. 16 (1990): 4961. http://dx.doi.org/10.1093/nar/18.16.4961.

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Costa, Kárita Antunes, and Lidia Andreu Guillo. "TP53 codon 72 polymorphism in pigmentary phenotypes." Journal of Biosciences 37, no. 1 (2012): 33–39. http://dx.doi.org/10.1007/s12038-012-9183-9.

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Dong, Huajie, Tong Zhou, Peng Li, et al. "Association of TP53 polymorphisms with the acquisition of EGFR T790M mutations in patients with first- or second-generation EGFR-TIK progression." Journal of Clinical Oncology 40, no. 16_suppl (2022): e20560-e20560. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.e20560.

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e20560 Background: Lung cancer is the leading cause of cancer death worldwide. EGFR tyrosine kinase inhibitors (TKIs) has transformed management in those patients. However, the majority of patients will become resistant to EGFR-TKIs after a period of time. The T790M acquired mutation in exon 20 of the EGFR is the predominant molecular mechanism of acquired resistance. In first-line treatment of global patients with NSCLC, osimertinib had better efficacy compared to first-generation TKIs. In the FLAURA study, the median PFS with first-line osimertinib in Asians was only 16.5 months, compared to

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Dong, Huajie, Tong Zhou, Peng Li, et al. "Association of TP53 polymorphisms with the acquisition of EGFR T790M mutations in patients with first- or second-generation EGFR-TIK progression." Journal of Clinical Oncology 40, no. 16_suppl (2022): e20560-e20560. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.e20560.

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e20560 Background: Lung cancer is the leading cause of cancer death worldwide. EGFR tyrosine kinase inhibitors (TKIs) has transformed management in those patients. However, the majority of patients will become resistant to EGFR-TKIs after a period of time. The T790M acquired mutation in exon 20 of the EGFR is the predominant molecular mechanism of acquired resistance. In first-line treatment of global patients with NSCLC, osimertinib had better efficacy compared to first-generation TKIs. In the FLAURA study, the median PFS with first-line osimertinib in Asians was only 16.5 months, compared to

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Bulgakova, O., A. Kussainova, and R. Bersimbaev. "The cell cycle regulatory gene polymorphisms TP53 (rs1042522) and MDM2 (rs2279744) in lung cancer: a meta-analysis." Vavilov Journal of Genetics and Breeding 24, no. 7 (2020): 77–784. http://dx.doi.org/10.18699/vj20.673.

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Lung cancer is one of the most common types of cancer in the world. Although the mechanism of lung cancer is still unknown, a large number of studies have found a link between gene polymorphisms and the risk of lung cancer. The tumor suppressor p53 plays a crucial role in maintaining genomic stability and tumor prevention. MDM2 is a critical regulator of the p53 protein. Despite the importance of p53 pathway in cancer, data on the contribution of SNPs of TP53 (rs1042522) and MDM2 (rs2279744) to the development of lung cancer are very contradictory. A metaanalysis that collects quantitative dat

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Grossmann, Vera, Valentina Artusi, Susanne Schnittger, et al. "The TP53 Codon72 Polymorphism Is Associated with TP53 Mutations in Chronic Lymphocytic Leukemia." Blood 118, no. 21 (2011): 1783. http://dx.doi.org/10.1182/blood.v118.21.1783.1783.

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Abstract Abstract 1783 TP53 is one of the most important cell-cycle regulator genes and its tumor suppressor activity is fundamental in cellular responses. Mutations in TP53 are known to influence clinical outcome in diverse diseases. In particular, a relationship between TP53 mutations and a poor prognosis has been established in chronic lymphocytic leukemia (CLL), which is one of the most commonly diagnosed lymphoid malignancies in Western countries. Thus far, it has been demonstrated that TP53 mutations are associated with codon72 polymorphism in different diseases e.g. breast cancer, lung

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Ahmed, Hasib Uddin, Abdul Hafiz, M. M. Towhidul Islam, and Yearul Kabir. "Exploring the relationship between genetic polymorphisms and cancer in the Bangladeshi population." Journal of Bangladesh Academy of Sciences 49, no. 1 (2025): 1–20. https://doi.org/10.3329/jbas.v49i1.81802.

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Since the completion of the Human Genome Project two decades ago, genetic polymorphisms in human DNA have gained significant attention for their role in diseases, particularly cancer. Cancer susceptibility studies have examined Single Nucleotide Polymorphisms (SNPs) across various genes, but populations such as Bangladeshis have remained underrepresented in this field of research. This review consolidates all 54 studies on cancer-related genetic polymorphisms in the Bangladeshi population, focusing on genetic factors involved in cancer progression, and 5 more studies on treatment toxicity asso

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Mishchuk, Ya M., Ye V. Kharkivska, S. V. Serga, et al. "Association of TP53 Arg72Pro polymorphism (rs1042522) with bladder cancer risk in the Ukrainian population." Faktori eksperimental'noi evolucii organizmiv 23 (September 9, 2018): 214–18. http://dx.doi.org/10.7124/feeo.v23.1017.

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Aim. To determine the frequency of TP53 polymorphic variants in bladder cancer patients and define possible association of this polymorphism with a bladder cancer in Ukrainians patients. Methods. The genotypes of TP53 gene at codon 72 were detected by PCR with allele specific primers. We investigated Arg72Pro polymorphism in 114 DNA samples of patients with bladder cancer. The PCR-amplified DNA products were subjected to electrophoresis in 3 % agarose. Results. The distribution of genotypes in group of patients with a bladder cancer was: Arg/Arg – 59.6 % (n=68), Arg/Pro – 40.4 % (n=46), Pro/Pr

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Lung, For-Wey, Hung-Yu Lin, Chun-Hsiung Huang, Wen-Jen Wu, and Li-Ching Chang. "TP53 codon 72 Gene Polymorphism Paradox in Associated with Various Carcinoma Incidences, Invasiveness and Chemotherapy Responses." International Journal of Biomedical Science 4, no. 4 (2008): 248–54. http://dx.doi.org/10.59566/ijbs.2008.4248.

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TP53 is the most common mutated gene in human cancers. Approximately half of all human malignancies exhibit TP53 mutations. The TP53 codon 72 polymorphism is a single-nucleotide polymorphism (SNP) in exon 4, resulting in the expression of either arginine (CGC) or proline (CCC) residues. In this article, we review literatures published in MEDLINE, and attempt to describe how these two polymorphic variants of TP53 are functionally distinct, and how they influence cancer vulnerability and response to chemotherapy. The Arg72 variant has been shown to be more likely to induce apoptosis than the Pro

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Haghnazari, Lida, and Ramin Sabzi. "Relationship between TP53 and interleukin-6 gene variants and the risk of types 1 and 2 diabetes mellitus development in the Kermanshah province." Journal of Medicine and Life 14, no. 1 (2021): 37–44. http://dx.doi.org/10.25122/jml-2019-0150.

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Diabetes mellitus (DM) is a metabolic disorder that results from insufficient secretion or insulin resistance, or both. Insulin secretion deficiency leads to chronic hyperglycemia along with impaired metabolism of proteins, lipids, and carbohydrates. This study aimed to investigate the TP53 gene SNP (single nucleotide polymorphism) rs1042522 genotype and the interleukin-6 (IL-6) gene SNP rs1800795 genotype in DM and control groups. This study was performed on 70 patients with type 1 DM, 100 patients with type 2 DM without related complications, 66 control subjects for type 1 DM, and 95 control

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Dolgikh, Oleg V., and Olga A. Kazakova. "Expression of the TR53 oncosuppressor gene modified with benzo[a]pyrene and the SARS-COV-2 vaccine antigen in an in vitro experiment." Hygiene and sanitation 102, no. 10 (2023): 1043–47. http://dx.doi.org/10.47470/0016-9900-2023-102-10-1043-1047.

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Introduction. The impact of chemical and biological environmental factors is associated with the risk of a genetic predisposition to the development of cardiovascular and cancer-associated diseases, which determines the relevance of the search for genetic indicator markers of early disorders in the mRNA structure. Materials and methods. The analysis of TP53 rs1042522 gene polymorphism, as well as the relative normalized expression level of TP53 hs1034249_m1 transcript, in whole blood cell culture in healthy volunteers, both spontaneous and induced by 24-hour incubation with benzo[a]pyren

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Chandel, Neha, Ashish Chauhan, and Kamlesh Guleria. "The p.Pro47Ser Polymorphism of TP53: A Systematic Review." International Journal of Cancer Research 9, no. 1 (2012): 1–8. http://dx.doi.org/10.3923/ijcr.2013.1.8.

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Govindhasamy, Rekha, Paramesh Govindhasamy, Rajitha Vanga, and Pushpa Burute. "Role of TP53 Gene Polymorphism in Male Infertility." International Journal of Infertility & Fetal Medicine 12, no. 2 (2021): 44–48. http://dx.doi.org/10.5005/jp-journals-10016-1218.

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Zorić, Arijana, Anđela Horvat, Melita Balija, and Neda Slade. "The Arg72Pro Polymorphism of TP53 in Croatian Population." Croatica Chemica Acta 85, no. 2 (2012): 239–43. http://dx.doi.org/10.5562/cca1866.

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Futreal, P. A., J. C. Barrett, and R. W. Wiseman. "An Alu polymorphism intragenic to the TP53 gene." Nucleic Acids Research 19, no. 24 (1991): 6977. http://dx.doi.org/10.1093/nar/19.24.6977.

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Denisov, Evgeniy V., Nadejda V. Cherdyntseva, Nicolay V. Litvyakov, et al. "TP53 mutations and Arg72Pro polymorphism in breast cancers." Cancer Genetics and Cytogenetics 192, no. 2 (2009): 93–95. http://dx.doi.org/10.1016/j.cancergencyto.2009.03.014.

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Graziani, D., S. Romagnoli, B. Cassani, R. M. Alfano, M. Roncalli, and G. Coggi. "An Ava I polymorphism in the TP53 gene." Molecular and Cellular Probes 13, no. 5 (1999): 393–95. http://dx.doi.org/10.1006/mcpr.1999.0256.

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Irtegun-Kandemir, Sevgi, Irmak Icen-Taskin, and Omer Munzuroglu. "TP53 rs1042522 polymorphism and early-onset breast cancer." Journal of Research in Medical Sciences 25, no. 1 (2020): 25. http://dx.doi.org/10.4103/jrms.jrms_506_19.

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Uno, M., S. M. Oba-Shinjo, A. Wakamatsu, et al. "Association of TP53 Mutation, p53 Overexpression, and p53 Codon 72 Polymorphism with Susceptibility to Apoptosis in Adult Patients with Diffuse Astrocytomas." International Journal of Biological Markers 21, no. 1 (2006): 50–57. http://dx.doi.org/10.1177/172460080602100108.

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Clarification of TP53 alterations is important to understand the mechanisms underlying the development of diffuse astrocytomas. It has been suggested that the alleles of TP53 at codon 72 differ in their ability to induce apoptosis in human cancers. The aim of this study was to analyze the possible association of TP53 mutation, p53 overexpression, and p53 codon 72 polymorphism with susceptibility to apoptosis in adult Brazilian patients with diffuse astrocytomas. We analyzed 56 surgical specimens of diffuse astrocytomas for alterations of TP53, using polymerase chain reaction single-strand conf

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Vieira, Jussane, Afonso Nazário, and João Pesquero. "Abstract PO3-15-02: TP53 GENE POLYMORPHISM AT CODON 72 AS A RESPONSE PREDICTOR FOR NEOADJUVANT CHEMOTHERAPY." Cancer Research 84, no. 9_Supplement (2024): PO3–15–02—PO3–15–02. http://dx.doi.org/10.1158/1538-7445.sabcs23-po3-15-02.

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Abstract Introduction: Breast cancer is one of the most prevalent in women in the world and has shown extensive changes in treatment in recent decades. More patients are undergoing neoadjuvant chemotherapy in order to achieve pathological complete response (CPR) and perform less aggressive surgeries. CPR increases overall and disease-free survival and the decrease in tumor size increases the chances of conservative surgery. We have numerous studies that propose to discover CPR markers. Predictive factors of response to chemotherapy are important for treatment planning and the P53 gene, apoptos

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Isakova, Jainagul T., E. T. Talaibekova, K. B. Makieva, D. A. Asambaeva, B. B. Sultangazieva, and A. A. Aldashev. "Association between XRCC1 ARG399GLN, TP53 ARG72PRO and MDM2 T309G polymorphisms and the risk of breast cancer in women of the Kyrgyz population." Russian Journal of Oncology 21, no. 3 (2016): 131–35. http://dx.doi.org/10.18821/1028-9984-2016-21-3-131-135.

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Aim. To study an association between Arg399Gln of XRCC1 gene, Arg72Pro of TP53 gene and T309G of MDM2 gene polymorphisms and breast cancer (BC) rate in women of the Kyrgyz population Material and Methods. Genomic DNA was obtainedfrom the whole blood of 117 breast cancer patients and 102 cancer-free healthy women residing in the Kyrgyz Republic. XRCC1 (Arg399Gln), TP53(Arg72Pro) and MDM2 (T309G) genotyping was carried out by restriction fragment length polymorphism (RFLP) assay. Results. Women with the 399Gln allele had 1,57 fold higher risk (OR=1,57; p=0,034) of developing breast cancer than c

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