TP53 gene mutations in plasma DNA of cancer patients

Silva, José M.; González, R. N.; Domínguez, Gemma; García, José M.; España, Pilar; Bonilla, Félix

doi:10.1002/(sici)1098-2264(199902)24:2<160::aid-gcc10>3.0.co;2-c

Cited by 46 publications

(11 citation statements)

References 7 publications

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“…Several studies showed that concentration of DNA from serum/plasma was significantly higher from patients with a variety of different cancers when compared with healthy controls (18)(19)(20)(21). Moreover, DNA alterations in serum/plasma DNA were associated with cancers (21)(22)(23)(24)(25), and in several reports, the DNA alterations identified in the serum or plasma of cancer patients were identical to those found in the primary tumor (19,(26)(27)(28). In studies of liver cancer, mutations in p53 at Ser 249 from plasma DNA were associated with aflatoxin B 1 exposure in cases with hepatitis B viral infection and were detected before cancer diagnosis (29)(30)(31).…”

Section: Introductionmentioning

confidence: 99%

Quantitative Detection of p53 Mutations in Plasma DNA from Tobacco Smokers

et al. 2006

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In lung tumors, the p53 tumor suppressor gene is commonly mutated with a characteristic mutation spectrum. The amount of and alterations in plasma DNA, such as mutations in p53, were associated with several cancers. Few studies used quantitative methods of high sensitivity. Previously, we observed p53 mutations in the noncancerous tissue that differed from those in lung tumors using the highly sensitive p53 mutation load assay. Based on our observation of an increased p53 mutation load in nontumorous lung tissue in smokers, we hypothesized that plasma DNA may contain mutant p53 indicative of tobacco smoke exposure and will be an effective biomarker of lung cancer or smoking exposure. We modified the p53 mutation load assay to detect mutations at p53 codons 248 and 249, common mutations in lung cancer, in plasma DNA samples with a sensitivity of 1:5,000. The assay was applied to a set of lung cancer cases (n = 39), hospital controls (n = 21), and population controls (n = 20) from a larger study. Controls were selected to consist of equal numbers of both ever and never smokers. The p53 mutation load (mutated p53 copies per total number of p53 copies) was associated with smoking (P = 0.06), but not with lung cancer (P = 0.59). Most of the individuals with p53 mutations observed in plasma DNA were ever smokers and the p53 mutation load was higher in those who smoked for longer durations (P = 0.04). In summary, we were able to detect p53 mutations in plasma DNA from healthy individuals and our data suggest that p53 mutations in plasma DNA may be a marker of carcinogen exposure from tobacco smoke.

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Section: Introductionmentioning

confidence: 99%

Quantitative Detection of p53 Mutations in Plasma DNA from Tobacco Smokers

et al. 2006

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“…[5][6][7][8] Similarly, these alterations, and others in several microsatellites, have been observed in patients with many other malignancies, such as melanomas, and lung, breast, head and neck, pancreatic, and renal carcinomas. [9][10][11][12][13][14][15][16][17] The prognostic implications of circulating plasma DNA in patients with malignancies regarding the outcome of the disease is currently undergoing evaluation, although a correlation with poor survival in pancreatic carcinomas has been reported. 12 A new recently published plasma DNA utility with tumour DNA features has been used as a method of screening for somatic mutations frequently found in tumours with the objective of detecting these alterations in the preclinical phase of the disease.…”

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confidence: 99%

Detection of epithelial tumour RNA in the plasma of colon cancer patients is associated with advanced stages and circulating tumour cells

Silva

Rodríguez²,

García³

et al. 2002

Gut

134

110

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Background: Although circulating tumour DNA has been detected in patients with different types of cancer, little is known of free RNA in cancer patients. Aims: We investigated the presence of RNA from epithelial tumours in plasma from patients with colorectal carcinomas, and its correlation with tumour characteristics and circulating tumour cells. Methods: β-actin mRNA was analysed to assess the viability of plasma RNA in samples from 53 patients with colonic cancer and 25 controls. Subsequently, nested primers were used to detect the presence of cytokeratin 19 (CK19) and carcinoembryonic antigen (CEA) RNA in the same samples. Nine clinicopathological parameters were studied to correlate the molecular and clinical parameters. Additionally, we investigated for micrometastases in blood in 18 of these patients and in 10 of the controls samples. Results: All samples had detectable quantities of β-actin RNA. In the controls, one case (4%) was positive for CEA and five (20%) for CK19 RNA; of the 53 patients, 17 cases (32%) were positive for CEA and 39 (73.6%) for CK19 RNA. This was statistically significant (p=0.000001). Advanced stages (p=0.03) and soluble CEA status (p=0.03) were associated with the presence of CEA, CK19, or both RNAs in plasma. Lymph node metastases (p=0.06) and vascular invasion (p=0.07) were almost significant. On the basis of these results, we examined the possible presence of micrometastases in blood in several of these patients. The presence of plasma tumour RNA was found to be associated with circulating tumour cells in blood (p=0.04). Conclusions: Epithelial tumour RNA is detectable in plasma from colon cancer patients. This molecular event is associated with advanced stages and circulating tumour cells. Our results could offer new approaches in the diagnosis and monitoring of colon cancer.

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“…[29,30] At the following years, in addition to RAS mutations, other known cancer tissue specific mutations (such as TP53 mutations) were detected in ctDNA as part of the total cfDNA pool, which specifically derived from tumors in plasma isolated cfDNAs of the patients with several different cancers including breast, colon, lung, melanoma and hepatocellular carcinoma. [31] In addition to genetic alterations, cancer tissue specific epigenetic alterations such as hyper-methylation in promoter of suppressor genes were also identified in blood ctDNAs of cancer patients. [32] Recent advancements in genomics and bioinformatics research techniques cause increase in cfDNA detection method development and clinical utility investigation research studies.…”

Section: Roles Of Ctdnas In Bcmentioning

confidence: 99%

“…[19,31,46,47] Before utilization of ctDNA analysis methods in clinical practice, more data should be obtained by using different methods, and more clinical studies are needed. Since the patient-derived ctDNAs only inform us about the dying tumor cell genomes, the obtained data may be misleading about the genetic alterations in resistant tumor cell populations, and this possibility should also be further investigated.…”

Section: Conclusion and Future Perspectivesmentioning

confidence: 99%

Role of Circulating Tumor Cells and Cell-Free Tumor Deoxyribonucleic Acid Fragments as Liquid Biopsy Materials in Breast Oncology

Akıllılar¹

2017

TJ Oncol

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SUMMARYBreast cancer is the most commonly diagnosed type of cancer among females worldwide. It is also the leading cause of female cancer-related death in developing countries. Though novel biomarkers and new strategies for diagnosis, monitoring course of disease, and treatment of breast cancer have been found, these methods are invasive, costly, labor-intensive, and inadequate to fully gauge treatment response and disease recurrence. Therefore, novel biomarkers with greater sensitivity and specificity, and which are easy to perform are needed in breast cancer oncology. There is growing interest in the potential use of circulating tumor cells and circulating tumor deoxyribonucleic acid fragments in liquid biopsy as non-invasive biopsy materials for early detection of breast cancer, monitoring disease progression, and understanding reasons for treatment resistance. This review is a discussion of current status of utilization of these liquid biopsy materials in breast oncology.

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TP53 gene mutations in plasma DNA of cancer patients

Cited by 46 publications

References 7 publications

Quantitative Detection of p53 Mutations in Plasma DNA from Tobacco Smokers

Quantitative Detection of p53 Mutations in Plasma DNA from Tobacco Smokers

Detection of epithelial tumour RNA in the plasma of colon cancer patients is associated with advanced stages and circulating tumour cells

Role of Circulating Tumor Cells and Cell-Free Tumor Deoxyribonucleic Acid Fragments as Liquid Biopsy Materials in Breast Oncology

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