• Title/Summary/Keyword: Cancer diagnostics

Search Result 95, Processing Time 0.021 seconds

Massive Parallel Sequencing for Diagnostic Genetic Testing of BRCA Genes - a Single Center Experience

  • Ermolenko, Natalya A;Boyarskikh, Uljana A;Kechin, Andrey A;Mazitova, Alexandra M;Khrapov, Evgeny A;Petrova, Valentina D;Lazarev, Alexandr F;Kushlinskii, Nikolay E;Filipenko, Maxim L
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.16 no.17
    • /
    • pp.7935-7941
    • /
    • 2015
  • The aim of this study was to implement massive parallel sequencing (MPS) technology in clinical genetics testing. We developed and tested an amplicon-based method for resequencing the BRCA1 and BRCA2 genes on an Illumina MiSeq to identify disease-causing mutations in patients with hereditary breast or ovarian cancer (HBOC). The coding regions of BRCA1 and BRCA2 were resequenced in 96 HBOC patient DNA samples obtained from different sample types: peripheral blood leukocytes, whole blood drops dried on paper, and buccal wash epithelia. A total of 16 random DNA samples were characterized using standard Sanger sequencing and applied to optimize the variant calling process and evaluate the accuracy of the MPS-method. The best bioinformatics workflow included the filtration of variants using GATK with the following cut-offs: variant frequency >14%, coverage ($>25{\times}$) and presence in both the forward and reverse reads. The MPS method had 100% sensitivity and 94.4% specificity. Similar accuracy levels were achieved for DNA obtained from the different sample types. The workflow presented herein requires low amounts of DNA samples (170 ng) and is cost-effective due to the elimination of DNA and PCR product normalization steps.

Discovery of Urinary Biomarkers in Patients with Breast Cancer Based on Metabolomics

  • Lee, Jeongae;Woo, Han Min;Kong, Gu;Nam, Seok Jin;Chung, Bong Chul
    • Mass Spectrometry Letters
    • /
    • v.4 no.4
    • /
    • pp.59-66
    • /
    • 2013
  • A metabolomics study was conducted to identify urinary biomarkers for breast cancer, using gas chromatography-mass spectrometry (GC-MS) and liquid chromatography-mass spectrometry (LC-MS), analyzed by principal components analysis (PCA) as well as a partial least squares-discriminant analysis (PLS-DA) for a metabolic pattern analysis. To find potential biomarkers, urine samples were collected from before- and after-mastectomy of breast cancer patients and healthy controls. Androgens, corticoids, estrogens, nucleosides, and polyols were quantitatively measured and urinary metabolic profiles were constructed through PCA and PLS-DA. The possible biomarkers were discriminated from quantified targeted metabolites with a metabolic pattern analysis and subsequent screening. We identified two biomarkers for breast cancer in urine, ${\beta}$-cortol and 5-methyl-2-deoxycytidine, which were categorized at significant levels in a student t-test (p-value < 0.05). The concentrations of these metabolites in breast cancer patients significantly increased relative to those of controls and patients after mastectomy. Biomarkers identified in this study were highly related to metabolites causing oxidative DNA damage in the endogenous metabolism. These biomarkers are not only useful for diagnostics and patient stratification but can be mapped on a biochemical chart to identify the corresponding enzyme for target identification via metabolomics.

Evaluation of Combined Quantification of PCA3 and AMACR Gene Expression for Molecular Diagnosis of Prostate Cancer in Moroccan Patients by RT-qPCR

  • Maane, Imane Abdellaoui;El Hadi, Hicham;Qmichou, Zineb;Al Bouzidi, Abderrahmane;Bakri, Youssef;Sefrioui, Hassan;Dakka, Nadia;Moumen, Abdeladim
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.17 no.12
    • /
    • pp.5229-5235
    • /
    • 2016
  • Prostate cancer (PCa) remains one of the most widespread and perplexing of all human malignancies. Assessment of gene expression is thought to have an important impact on cancer diagnosis, prognosis and therapeutic decisions. In this context, we explored combined expression of PCa related target genes AMACR and PCA3 in 126 formalin fixed paraffin embedded prostate tissues (FFPE) from Moroccan patients, using quantitative real time reverse transcription-PCR (RT-qPCR). This quantification required data normalization accomplished using stably expressed reference genes (RGs). A panel of twelve RG was assessed, data being analyzed using GenEx V6 based on geNorm, NormFinder and statistical methods. Accordingly, the hnRNP A1 gene was identified and selected as the most stably expressed RG for reliable and accurate gene expression quantification in prostate tissues. The ratios of both PCA3 and AMACR gene expression relative to that of the hnRNP A1 gene were calculated and the performance of each target gene for PCa diagnosis was evaluated using receiver-operating characteristics. PCA3 and AMACR mRNA quantification based on RT-qPCR may prove useful in PCa diagnosis. Of particular interesting, combining PCA3 and AMACR quantification improved PCa prediction by increasing sensitivity with retention of good specificity.

Cigarette Smoking and Pancreatic Cancer Risk: A Revisit with an Assessment of the Nicotine Dependence Phenotype

  • Nakao, Makoto;Hosono, Satoyo;Ito, Hidemi;Oze, Isao;Watanabe, Miki;Mizuno, Nobumasa;Yatabe, Yasushi;Yamao, Kenji;Niimi, Akio;Tajima, Kazuo;Tanaka, Hideo;Matsuo, Keitaro
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.14 no.7
    • /
    • pp.4409-4413
    • /
    • 2013
  • Background: Cigarette smoking is a well-established risk factor of pancreatic cancer (PC). Although an association between nicotine dependence phenotype, namely time to first cigarette (TTFC) after waking, and the risk of several smoking-related cancers has been reported, an association between TTFC and PC risk has not been reported. We assessed the impact of smoking behavior, particularly TTFC, on PC risk in a Japanese population. Materials and Methods: We conducted a case-control study using 341 PC and 1,705 non-cancer patients who visited Aichi Cancer Center in Nagoya, Japan. Exposure to risk factors, including smoking behavior, was assessed from the results of a self-administered questionnaire. The impact of smoking on PC risk was assessed with multivariate logistic regression analysis adjusted for potential confounders to estimate odds ratios (ORs) and 95% confidence intervals (CIs). Results: Cigarettes per day (CPD) and/or smoking duration were significantly associated with PC risk, consistent with previous studies. For TTFC and PC risk, we found only a suggestive association: compared with a TTFC of more than 60 minutes, ORs were 1.15 (95%CI, 0.65-2.04) for a TTFC of 30-60 minutes and 1.35 (95%CI, 0.85-2.15) for that of 0-30 minutes (p trend=0.139). After adjustment for CPD or smoking duration, no association was observed between TTFC and PC. Conclusions: In this study, we found no statistically significant association between TTFC and PC risk. Further studies concerning TTFC and PC risk are warranted.

Strategies Against Human Papillomavirus Infection and Cervical Cancer

  • Jung Woon-Won;Chun Taehoon;Sul Donggeun;Hwang Kwang Woo;Kang Hyung-Sik;Lee Duck Joo;Han In-Kwon
    • Journal of Microbiology
    • /
    • v.42 no.4
    • /
    • pp.255-266
    • /
    • 2004
  • Papillomaviruses infect a wide variety of animals, including humans. The human papillomavirus (HPV), in particular, is one of the most common causes of sexually transmitted disease. More than 200 types of HPV have been identified by DNA sequence data, and 85 HPV genotypes have been well char­acterized to date. HPV can infect the basal epithelial cells of the skin or inner tissue linings, and are, accordingly, categorized as either cutaneous or mucosal type. HPV is associated with a panoply of clin­ical conditions, ranging from innocuous lesions to cervical cancer. In the early 1980s, studies first reported a link between cervical cancer and genital HPV infection. Genital HPV infections are now rec­ognized to be a major risk factor in at least $95\%$ of cervical cancers. 30 different HPV genotypes have been identified as causative of sexually transmitted diseases, most of which induce lesions in the cervix, vagina, vulva, penis, and anus, as the result of sexual contact. There is also direct evidence demon­strating that at least four of these genotypes are prerequisite factors in cervical cancer. The main aim of this review was to evaluate the current literature regarding the pathovirology, diagnostics, vaccines, therapy, risk groups, and further therapeutic directions for HPV infections. In addition, we reviewed the current status of HPV infections in South Korean women, as evidenced by our data.

Studies on the internal decontamination of radioiodine (Radioiodine의 체내오염(體內汚染)에 대(對)한 긴급처치연구(緊急處置硏究))

  • Chung, In-yong;Kim, Tae-hwan;Chung, Hyun-woo;Chin, Soo-yil;Yun, Taik-koo
    • Korean Journal of Veterinary Research
    • /
    • v.28 no.2
    • /
    • pp.391-396
    • /
    • 1988
  • Appreciable radiation exposures certainly occur in the workers who handle radioiodine in biochemical research, nuclear medicine diagnostics with the development of nuclear industries. But in the case of occurring the nuclear accidents, the early medical treatment of radiation injury should be necessary but little was reported in korea till now. Accordingly, to achieve of the basic data for protective roles and medical treatment of radiation injury, the present studies were carried out to evaluate the decontamination of radioiodine by the administration of the antithyroid drugs. The results observed are summarized as follows: 1. The administration of sodium iodide and potassium iodide results in rapid excretion of radioiodine and reduction of the whole body retention than the saline-only group. 2. Reguarding to thyroid protective effects, sodium iodide, potassium iodide and saline were effected significant in order. 3. In the control(saline) group, if administered with enough fluids, the whole body retention of radioiodine is reduced temporary shifts. But as far as radioprotective effects is concerned, saline was not more in the protective effects than the other groups. In conclusion, in case of nuclear accidents, if being administered sodium iodide and saline as quickly as possible, the radioprotective effects against the radiation hazard might be markedly increased in the internal contamination of radioiodine.

  • PDF

Clinical Risk Factor Analysis for Breast Cancer: 568,000 Subjects Undergoing Breast Cancer Screening in Beijing, 2009

  • Pan, Lei;Han, Li-Li;Tao, Li-Xin;Zhou, Tao;Li, Xia;Gao, Qi;Wu, Li-Juan;Luo, Yan-Xia;Ding, Hui;Guo, Xiu-Hua
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.14 no.9
    • /
    • pp.5325-5329
    • /
    • 2013
  • Objectives: Although there are many reports about the risk of breast cancer, few have reported clinical factors including history of breast-related or other diseases that affect the prevalence of breast cancer. This study explores these risk factors for breast cancer cases reported in Beijing in 2009. Materials and Methods: Data were derived from a Beijing breast cancer screening performed in 2009, of 568,000 women, from 16 districts of Beijing, all aged between 40 and 60 years. In this study, multilevel statistical modeling was used to identify clinical factors that affect the prevalence of breast cancer and to provide more reliable evidence for clinical diagnostics by using screening data. Results and Conclusion: Those women who had organ transplants, compared with those with none, were associated with breast cancer with an odds ratio (OR)=65.352 [95% confidence interval (CI): 8.488-503.165] and those with solid breast mass compared with none had OR=1.384 (95% CI: 1.022-1.873). Malignant tendency was strongly associated with increased risk of breast cancer, OR=207.999(95% CI: 151.950-284.721). The risk of breast cancer increased with age, $OR_1$=2.759 (95% CI: 1.837-4.144, 56-60 vs. 40-45), $OR_2$=2.047 (95% CI: 1.394-3.077, 51-55 vs. 40-45), $OR_3$=1.668 (95% CI: 1.145-2.431). Normal results of B ultrasonic examination show a lower risk among participants, OR= 0.136 (95% CI: 0.085-0.218). Those women with ductal papilloma compared with none were associated with breast cancer, OR=6.524 (95% CI: 1.871-22.746). Therefore, this study suggests that clinical doctors should pay attention to these high-risk factors.

Development of Effective Analytical Signal Models for Functional Microwave Imaging

  • Baang, Sung-Keun;Kim, Jong-Dae;Lee, Yong-Up;Park, Chan-Young
    • Journal of Biomedical Engineering Research
    • /
    • v.28 no.4
    • /
    • pp.471-476
    • /
    • 2007
  • Various active microwave imaging techniques have been developed for cancer detection for past several decades. Both the microwave tomography and the UWB radar techniques, constituting functional microwave imaging systems, use the electrical property contrast between normal tissues and malignancies to detect the latter in an early development stage. Even though promising simulation results have been reported, the understanding of the functional microwave imaging diagnostics has been relied heavily on the complicated numerical results. We present a computationally efficient and physically instructive analytical electromagnetic wave channel models developed for functional microwave imaging system in order to detect especially the breast tumors as early as possible. The channel model covers the propagation factors that have been examined in the previous 2-D models, such as the radial spreading, path loss, partial reflection and transmission of the backscattered electromagnetic waves from the tumor cell. The effects of the system noise and the noise from the inhomogeneity of the tissue to the reconstruction algorithm are modeled as well. The characteristics of the reconstructed images of the tumor using the proposed model are compared with those from the confocal microwave imaging.

Comparison of Two Methods to Extract DNA from Formalin-Fixed, Paraffin-Embedded Tissues and their Impact on EGFR Mutation Detection in Non-small Cell Lung Carcinoma

  • Hu, Yu-Chang;Zhang, Qian;Huang, Yan-Hua;Liu, Yu-Fei;Chen, Hong-Lei
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.15 no.6
    • /
    • pp.2733-2737
    • /
    • 2014
  • Objective: Molecular pathology tests are often carried for clinicopathological diagnosis and pathologists have established large collections of formalin-fixed, paraffin-embedded tissue (FFPE) banks. However, extraction of DNA from FFPE is a laborious and challenging for researchers in clinical laboratories. The aim of this study was to compare two widely used DNA extraction methods: using a QIAamp DNA FFPE kit from Qiagen and a Cobas Sample Preparation Kit from Roche, and evaluated the effect of the DNA quality on molecular diagnostics. Methods: DNA from FFPE non-small cell lung carcinoma tissues including biopsy and surgical specimens was extracted with both QIAamp DNA FFPE and Cobas Sample Preparation Kits and EGFR mutations of non-small cell lung carcinomas were detected by real-time quantitative PCR using the extracted DNA. Results and Conclusion: Our results showed that DNA extracted by QIAamp and Cobas methods were both suitable to detect downstream EGFR mutation in surgical specimens. Howover, Cobas method could yield more DNA from biopsy specimens, and gain much better EGFR mutation results.

A Brief Review of Research and Development, Market Trends for Ultra-Small and High-Sensitivity Nano Biosensors (초소형 고감도 나노 바이오 센서의 연구개발 및 시장 동향)

  • Hyeong Gi Park;Jun-Won Kook;Kwon-Young Choi;Jae-Hyun Lee
    • Journal of the Korean Institute of Electrical and Electronic Material Engineers
    • /
    • v.36 no.6
    • /
    • pp.556-562
    • /
    • 2023
  • This paper presents the development and market trends of nano biosensors. These biosensors must possess high sensitivity and selectivity to effectively detect diseases. Presently, many research groups are focusing on the field-effect transistor aspect of nano biosensors, which can identify diseases such as Down syndrome, bladder cancer, breast cancer, and numerous other cancers, utilizing graphene and transition metal dichalcogenide materials. In the case of in-vitro diagnostics, the use of nano biosensors has been rapidly growing since the onset of the COVID-19 pandemic. This paper also discusses market trends and the outlook for both national and international enterprises engaged in the nano biosensor field. Nano biosensors are expected to play a beneficial and significant role soon, contributing to the early diagnosis of diseases and subsequently improving patient outcomes.