Delineating Chromosomal Breakpoints in Radiation-Induced Papillary Thyroid Cancer

Ito, Yuko; Kwan, Johnson; Smida, Jan; Weier, Jingly F.; Hieber, Ludwig; Lu, Chunmei; Lehmann, Lars; Wang, Mei; Kassabian, Haig J.; Zeng, Hui; O’Brien, Benjamin

doi:10.3390/genes2030397

Cited by 5 publications

(7 citation statements)

References 62 publications

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“…The same probe (prepared from BAC clone RP11-168p20) was hybridized to PTC cell line S48TK18, clone A6 (Zitzelsberger et al 1999; Weier et al 2006; Weier et al 2011). The majority of the cells showed four signals (Fig.…”

Section: Resultsmentioning

confidence: 99%

“…The SKY analysis was performed as described previously (Garini et al 1996; Schroeck et al 1996; Fung et al 1998; Zitzelsberger et al 1999; Fung et al 2000; Zitzelsberger et al 2001; Zitzelsberger et al 2002; Weier et al 2011). Briefly, acetic acid:methanol (1:3, vol.:vol.)…”

Section: Methodsmentioning

confidence: 99%

“…Images were collected using a CCD camera (VHS Vosskuehler; Osnabrueck, Germany) and processed using Adobe Photoshop software (Adobe Inc.; Mountain View, CA) (Weier et al 2011). …”

Section: Methodsmentioning

confidence: 99%

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Bioinformatics Tools Allow Targeted Selection of Chromosome Enumeration Probes and Aneuploidy Detection

O’Brien

Zeng

Polyzos

et al. 2012

J Histochem Cytochem.

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Accurate determination of cellular chromosome complements is a highly relevant issue beyond prenatal/pre-implantation genetic analyses or stem cell research, because aneusomy may be an important mechanism by which organisms control the rate of fetal cellular proliferation and the fate of regenerating tissues. Typically, small amounts of individual cells or nuclei are assayed by in situ hybridization using chromosome-specific DNA probes. Careful probe selection is fundamental to successful hybridization experiments. Numerous DNA probes for chromosome enumeration studies are commercially available, but their use in multiplexed hybridization assays is hampered due to differing probe-specific hybridization conditions or a lack of a sufficiently large number of different reporter molecules. Progress in the International Human Genome Project has equipped the scientific community with a wealth of unique resources, among them recombinant DNA libraries, physical maps, and data-mining tools. Here, we demonstrate how bioinformatics tools can become an integral part of simple, yet powerful approaches to devise diagnostic strategies for detection of aneuploidy in interphase cells. Our strategy involving initial in silico optimization steps offers remarkable savings in time and costs during probe generation, while at the same time significantly increasing the assay’s specificity, sensitivity, and reproducibility.

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Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Bioinformatics Tools Allow Targeted Selection of Chromosome Enumeration Probes and Aneuploidy Detection

O’Brien

Zeng

Polyzos

et al. 2012

J Histochem Cytochem.

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“…During the last decade, methodology development has been progressing toward a full karyotype analysis 34 ; however, adjusting probe sets, that is, probe target and fluorochrome label, rapidly to particular needs in the laboratory is still quite difficult. Using BAC clones as a source of probe DNA for FISH is cheap and effective 28,35,36 and, in contrast, allows the analysis of the whole genome 37,38 for cytogenetic diagnoses. However, this metaphase-specific approach cannot be used for analysis of single cells per se, as they are likely to be in an interphase stage.…”

Section: Discussionmentioning

confidence: 99%

Full Karyotype Interphase Cell Analysis

Baumgartner

Hartshorne

Polyzos

et al. 2018

J Histochem Cytochem.

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Aneuploidy seems to play not only a decisive role in embryonal development but also in tumorigenesis where chromosomal and genomic instability reflect a universal feature of malignant tumors. The cost of whole genome sequencing has fallen significantly, but it is still prohibitive for many institutions and clinical settings. No applied, cost-effective, and efficient technique has been introduced yet aiming at research to assess the ploidy status of all 24 different human chromosomes in interphases simultaneously, especially in single cells. Here, we present the selection of human probe DNA and a technique using multistep fluorescence in situ hybridization (FISH) employing four sets of six labeled FISH probes able to delineate all 24 human chromosomes in interphase cells. This full karyotype analysis approach will provide additional diagnostic potential for single cell analysis. The use of spectral imaging (SIm) has enabled the use of up to eight different fluorochrome labels simultaneously. Thus, scoring can be easily assessed by visual inspection, because SIm permits computer-assigned and distinguishable pseudo-colors to each probe during image processing. This enables full karyotype analysis by FISH of single-cell interphase nuclei.

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“…İyonize radyasyon ekstrinsik kaynaklı mutajenlerin başında gelir [33]. Ancak iyonize radyasyon maruziyeti olan her olguda hücre transformasyonu olmamakta yani kanser gelişmemektedir.…”

Section: B14 Ret/ptc Proto-onkogeniunclassified

Tiroid kanserinde moleküler etyolojik faktörler

Özdemir¹,

Özdemir²

2014

Cumhuriyet Med J

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Tiroid kanseri en sık görülen endokrin kanserdir ve dünya çapında sıklığı giderek artmaktadır. Son zamanlardaki moleküler teknolojik çalışmalar, tiroid kanser tanı ve tedavisinin doğru yapılabilmesi için etyolojik parameterlere yoğunlaşmış durumdadır. Şimdiye kadar bu konuda üzerinde çalışılmış birçok moleküler ve immünohistokimyasal parametre bildirilmiştir. Son literatür bilgileri, tiroid kanseri ile genetik parametreler arasında güçlü bir ilişkinin olduğunu ortaya koymuştur. Normal tiroid dokusunda kanser tetiklenmesi ve ilerlemesi, nokta mutasyonlar, translokasyonlar, kromozomlararası yeniden düzenlemeler (rearrangements), aktif proto-onkogen ve inaktif tümör baskılayıcı gen şeklinde meydana gelen epigenetik alterasyonlar gibi çoklu genetik ve epigenetik değişikliklerle gerçekleşmektedir. Yine son rapor edilen literatür bilgileri, proto-onkogenlerin fonksiyon kazanarak ve tümör süpresör genlerin ise fonsiyon kaybederek tiroid kanserlerinin tetiklenmesinde ve/veya ilerlemesinde görev yapmaları bu gen ailelerinin karsinogenezisde antagonistik bir etkiye sahip olduklarını göstermektedir. Tiroid doku tümörleri ve nodüllerinin, moleküler genetik belirteçler açısından (somatik, germ-line) kimliklendirilmesinin malign-benign doku ayırt edilmesinde, kesin tanı ve etkin tedaviçin hayati öneme sahiptir. Her bir kanser olgusunda özgün moleküler genetik değişikliklerin neler olduğu öncelikle tespit edilmelidir. Ancak bu durumda kanser subtiplemesi doğru yapılabilir ve bu doğrultuda hastanın doğru ve etkin tedavi alması sağlanabilir. İlgili nodül ve tümör dokusunun neden kanserleştiğinin ipuçlarını yine içinde barındırmaktadır, bu moleküler etyolojik sebeplerin doğru tespiti tiroid kanserlerinin tedavisi için yeni ve etkin tedavi stratejilerinin geliştirilmesine olanak sağlar. Bu derleme makalesinde son literatür bilgileri ışığında tiroid kanserlerinde doğrudan ve/veya aracılık eden moleküler genetik paremetreler ve etki mekanizmaları olabildiğince geniş bir spektrumda ele alınmıştır. Anahtar sözcükler: Tiroid kanseri, tanı, prognoz, moleküler belirteçler AbstractThyroid cancer is a common endocrine malignancy its prevelance is increasing worldwide. Currently, the application of molecular technologies has focused on etiological parameters for the accurate diagnosis and therapy of thyroid cancer. Until now in this issue many molecular and immunohistochemical parameters have been reported. Recent literature show that strong association between genetic parameters and thyroid cancer. Initiation and progression of thyroid cancers arise as the consequence of multiple genetic and epigenetic alterations such as; structural point mutations, chromosomal rearrangements and epigenetic events that activate proto-oncogenes and inactivate tumor suppressor genes. There are lots of various tumor-suppressor genes are epigenetically silenced in thyroid cancers. Gain-of-function for proto-oncogenes and loss-offunction for tumour supressor genes have a crucial role in the initiation and/or progression of the thyroid carcinogenesis. The deter...

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Delineating Chromosomal Breakpoints in Radiation-Induced Papillary Thyroid Cancer

Cited by 5 publications

References 62 publications

Bioinformatics Tools Allow Targeted Selection of Chromosome Enumeration Probes and Aneuploidy Detection

Bioinformatics Tools Allow Targeted Selection of Chromosome Enumeration Probes and Aneuploidy Detection

Full Karyotype Interphase Cell Analysis

Tiroid kanserinde moleküler etyolojik faktörler

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