&lt;p&gt;Circulating Cell-Free DNA or Circulating Tumor DNA in the Management of Ovarian and Endometrial Cancer&lt;/p&gt;

Chen, Qian; Zhang, Zi-Han; Wang, Shu; Lang, Jing-He

doi:10.2147/ott.s227156

Cited by 54 publications

(34 citation statements)

References 120 publications

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“…Endometrial cancer is the most common malignant cancer of women's reproductive tract [117]. It can be diagnosed and treated in early stages due to typical symptoms [125]. Histopathology examination is a gold standard in the diagnosis of endometrial cancer, but due to its invasive nature, it cannot serve as a clinical monitoring method [125].…”

Section: Claudins In Endometrial Cancermentioning

confidence: 99%

Claudins: New Players in Human Fertility and Reproductive System Cancers

Kozieł

Kowalska

Piastowska-Ciesielska

2020

Cancers

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Claudins are major integral proteins of tight junctions (TJs), the apical cell-cell adhesions that enable maintaining polarity of epithelial cells, their differentiation, and cell signaling. A number of studies have indicated that claudins might play a crucial role in both physiology and pathogenesis. Their tissue-specific expression was originally linked to the development of different types of cancer and triggered a hope to use them as diagnostic or prognostic markers. However, it seems that their expression is more complex than that, and undoubtedly, claudins participate in one of the most important molecular events in cells. This review summarizes the recent research evaluating the role of claudins in fertility and the most common endocrine-dependent cancers in the reproductive system and highlights the crucial role of claudins both in human fertility and the most common cancers.

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Section: Claudins In Endometrial Cancermentioning

confidence: 99%

Claudins: New Players in Human Fertility and Reproductive System Cancers

Kozieł

Kowalska

Piastowska-Ciesielska

2020

Cancers

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“…Furthermore, genetic testing of cell-free DNA (e.g., fetal and tumor) allows for early detection of disease, tracking recurrence in cancers, and even non-invasive prenatal genetic testing where mutations of the fetus are detected in a pregnant mother's blood [8,9]. Recent studies have demonstrated that screening for mutations in circulating tumor or cell-free DNA can allow for the early detection of recurring cancers [10][11][12][13][14][15][16][17]. Therefore, rapid and precise assessment of patient or cancer-specific mutational AAFs could provide important clinical benefits for families [10,11,13,17].…”

Section: Introductionmentioning

confidence: 99%

MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations

et al. 2021

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Background Mosaic mutations contribute to numerous human disorders. As such, the identification and precise quantification of mosaic mutations is essential for a wide range of research applications, clinical diagnoses, and early detection of cancers. Currently, the low-throughput nature of single allele assays (e.g., allele-specific ddPCR) commonly used for genotyping known mutations at very low alternate allelic fractions (AAFs) have limited the integration of low-level mosaic analyses into clinical and research applications. The growing importance of mosaic mutations requires a more rapid, low-cost solution for mutation detection and validation. Methods To overcome these limitations, we developed Multiple Independent Primer PCR Sequencing (MIPP-Seq) which combines the power of ultra-deep sequencing and truly independent assays. The accuracy of MIPP-seq to quantifiable detect and measure extremely low allelic fractions was assessed using a combination of SNVs, insertions, and deletions at known allelic fractions in blood and brain derived DNA samples. Results The Independent amplicon analyses of MIPP-Seq markedly reduce the impact of allelic dropout, amplification bias, PCR-induced, and sequencing artifacts. Using low DNA inputs of either 25 ng or 50 ng of DNA, MIPP-Seq provides sensitive and quantitative assessments of AAFs as low as 0.025% for SNVs, insertion, and deletions. Conclusions MIPP-Seq provides an ultra-sensitive, low-cost approach for detecting and validating known and novel mutations in a highly scalable system with broad utility spanning both research and clinical diagnostic testing applications. The scalability of MIPP-Seq allows for multiplexing mutations and samples, which dramatically reduce costs of variant validation when compared to methods like ddPCR. By leveraging the power of individual analyses of multiple unique and independent reactions, MIPP-Seq can validate and precisely quantitate extremely low AAFs across multiple tissues and mutational categories including both indels and SNVs. Furthermore, using Illumina sequencing technology, MIPP-seq provides a robust method for accurate detection of novel mutations at an extremely low AAF.

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“…However, ctDNA proportion in total cell-free DNA varies due to the clinical-pathologic features of tumor and tumor microenvironment. Nevertheless, the level of ctDNA in standard blood is relatively low [ 105 ] as can be illustrated by plasma that constitutes <0.01–10% of total circulating cell-free DNA [ 103 ].…”

Section: Blood Samples As Currently Most Frequently Used Liquid Bimentioning

confidence: 99%

Liquid Biopsy is Instrumental for 3PM Dimensional Solutions in Cancer Management

Líšková

Samec

Koklesová

et al. 2020

JCM

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One in every four deaths is due to cancer in Europe. In view of its increasing incidence, cancer became the leading cause of death and disease burden in Denmark, France, the Netherlands, and the UK. Without essential improvements in cancer prevention, an additional 775,000 cases of annual incidence have been prognosed until 2040. Between 1995 and 2018, the direct costs of cancer doubled from EUR 52 billion to EUR 103 billion in Europe, and per capita health spending on cancer increased by 86% from EUR 105 to EUR 195 in general, whereby Austria, Germany, Switzerland, Benelux, and France spend the most on cancer care compared to other European countries. In view of the consequent severe socio-economic burden on society, the paradigm change from a reactive to a predictive, preventive, and personalized medical approach in the overall cancer management is essential. Concepts of predictive, preventive, and personalized medicine (3PM) demonstrate a great potential to revise the above presented trends and to implement cost-effective healthcare that benefits the patient and society as a whole. At any stage, application of early and predictive diagnostics, targeted prevention, and personalization of medical services are basic pillars making 3PM particularly attractive for the patients as well as ethical and cost-effective healthcare. Optimal 3PM approach requires novel instruments such as well-designed liquid biopsy application. This review article highlights current achievements and details liquid biopsy approaches specifically in cancer management. 3PM-relevant expert recommendations are provided.

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<p>Circulating Cell-Free DNA or Circulating Tumor DNA in the Management of Ovarian and Endometrial Cancer</p>

Cited by 54 publications

References 120 publications

Claudins: New Players in Human Fertility and Reproductive System Cancers

Claudins: New Players in Human Fertility and Reproductive System Cancers

MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations

Liquid Biopsy is Instrumental for 3PM Dimensional Solutions in Cancer Management

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