Levels of plasma circulating cell free nuclear and mitochondrial DNA as potential biomarkers for breast tumors

Kohler, Corina; Radpour, Ramin; Barekati, Zeinab; Asadollahi, Reza; Bitzer, Johannes; Wight, Edward; Bürki, Nicole; Diesch, Claude; Holzgreve, Wolfgang; Zhong, Xiao Yan

doi:10.1186/1476-4598-8-105

Cited by 201 publications

(150 citation statements)

References 32 publications

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“…This may be either from nuclear or from mitochondrial origin. Increased levels have been detectable in several cancer types, and an association between nuclear cfDNA levels and malignancy as well as tumor size has been described (Catarino et al 2008, Kohler et al 2009). Others report the possibility to screen for PIK3CA mutations in cfDNA (Board et al 2010).…”

Section: T Weigel and M Dowsett: Biomarkers In Breast Cancermentioning

confidence: 99%

Current and emerging biomarkers in breast cancer: prognosis and prediction

Weigel¹,

Dowsett²

2010

Endocrine-Related Cancer

422

296

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Breast cancer treatment has experienced several changes in the past decades due to the discovery of specific prognostic and predictive biomarkers that enable the application of more individualized therapies to different molecular subgroups. These subgroups show specific differences regarding biological clinical behavior. In addition to the classical clinical prognostic factors of breast cancer, established molecular biomarkers such as estrogen receptor and progesterone receptor have played a significant role in the selection of patients benefiting from endocrine therapy for many years. More recently, the human epidermal growth factor receptor 2 (HER2) has been validated to be not only a prognostic factor, but also a predictor of response to HER2 targeting therapy. The shift toward an earlier diagnosis of breast cancer due to improved imaging methods and screening programs highlights the need for new factors and combinations of biomarkers to quantify the residual risk of patients and to indicate the potential value of additional treatment strategies. The marker of proliferation Ki67 has recently emerged as an important marker due to several applications in neoadjuvant therapy in addition to its moderate prognostic value. With the introduction of high-throughput technologies, numerous multigene signatures have been identified that aim to outperform traditional markers: current prospective clinical trials are seeking evidence for their definitive role in breast cancer. There exist many more factors and approaches that have the potential to become relevant in the near future including the detection of single disseminating and circulating tumor cells in blood and bone marrow as well as of circulating cell-free DNA and microRNA. Careful randomized prospective testing and comparison with existing established factors will be required to select those emerging markers that offer substantial cost-effective benefit and thereby justify their routine use for breast cancer therapy decision-making.

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Section: T Weigel and M Dowsett: Biomarkers In Breast Cancermentioning

confidence: 99%

Current and emerging biomarkers in breast cancer: prognosis and prediction

Weigel¹,

Dowsett²

2010

Endocrine-Related Cancer

422

296

View full text Add to dashboard Cite

show abstract

“…These mutations can lead to disorders in these processes and cell energy functions (7,11,17). Therefore, the mutations identified in the D-loop region may affect the mitochondrial electron transport chain, which is responsible for release of reactive oxygen species (ROS).…”

Section: Introductionmentioning

confidence: 99%

Mitochondrial D-loop mutations can be detected in sporadic malignant tumours in dogs

Ślaska

Surdyka

Brodzki³

et al. 2014

Bulletin of the Veterinary Institute in Pulawy

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The aim of this study was to identify mutations in the D-loop region of mtDNA in head, neck, and limb tumours in dogs, and determination of their relationship with the process of neoplastic transformation. Blood and tumour tissue samples from 19 dogs with diagnosed sporadic malignant tumours were analysed. DNA extraction, amplification, and sequencing of the mtDNA D-loop, and bioinformatic analyses were performed. Five mutations and 19 polymorphisms were observed in 68.42% of all tumours. Polymorphic variants were noted in 42.86% of the head and neck tumours and in 58.33% of the limb tumours. Mutations were observed in 21.05% of dogs. The mutations were found in 28.57% of the head and neck tumours and in 16.66% of the limb tumours. The mutations were identified in 50% of the studied epithelial cancers. In the mesenchymal tumours, no mutations in the D-loop region were observed. Mitochondrial haplotype A17 was found in over 40% cases of limb tumours. No association between the age, breed, sex, type of tumour, and detected polymorphic variants were observed. Different mutational changes in the D-loop sequences of mtDNA identified in the blood and tumour tissues may indicate a relationship between the type of tumour and individual changes in the D-loop nucleotide sequences of mtDNA.

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“…The bone marrow sample from patient NBL11, however was also found to be positive using standard cytological analyses, suggesting that at least in this sample the detected tumor DNA originated from the infiltrating tumor cells. Although the role and origin of circulating free DNA remain somewhat unclear (24), several publications report that the amount of tumor DNA in the blood reflects the size of the tumor and/or the risk of relapse in several types of cancer such as breast cancer (24,25), colon cancer (26) and neuroblastoma (27,28). Some authors also stress the prognostic importance of CTCs and bone marrow micrometastasis in NB (27,29).…”

Section: Discussionmentioning

confidence: 99%

MYCN amplicon junctions as tumor-specific targets for minimal residual disease detection in neuroblastoma

Kryh

Abrahamsson²,

Jegerås³

et al. 2011

Int J Oncol

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Abstract.The MYCN gene is frequently amplified in unfavorable neuroblastoma tumors. Therefore, this study aimed at characterizing the novel junctions connecting the amplified DNA segments (amplicons) and obtaining tumor-specific PCR fragments for use in detecting minimal residual disease (MRD). High-density SNP arrays were used to map the end-points of the MYCN amplicons in a subset of neuroblastoma tumors. Primers were designed to give rise to a tumor-specific PCR product and were examined for MRD in the blood and bone marrow using quantitative PCR. Tumor-specific junction fragments were detected in all cases, confirming a head-to-tail tandem orientation of the amplicons and revealing microhomology at the amplicon junctions, thus suggesting a rolling circle caused by microhomology-mediated break-induced replication (MMBIR) as a possible mechanism initiating the MYCN amplification. We also evaluated the use of these junctions as tumor-specific targets for detecting MRD and observed that tumor DNA could be readily detected and quantified in either blood or bone marrow at a sensitivity of 1/10 6 tumor/control DNA. This study provides new information on the mechanisms of oncogene amplification and envisages means of rapidly obtaining highly sensitive PCR-based tools for tumor/ patient-specific monitoring of treatment response and the early detection of relapse in patients with neuroblastoma.

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Levels of plasma circulating cell free nuclear and mitochondrial DNA as potential biomarkers for breast tumors

Cited by 201 publications

References 32 publications

Current and emerging biomarkers in breast cancer: prognosis and prediction

Current and emerging biomarkers in breast cancer: prognosis and prediction

Mitochondrial D-loop mutations can be detected in sporadic malignant tumours in dogs

MYCN amplicon junctions as tumor-specific targets for minimal residual disease detection in neuroblastoma

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