Analysis of circulating tumor DNA to monitor metastatic breast cancer.

@article{Dawson2013AnalysisOC,
  title={Analysis of circulating tumor DNA to monitor metastatic breast cancer.},
  author={Sarah-Jane Dawson and Dana Wai Yi Tsui and Muhammed Murtaza and Heather Biggs and Oscar M. Rueda and Suet-Feung Chin and Mark J. Dunning and Davina Gale and Tim Forshew and Betania Mahler-Araujo and Sabrina Rajan and Sean J. Humphray and Jennifer Becq and David John Halsall and Matthew G. Wallis and D. R. Bentley and Carlos Caldas and Nitzan Rosenfeld},
  journal={The New England journal of medicine},
  year={2013},
  volume={368 13},
  pages={
          1199-209
        }
}
BACKGROUND The management of metastatic breast cancer requires monitoring of the tumor burden to determine the response to treatment, and improved biomarkers are needed. Biomarkers such as cancer antigen 15-3 (CA 15-3) and circulating tumor cells have been widely studied. However, circulating cell-free DNA carrying tumor-specific alterations (circulating tumor DNA) has not been extensively investigated or compared with other circulating biomarkers in breast cancer. METHODS We compared the… 

Figures from this paper

The dynamic range of circulating tumor DNA in metastatic breast cancer
TLDR
The dynamic range of cTDNA varies substantially in patients with metastatic breast cancer, which has important implications for the use of ctDNA as a predictive and prognostic biomarker.
Circulating tumor DNA to monitor metastatic breast cancer.
TLDR
It is proposed that circulating tumor DNA provides a complementary method in the assessment of patients with detectable mutations and should be more appropriately used to select and monitor molecularly targeted therapies.
Circulating Tumor DNA Analysis for Liver Cancers and Its Usefulness as a Liquid Biopsy
Circulating tumor DNA shows variable clonal response of breast cancer during neoadjuvant chemotherapy
TLDR
Target ultra-deep sequencing of plasma DNAs, matched germline DNAs and tumor DNAs from locally advanced BC patients are performed and it is suggested that ctDNA could be the earliest predictor of NAC response.
Circulating DNA as biomarker in breast cancer
TLDR
The present review discussed technical aspects and clinical relevance of the analyses of circulating plasma/serum DNA in patients with breast cancer.
Evaluation of circulating tumor DNA as a biomarker in pancreatic cancer with liver metastasis
TLDR
The use of circulating tumor DNA as an independent prognostic marker for advanced pancreatic cancer is supported and significantly correlated with a higher number of liver metastases, the presence of lung and/or peritoneal metastase, tumor burden, and higher carbohydrate antigen 19–9 levels.
Role of circulating tumor DNA and circulating tumor cells in breast cancer: History and updates
TLDR
The authors explore the multiple uses of circulating tumor DNA and circulating tumor cells in breast cancer as the field of liquid biopsies expands.
DETECTION OF CIRCULATING TUMOR DNA IN EARLY AND LATE STAGE HUMAN MALIGNANCIES
TLDR
Digital PCR-based technologies used to evaluate the ability of circulating tumor DNA (ctDNA) to detect tumors in 640 patients with various cancer types suggest that ctDNA is a sensitive, specific and robust biomarker that can be used for a variety of clinical and research purposes in patients with several multiple different types of cancer.
Clinical utility of circulating tumor DNA as a response and follow-up marker in cancer therapy
TLDR
It is concluded that the use of plasma-derived ctDNA is a promising tool for treatment decision-making based on predictive testing, detection of resistance mechanisms, and monitoring tumor response.
Circulating tumor DNA as a prognostic marker in high-risk endometrial cancer
TLDR
Personalized ctDNA detection was effective and stable for high-risk EC and CtDNA tracking in post-operative plasma is valuable for predicting tumor recurrence.
...
...

References

SHOWING 1-10 OF 49 REFERENCES
Genomic analysis of circulating cell-free DNA infers breast cancer dormancy.
TLDR
The potential of SNP/CNV analysis of cfDNA to distinguish between patients with breast cancer and healthy controls during routine follow-up is demonstrated, and specific CNVs were detected in cfDNA, mirroring the primary tumor, up to 12 yr after diagnosis despite no other evidence of disease.
Circulating tumor cells, disease progression, and survival in metastatic breast cancer.
TLDR
The number of circulating tumor cells before treatment is an independent predictor of progression-free survival and overall survival in patients with metastatic breast cancer.
Detection of Tumor PIK3CA Status in Metastatic Breast Cancer Using Peripheral Blood
TLDR
Analysis of plasma-derived ctDNA for the detection of PIK3CA mutations in patients with metastatic breast cancer is feasible and the results suggest that Pik3CA mutational status can change upon disease recurrence, emphasizing the importance of reassessing PIK 3CA status on contemporary (not archival) biospecimens.
High independent prognostic and predictive value of circulating tumor cells compared with serum tumor markers in a large prospective trial in first-line chemotherapy for metastatic breast cancer patients.
  • J. Pierga, D. Hajage, F. Bidard
  • Medicine
    Annals of oncology : official journal of the European Society for Medical Oncology
  • 2012
TLDR
This is the largest prospective series validating the prognostic value of CTC independently from serum tumor marker, and Elevated CTCs before C2 are an early predictive marker of poor PFS and OS, which could be used to monitor treatment benefit.
Cancer genome scanning in plasma: detection of tumor-associated copy number aberrations, single-nucleotide variants, and tumoral heterogeneity by massively parallel sequencing.
TLDR
This study explored the use of shotgun massively parallel sequencing of plasma DNA from cancer patients to scan a cancer genome noninvasively and showed that plasma DNA sequencing is a valuable approach for studying tumoral heterogeneity.
Characterization of metastatic breast cancer patients with nondetectable circulating tumor cells
TLDR
It was shown that some important metastatic disease characteristics are predictive of undetectable CTC status in MBC and hormone receptors, number of metastatic sites and lines of therapy were independent prognostic factors for OS in patients without detectable CTC.
Noninvasive Identification and Monitoring of Cancer Mutations by Targeted Deep Sequencing of Plasma DNA
TLDR
Levels of mutant alleles reflected the clinical course of the disease and its treatment—for example, stabilized disease was associated with low allelic frequency, whereas patients at relapse exhibited a rise in frequency, and TAm-Seq will need to achieve a more sensitive detection limit to identify mutations in the plasma of patients with less advanced cancers.
Detecting tumor-related alterations in plasma or serum DNA of patients diagnosed with breast cancer.
  • X. Chen, H. Bonnefoi, P. Anker
  • Medicine, Biology
    Clinical cancer research : an official journal of the American Association for Cancer Research
  • 1999
TLDR
The fact that small tumors (T1) of histoprognostic grade 1 or in situ carcinomas could present DNA alterations in the plasma/serum at an early stage, allied to the widely increased range of available microsatellite markers, suggests that plasma or serum DNA may become a useful diagnostic tool for early and potentially curable breast cancer.
Quantifying EGFR alterations in the lung cancer genome with nanofluidic digital PCR arrays.
TLDR
The digital array detected and quantified rare gefitinib/erlotinib-sensitizing EGFR mutations that were present in formalin-fixed, paraffin-embedded samples of early-stage resectable lung tumors without an associated increase in gene copy number.
...
...