Identification of Somatic Mutations in Thirty-year-old Serum Cell-free DNA From Patients With Breast Cancer: A Feasibility Study.

Ritter, Mathilde; Paradiso, Viola; Widmer, Patrik; Garofoli, Andrea; Quagliata, Luca; Eppenberger-Castori, Serenella; Soysal, Savas D; Muenst, Simone; Ng, Charlotte K Y; Piscuoglio, Salvatore; Weber, Walter; Weber, Walter P (2020). Identification of Somatic Mutations in Thirty-year-old Serum Cell-free DNA From Patients With Breast Cancer: A Feasibility Study. Clinical breast cancer, 20(5), 413-421.e1. Elsevier 10.1016/j.clbc.2020.04.005

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INTRODUCTION

The aim of this study was to assess the feasibility of cell-free DNA (cfDNA) extraction and circulating tumor DNA sequencing in 30-year-old serum samples.

MATERIALS AND METHODS

We evaluated serum samples from 52 patients with breast cancer, which were collected between 1983 and 1991, with correlating clinicopathologic data. cfDNA was extracted by using the QIAamp Circulating Nucleic Acid Extraction Kit (Qiagen). Of these 52 cfDNA samples, 10 were randomly selected and sequenced with the Oncomine Breast cfDNA Assay (A31183). In a second step, high-depth targeted sequencing of 15 additional cfDNA samples was performed using a custom Ampliseq Ion Torrent panel targeting breast cancer-related genes.

RESULTS

cfDNA extraction was successful in 52 (100%) of 52 patients with a total concentration of 0.2 to 54 ng/uL. A total of 24 cancer-specific mutations were found in 22 (88%) of the 25 samples undergoing sequencing. Of the 52 patients, 32 (62%) had died from breast cancer after a median follow-up of 7.9 years (interquartile range, 3.7-15.5 years).

CONCLUSION

The present study shows that current next generation sequencing technology is sufficiently robust and specific to analyze 30-year-old serum. Therefore, longitudinal studies can be designed with storage of serum samples over many years, thereby obviating the need for timely and continuous cfDNA extraction and sequencing. The samples can be pooled and processed at once with the most modern technology available at the end of the study, when accumulation of events allows correlation of clinical outcomes with adequate power.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR)

UniBE Contributor:

Ng, Kiu Yan Charlotte

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1526-8209

Publisher:

Elsevier

Language:

English

Submitter:

Marla Rittiner

Date Deposited:

29 Dec 2020 09:24

Last Modified:

13 Mar 2021 11:06

Publisher DOI:

10.1016/j.clbc.2020.04.005

PubMed ID:

32650988

Uncontrolled Keywords:

Breast cancer Circulating tumor DNA Serum Somatic mutations

BORIS DOI:

10.48350/150219

URI:

https://boris.unibe.ch/id/eprint/150219

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