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Comparison of sequencing assays for sensitive detection of circulating tumour DNA in stage IA-IV breast cancer

This study compared different assays for the detection of circulating tumour DNA (ctDNA) in serial plasma from stage IA-IV breast cancer patients, targeting structural variants (SVs), single nucleotide variants (SNVs) and/or somatic copy-number aberrations (SCNAs). SV-multiplex PCR, SNV-/SV-hybrid capture, and different depths of whole-genome sequencing (WGS) were used to evaluate ctDNA levels, demonstrating concordant results. SNV-hybrid capture targeting 1,347-7,491 mutations was the most sensitive assay, detecting 67% (36/54) of samples down to an allele fraction (AF) of 0.00024%. SV-multiplex PCR, targeting 21-47 mutations, detected 63% (34/54) of samples down to 0.00047% AF and has potential as a clinical assay.

Request Access

Policy for access to data included in the following publication; Comparison of multiplex PCR, hybrid capture and whole-genome sequencing assays for sensitive detection of circulating tumour DNA in stage IA-IV breast cancer

~~~ Definitions: Confidential Information: means any information provided by the Data Provider relating to the Data Data: The managed access dataset(s) to which the User Institution has requested access, as detailed in Schedule B. Data Provider: THE CHANCELLOR, MASTERS AND SCHOLARS OF THE UNIVERSITY OF CAMBRIDGE of The Old Schools, Trinity Lane, Cambridge CB2 1TN, United Kingdom and the Cambridge University Hospitals NHS Foundation Trust of Addenbrooke’s Hospital, Cambridge, CB2 0QQ; represented by staff of the Rosenfeld Group at the Cancer Research UK Cambridge Institute, and contactable by email at Rosenfeld.LabAdmin@cruk.cam.ac.uk or future email as updated; or future representatives as indicated in Data Access Committee(s) for the dataset(s) defined in Schedule B. Data Subject: means an individual who participated in research studies from whom the Data was derived. External Collaborator: A collaborator of the User, working for an institution other than the User Institution. Personal Data: means information and/or data about one or more living person who is the subject of personal data and who can be identified from that information, as provided under the General Data Protection Regulation (EU) 2016/679 (as amended from time to time), including but not limited to surname, initials, date of birth, address and postcodes, national insurance number, hospital number or NHS number. Project: The research project for which the User Institution has requested access to these Data, as defined in Schedule B. Publications: Includes, without limitation, articles published in print journals, electronic journals, reviews, books, posters and other written and verbal presentations of research. User: The principal investigator for the Project. User Institution(s): The Institution that has requested access to the Data. User Institution is referred to within this Agreement as “You” (and “Your” shall be construed accordingly). Data Provider will provide access to Data to the User Institution under the following Terms and Conditions: 1. You agree to preserve, at all times, the confidentiality and privacy of information and Data pertaining to Data Subjects. In particular, you undertake not to use, or attempt to use the Data to compromise or otherwise breach or infringe the confidentiality and privacy of information on Data Subjects. You agree to protect the confidentiality of Data Subjects in any Publications that you prepare by taking all reasonable care to limit the possibility of identification. You agree not to attempt to link Data to any other data source on the same samples, link the Data to any person or otherwise identify any Data Subject from the Data. 2. You agree not to transfer or disclose the Data, in whole or part, to others, except to persons within the User Institution for carrying out the Project or as reasonably necessary for Data/safety monitoring or programme management. If You wish to disclose the Data to a collaborator outside the User Institution, the third party must make a separate application for access to the Data. 3. You agree to use the Data for the advancement of medical research, and solely for the approved purpose and Project described in Schedule B and for no other purpose. 4. You agree that Data may be reissued from time to time, with suitable versioning. If the reissue is at the request of Data Subjects and/or other ethical scrutiny or concerns, you will destroy earlier versions of the Data, and upon request of Data Provider, provide written certification of such destruction. Your obligations as set out in this form pertaining to the Data and its use will continue to operate in full force and effect after Data is destroyed. 5. You agree to acknowledge in any Publication based in whole or part on the Data, the published paper(s) from which the Data derives, and the version of the Data. 6. You agree and acknowledge that the researchers of this study, the original Data creators, depositors, or copyright holders, and the Data Provider: a) bear no legal responsibility or liability for the accuracy or comprehensiveness of the Data, or from any use of the Data including further analysis or interpretation of such Data; and b) shall have no liability for any direct or indirect, consequential, or incidental damages or losses whatsoever arising out of Your use of the Data, or from the unavailability of, or lack of access to, the Data for whatever reason; and c) disclaim any and all representations, conditions or warranties (either express, implied or statutory) regarding the Data, including accuracy of the Data or that the Data corresponds with a particular description or is fit for a particular purpose. 7. You understand and acknowledge that the Data is owned by Data Provider and its collaborators and is protected by copyright, database rights and other intellectual property rights. You agree that you shall not reproduce or copy the Data, except as reasonably required to carry out the Project and for no other purpose, or sell all or any part of the Data in any circumstances. 8. You recognise that by granting You access to Data, no rights or ownership or intellectual property rights in or relating to the Data are transferred to You. 9. Upon any breach by You of the terms set out in this form, You will be required to destroy the Data in Your possession, and upon request, provide written certification to the Data Provider of such destruction. Your obligations as set out in this form pertaining to the Data and its use will continue to operate in full force and effect after Data is destroyed. 10. You accept that it may be necessary for the Data Provider to alter the terms of use of the Data from time to time. As an example, this may include specific provisions relating to the Data required by Data Provider or collaborator parties. In the event that changes are required, the Data Provider or their appointed agent will contact You to inform You of the changes and You may elect either to accept the changes or to destroy the Data in Your possession and cease its use. Your obligations as set out in this form pertaining to the Data and its use will continue to operate in full force and effect after Data is destroyed. 11. You agree that the Data is protected by and subject to applicable international laws. You are responsible for ensuring compliance with any such laws. The Data Provider reserves the right to request and inspect Your data security and management documentation to ensure the adequacy and compliance of data protection measures pertaining to storage and use of Data. 12. If the Data includes any identifiable Personal Data, You agree to: (a) take appropriate technical and organisational measures against the unauthorised or unlawful processing and/or use of the Data, any data derived from the Data and/or and all Confidential Information, against the accidental loss or destruction of, or damage to, such data and information. (b) ensure that the measures referred to in (a) shall include the measures set out in Schedule A. (c) restrict access to the Data, any data derived from the Data and all other Confidential Information to employees who strictly need access to such data and/or information to undertake the Project, and shall ensure that all such employees are reliable, and informed of the confidential nature of such data and/or information and the importance of processing it securely. (d) For the avoidance of doubt, You undertake not to disclose to a third party, whether in connection with the Project or otherwise, any data and/or information contained in or derived from the Data which constitutes Personal Data. Schedule A 1.1 You acknowledge and agree that the Data is pseudonymised Data and that You will become the Data Controller on receipt of such Data. 1.2 You will only process the Data for the purpose of carrying out the Project. 1.3 You agree that safeguards required under Article 89(1) of GDPR, and relevant conditions under the Data Protection Act 2018, are satisfied, and in particular that: (i) the processing of Data under or in connection with this Agreement is in the public interest; and (ii) if applicable, the Project has been subject to ethical review by an appropriate institutional review board or independent ethics committee. 1.4 The Data Provider does not intend to provide any information that may lead to You being able to identify any individual from whom any Data has been obtained. 1.5 You agree that You shall not analyse or make any use of any Data where it is reasonably foreseeable that such analysis or use may lead to the identification of any Data Subject or compromise the anonymity of any Data Subject in any way. 1.6 You shall notify the Data Provider immediately of any actual or suspected breach of security which involves the Data. Schedule B Name of the applicant and co-applicant(s), including affiliations, titles and contact details. For dataset deposited at EGA, applicants must have registered accounts at EGA. Student applicants must include their supervisors as a co-applicant. Name of registered user; Email; Job title; Supervisor*; Title of Project (in less than 30 words) Data Requested (please indicate relevant publication(s) describing the data, accession number(s) and/or relevant links to data, and [where relevant] details of and links to the respective Data Access Committee(s) (DAC)) Research Project: Please provide a clear description of the project and its specific aims in no more than 750 words. This should include specific details of what you plan to do with the data and include key references. Brief description of the infrastructure and experience for handling the requested data securely Signature of authorized signatory of User Institution Signature; Name; Title; Date; Signature of Principal Investigator I confirm that I have read and understood the TERMS AND CONDITIONS as set forth in this DATA ACCESS REQUEST FORM. Signature; Name; Title; Date; ~~~~~~~ Data Access Request Form, V1 CRUK-CI, Rosenfeld Lab, July 2019

Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001006040 Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
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EGAF00005804181 fq.gz 239.0 MB
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EGAF00005804282 fq.gz 11.0 GB
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EGAF00005808488 fq.gz 9.2 MB
EGAF00005808489 fq.gz 9.7 MB
EGAF00005808490 fq.gz 8.3 MB
EGAF00005808491 fq.gz 9.1 MB
EGAF00005808492 fq.gz 16.0 MB
EGAF00005808493 fq.gz 16.9 MB
EGAF00005808494 fq.gz 20.4 MB
EGAF00005808495 fq.gz 21.6 MB
EGAF00005808496 fq.gz 8.8 MB
EGAF00005808497 fq.gz 9.3 MB
EGAF00005808498 fq.gz 7.5 MB
EGAF00005808499 fq.gz 8.2 MB
EGAF00005808500 fq.gz 77.7 MB
EGAF00005808501 fq.gz 149.0 MB
EGAF00005808502 fq.gz 11.8 MB
EGAF00005808503 fq.gz 12.3 MB
EGAF00005808504 fq.gz 1.8 GB
EGAF00005808505 fq.gz 2.0 GB
EGAF00005808506 fq.gz 107.3 MB
EGAF00005808507 fq.gz 210.0 MB
EGAF00005808508 fq.gz 2.7 MB
EGAF00005808509 fq.gz 3.0 MB
EGAF00005808510 fq.gz 3.7 GB
EGAF00005808511 fq.gz 3.8 GB
EGAF00005808514 fq.gz 7.8 MB
EGAF00005808515 fq.gz 8.2 MB
2760 Files (663.3 GB)