Regulatory aspects of genetic research with residual human tissue: Effective and efficient data coding
Abstract
In a large retrospective cohort of breast cancer patients, BRCA1 and BRCA2 germline mutations were analysed in DNA isolated from residual paraffin-embedded tissue samples. Because it was not feasible to ask individual for informed consent, a data and DNA coding protocol, based on the Dutch 'Code of Conduct', was developed. The corner stone of the protocol is that a trusted third party, in our case a notary, keeps the coding keys of clinical data and DNA. Because (re)linkage of the combined coded clinical and genotyping data (BRCA1/2) is only possible through the notary's keys, these can be considered to be comparable to anonymised data at the level of the researcher. Issues around retrospective genotyping of allegedly high-risk mutations and the coding procedure itself are discussed. Our protocol is an appropriate solution to safeguard the privacy of patients when using residual tissue or DNA of patients. Importantly, the coding procedure also allows re-linkage of new genotyping data or extended patient follow-up data to the valuable coded dataset.
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A large proportion of patients were diagnosed before 1995, so many BRCA1/2 mutation carriers were unaware of their mutation status at diagnosis.
“Importantly, because a large proportion of patients were diagnosed before 1995, many BRCA1/2 mutation carriers were unaware of their mutation status at diagnosis.42,48”
From Impact of Age at Primary Breast Cancer on Contralateral Breast Cancer Risk in <i>BRCA1/2</i> Mutation Carriers (2016) · cites this paper as [42]
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Self-citation
- Authors
- Schmidt, M. K., Vermeulen, E., Tollenaar, R. A. E. M., Veer, L. J. V., & Leeuwen, F. E. V.
- Affiliations
- The Netherlands Cancer Institute (NL)
- Leiden University Medical Center (NL)
- Corresponding author
- Leeuwen, Flora E. van
- ORCID
- Venue
- European Journal of Cancer
- Publisher
- Elsevier BV
- Published
- 2009-09
- Volume
- 45
- Issue
- 13
- Pages
- 2376-2382
- ISSN
- 0959-8049 (ISSN-L)
- OpenAlex
- W2092252504
- Cited by
- 12
- References
- 37
- Citations by year
- 2026: 1 · 2018: 2 · 2017: 1 · 2016: 1 · 2015: 1 · 2014: 1 · 2012: 2
- FWCI
- 1.67
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- European Journal of Cancer (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Funders
- KWF Kankerbestrijding
- Division of Materials Research
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics in Clinical Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics and bioethics in healthcare
- Keywords
- residual tissue, paraffin-embedded tissue, data encoding, DNA coding, informed consent, notaries, data anonymization, privacy preservation, BRCA1, BRCA2, breast cancer, research ethics, codes of conduct
- MeSH terms
- Breast Neoplasms, Confidentiality, DNA Mutational Analysis, Female, Forms and Records Control, Humans, Informed Consent, Tissue Banks, Practice Guidelines as Topic, Germ-Line Mutation, BRCA1 Protein, BRCA2 Protein
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