期刊论文详细信息
BMC Cancer
A cervical cancer biorepository for pharmacogenomics research in Zimbabwe
Research
Charles F. B. Nhachi1  Oppah Kuguyo1  Alice Matimba1  Nomsa Tsikai2  Nyasha Chambwe3  Collet Dandara4 
[1] Clinical Pharmacology Department, University of Zimbabwe College of Health Sciences, Avondale, Mazowe Street, Harare, Zimbabwe;Department of Oncology, University of Zimbabwe College of Health Sciences, Harare, Zimbabwe;Institute of Molecular Medicine, Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY, USA;Pharmacogenomics and Drug Metabolism Research Group, Division of Human Genetics, Department of Pathology & Institute of Infectious Diseases and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa;
关键词: Cervical cancer, Cancer Biobanks;    Biorepository;    Africa;    Zimbabwe;    Pharmacogenomics;    Genomics;   
DOI  :  10.1186/s12885-022-10413-w
 received in 2022-04-20, accepted in 2022-12-06,  发布年份 2022
来源: Springer
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【 摘 要 】

BackgroundResearch infrastructures such as biorepositories are essential to facilitate genomics and its growing applications in health research and translational medicine in Africa. Using a cervical cancer cohort, this study describes the establishment of a biorepository consisting of biospecimens and matched phenotype data for use in genomic association analysis and pharmacogenomics research.MethodWomen aged > 18 years with a recent histologically confirmed cervical cancer diagnosis were recruited. A workflow pipeline was developed to collect, store, and analyse biospecimens comprising donor recruitment and informed consent, followed by data and biospecimen collection, nucleic acid extraction, storage of genomic DNA, genetic characterization, data integration, data analysis and data interpretation. The biospecimen and data storage infrastructure included shared -20 °C to -80 °C freezers, lockable cupboards, secured access-controlled laptop, password protected online data storage on OneDrive software. The biospecimen or data storage, transfer and sharing were compliant with the local and international biospecimen and data protection laws and policies, to ensure donor privacy, trust, and benefits for the wider community.ResultsThis initial establishment of the biorepository recruited 410 women with cervical cancer. The mean (± SD) age of the donors was 52 (± 12) years, comprising stage I (15%), stage II (44%), stage III (47%) and stage IV (6%) disease. The biorepository includes whole blood and corresponding genomic DNA from 311 (75.9%) donors, and tumour biospecimens and corresponding tumour DNA from 258 (62.9%) donors. Datasets included information on sociodemographic characteristics, lifestyle, family history, clinical information, and HPV genotype. Treatment response was followed up for 12 months, namely, treatment-induced toxicities, survival vs. mortality, and disease status, that is disease-free survival, progression or relapse, 12 months after therapy commencement.ConclusionThe current work highlights a framework for developing a cancer genomics cohort-based biorepository on a limited budget. Such a resource plays a central role in advancing genomics research towards the implementation of personalised management of cancer.

【 授权许可】

CC BY   
© The Author(s) 2022

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