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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system

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DOI

  1. BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

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  2. A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3

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  3. The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

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  4. Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database

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  5. Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

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The Danish HNPCC register is a publically financed national database. The register gathers epidemiological and genomic data in HNPCC families to improve prognosis by screening and identifying family members at risk. Diagnostic data are generated throughout the country and collected over several decades. Until recently, paper-based reports were sent to the register and typed into the database. In the EC cofunded-INFOBIOMED network of excellence, the register was a model for electronic exchange of epidemiological and genomic data between diagnosing/treating departments and the central database. The aim of digitization was to optimize the organization of screening by facilitating combination of genotype-phenotype information, and to generate IT-tools sufficiently usable and generic to be implemented in other countries and for other oncogenetic diseases. The focus was on integration of heterogeneous data, elaboration, and dissemination of classification systems and development of communication standards. At the conclusion of the EU project in 2007 the system was implemented in 12 pilot departments. In the surgical departments this resulted in a 192% increase of reports to the database. Several gaps were identified: lack of standards for data to be exchanged, lack of local databases suitable for direct communication, reporting being time-consuming and dependent on interest and feedback.
Original languageEnglish
JournalHuman Mutation
Volume32
Issue number5
Pages (from-to)551-6
Number of pages6
ISSN1059-7794
DOIs
Publication statusPublished - 2011

    Research areas

  • Colorectal Neoplasms, Hereditary Nonpolyposis, Computational Biology, Delivery of Health Care, Denmark, Humans, Medical Informatics Applications, Registries, Software

ID: 33250519