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Rigshospitalet - a part of Copenhagen University Hospital
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Whole genome sequencing of breast cancer

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  1. Bacteremia and urogenital infection with Actinomyces urogenitalis following prolonged urinary retention

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  2. Analysis of proximal bone margins in diabetic foot osteomyelitis by conventional culture, DNA sequencing and microscopy

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  3. L-serine: a neglected amino acid with a potential therapeutic role in diabetes

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  4. Erythrocytes restrict microvesicle-induced production of reactive oxygen species by polymorphonuclear leukocytes

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  5. The impact of concurrent HIV and type II diabetes on immune maturation, immune regulation and immune activation

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  1. The Number of Signaling Pathways Altered by Driver Mutations in Chronic Lymphocytic Leukemia Impacts Disease Outcome

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  2. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

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  3. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

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Breast cancer was the first to take advantage of targeted therapy using endocrine therapy, and for up to 20% of all breast cancer patients a further significant improvement has been obtained by HER2-targeted therapy. Greater insight in precision medicine is to some extent driven by technical and computational progress, with the first wave of a true technical advancement being the application of transcriptomic analysis. Molecular subtyping further improved our understanding of breast cancer biology and has through a new tumor classification enabled allocation of personalized treatment regimens. The next wave in technical progression must be next-generation-sequencing which is currently providing new and exciting results. Large-scale sequencing data unravel novel somatic and potential targetable mutations as well as allowing the identification of new candidate genes predisposing for familial breast cancer. So far, around 15% of all breast cancer patients are genetically predisposed with most genes being factors in pathways implicated in genome maintenance. This review focuses on whole-genome sequencing and the new possibilities that this technique, together with other high-throughput analytic approaches, provides for a more individualized treatment course of breast cancer patients.

Original languageEnglish
JournalAPMIS - Journal of Pathology, Microbiology and Immunology
Volume127
Issue number5
Pages (from-to)303-315
Number of pages13
ISSN0903-4641
DOIs
Publication statusPublished - May 2019

    Research areas

  • Breast Neoplasms/genetics, DNA Mismatch Repair, Female, Genes, BRCA1, Genes, BRCA2, High-Throughput Nucleotide Sequencing, Humans, Precision Medicine, Whole Genome Sequencing/methods

ID: 58975702