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Whole genome sequencing of breast cancer

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@article{f50ba9ca354649e8bf825c63daf43b11,
title = "Whole genome sequencing of breast cancer",
abstract = "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.",
keywords = "Breast Neoplasms/genetics, DNA Mismatch Repair, Female, Genes, BRCA1, Genes, BRCA2, High-Throughput Nucleotide Sequencing, Humans, Precision Medicine, Whole Genome Sequencing/methods",
author = "Maria Rossing and S{\o}rensen, {Claus Storgaard} and Bent Ejlertsen and Nielsen, {Finn Cilius}",
note = "{\circledC} 2019 The Authors. APMIS published by John Wiley & Sons Ltd on behalf of Scandinavian Societies for Medical Microbiology and Pathology.",
year = "2019",
month = "5",
doi = "10.1111/apm.12920",
language = "English",
volume = "127",
pages = "303--315",
journal = "APMIS - Journal of Pathology, Microbiology and Immunology",
issn = "0903-4641",
publisher = "Wiley Online",
number = "5",

}

RIS

TY - JOUR

T1 - Whole genome sequencing of breast cancer

AU - Rossing, Maria

AU - Sørensen, Claus Storgaard

AU - Ejlertsen, Bent

AU - Nielsen, Finn Cilius

N1 - © 2019 The Authors. APMIS published by John Wiley & Sons Ltd on behalf of Scandinavian Societies for Medical Microbiology and Pathology.

PY - 2019/5

Y1 - 2019/5

N2 - 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.

AB - 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.

KW - Breast Neoplasms/genetics

KW - DNA Mismatch Repair

KW - Female

KW - Genes, BRCA1

KW - Genes, BRCA2

KW - High-Throughput Nucleotide Sequencing

KW - Humans

KW - Precision Medicine

KW - Whole Genome Sequencing/methods

U2 - 10.1111/apm.12920

DO - 10.1111/apm.12920

M3 - Review

VL - 127

SP - 303

EP - 315

JO - APMIS - Journal of Pathology, Microbiology and Immunology

JF - APMIS - Journal of Pathology, Microbiology and Immunology

SN - 0903-4641

IS - 5

ER -

ID: 58975702