Sökning: WFRF:(Woodward Eleanor L.) >
Identification of t...
Identification of targetable lesions in anaplastic thyroid cancer by genome profiling
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- Ravi, Naveen (författare)
- Lund University,Lunds universitet,Aneuploidi i cancer,Forskargrupper vid Lunds universitet,Aneuploidy in cancer,Lund University Research Groups
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- Yang, Minjun (författare)
- Lund University,Lunds universitet,Aneuploidi i cancer,Forskargrupper vid Lunds universitet,Aneuploidy in cancer,Lund University Research Groups
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- Gretarsson, Sigurdur (författare)
- Lund University,Lunds universitet,Öron-, näs- och halssjukdomar, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Huvud- och halscancergruppen,Forskargrupper vid Lunds universitet,Otorhinolaryngology (Lund),Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Head and Neck Cancer Research Group,Lund University Research Groups,Skåne University Hospital
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- Jansson, Caroline (författare)
- Lund University,Lunds universitet,Cancercellers evolution,Forskargrupper vid Lunds universitet,Pathways of cancer cell evolution,Lund University Research Groups
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- Mylona, Nektaria (författare)
- Lund University,Skåne University Hospital
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- Sydow, Saskia R. (författare)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
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- Woodward, Eleanor L. (författare)
- Lund University,Lunds universitet,Aneuploidi i cancer,Forskargrupper vid Lunds universitet,Aneuploidy in cancer,Lund University Research Groups
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- Ekblad, Lars (författare)
- Lund University,Lunds universitet,Huvud- och halscancergruppen,Forskargrupper vid Lunds universitet,Head and Neck Cancer Research Group,Lund University Research Groups,Skåne University Hospital
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- Wennerberg, Johan (författare)
- Lund University,Lunds universitet,Öron-, näs- och halssjukdomar, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Huvud- och halscancergruppen,Forskargrupper vid Lunds universitet,Otorhinolaryngology (Lund),Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Head and Neck Cancer Research Group,Lund University Research Groups,Skåne University Hospital
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- Paulsson, Kajsa (författare)
- Lund University,Lunds universitet,Aneuploidi i cancer,Forskargrupper vid Lunds universitet,Aneuploidy in cancer,Lund University Research Groups
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(creator_code:org_t)
- 2019-03-22
- 2019
- Engelska.
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Ingår i: Cancers. - : MDPI AG. - 2072-6694. ; 11:3
- Relaterad länk:
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http://dx.doi.org/10... (free)
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https://www.mdpi.com...
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https://lup.lub.lu.s...
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https://doi.org/10.3...
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Abstract
Ämnesord
Stäng
- Anaplastic thyroid cancer (ATC) is a rare and extremely malignant tumor with no available cure. The genetic landscape of this malignancy has not yet been fully explored. In this study, we performed whole exome sequencing and the RNA-sequencing of fourteen cases of ATC to delineate copy number changes, fusion gene events, and somatic mutations. A high frequency of genomic amplifications was seen, including 29% of cases having amplification of CCNE1 and 9% of CDK6; these events may be targetable by cyclin dependent kinase (CDK) inhibition. Furthermore, 9% harbored amplification of TWIST1, which is also a potentially targetable lesion. A total of 21 fusion genes in five cases were seen, none of which were recurrent. Frequent mutations included TP53 (55%), the TERT promoter (36%), and ATM (27%). Analyses of mutational signatures showed an involvement of processes that are associated with normal aging, defective DNA mismatch repair, activation induced cytidine deaminase (AID)/apolipoprotein B editing complex (APOBEC) activity, failure of DNA double-strand break repair, and tobacco exposure. Taken together, our results shed new light on the tumorigenesis of ATC and show that a relatively large proportion (36%) of ATCs harbor genetic events that make them candidates for novel therapeutic approaches. When considering that ATC today has a mortality rate of close to 100%, this is highly relevant from a clinical perspective.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Nyckelord
- Anaplastic thyroid cancer
- CCNE1
- Copy number alterations
- Formalin-fixed paraffin embedded tissues
- Fusion genes
- RNA-sequencing
- Somatic mutations
- Whole exome sequencing
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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Cancers
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Ravi, Naveen
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Yang, Minjun
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Gretarsson, Sigu ...
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Jansson, Carolin ...
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Mylona, Nektaria
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Sydow, Saskia R.
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Woodward, Eleano ...
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Ekblad, Lars
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Wennerberg, Joha ...
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Paulsson, Kajsa
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- MEDICIN OCH HÄLSOVETENSKAP
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Cancers
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