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PIK3CA is recurrent...
PIK3CA is recurrently mutated in canine mammary tumors, similarly to in human mammary neoplasia
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- Arendt, Maja Louise (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Univ Copenhagen, Dept Vet Clin Sci, Copenhagen, Denmark.
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- Sakthikumar, Sharadha (author)
- Broad Inst MIT & Harvard, Cambridge, MA 02142 USA.
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- Melin, Malin (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för immunologi, genetik och patologi
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- Elvers, Ingegerd (author)
- Karolinska Hosp, Stockholm, Sweden.
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- Rivera, Patricio (author)
- Vettris Sundsvall, Sundsvall, Sweden.
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- Larsen, Majbritt (author)
- Evidensia Specialist Hosp, Helsingborg, Sweden.
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- Saellström, Sara (author)
- Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för kliniska vetenskaper (KV),Department of Clinical Sciences,Swedish Univ Agr Sci, Uppsala, Sweden.
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- Lingaas, Frode (author)
- Norwegian Univ Life Sci, Vet Fac, As, Norway.
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- Rönnberg, Henrik (author)
- Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för kliniska vetenskaper (KV),Department of Clinical Sciences,Swedish Univ Agr Sci, Uppsala, Sweden.
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- Lindblad-Toh, Kerstin (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Broad Inst MIT & Harvard, Cambridge, MA 02142 USA.
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(creator_code:org_t)
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- 2023-01-12
- 2023
- English.
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In: Scientific Reports. - : Springer Nature. - 2045-2322. ; 13
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Abstract
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- Biological features of neoplastic disease affecting mammary gland tissue are shared between canines and humans. Research performed in either species has translational value and early phase clinical trials performed in canines with spontaneous disease could be informative for human trials. The purpose of this study was to investigate the somatic genetic aberrations occurring in canine mammary neoplasia by exome capture and next generation sequencing. Based on 55 tumor-normal pairs we identified the PIK3CA gene as the most commonly mutated gene in canine mammary tumors, with 25% of samples carrying mutations in this gene. A recurrent missense mutation was identified, p.H1047R, which is homologous to the human PIK3CA hotspot mutation found in different types of breast neoplasia. Mutations homologous to other known human mutation hotspots such as the PIK3CA p.E545K and the KRAS p.G12V/D were also identified. We identified copy number aberrations affecting important tumor suppressor and oncogenic pathways including deletions affecting the PTEN tumor suppressor gene. We suggest that activation of the KRAS or PIK3CA oncogenes or loss of the PTEN suppressor gene may be important for mammary tumor development in dogs. This data endorses the conservation of cancer across species and the validity of studying cancer in non-human species.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- LANTBRUKSVETENSKAPER -- Veterinärmedicin -- Klinisk vetenskap (hsv//swe)
- AGRICULTURAL SCIENCES -- Veterinary Science -- Clinical Science (hsv//eng)
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- ref (subject category)
- art (subject category)
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- By the author/editor
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Arendt, Maja Lou ...
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Sakthikumar, Sha ...
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Melin, Malin
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Elvers, Ingegerd
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Rivera, Patricio
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Larsen, Majbritt
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show more...
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Saellström, Sara
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Lingaas, Frode
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Rönnberg, Henrik
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Lindblad-Toh, Ke ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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- AGRICULTURAL SCIENCES
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AGRICULTURAL SCI ...
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and Veterinary Scien ...
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and Clinical Science
- Articles in the publication
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Scientific Repor ...
- By the university
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Uppsala University
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Swedish University of Agricultural Sciences