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Signatures of post-...
Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer
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- Forsberg, Lars A. (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Rasi, Chiara (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Pekar, Gyula (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Davies, Hanna (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Piotrowski, Arkadiusz (author)
- Med Univ Gdansk, Dept Biol & Pharmaceut Bot, PL-80416 Gdansk, Poland.
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- Absher, Devin (author)
- HudsonAlpha Inst Biotechnol, Huntsville, AL 35806 USA.
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- Razzaghian, Hamid Reza (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Ambicka, Aleksandra (author)
- Maria Sklodowska Curie Mem Inst Oncol, Krakow Branch, Ctr Oncol, PL-31115 Krakow, Poland.
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- Halaszka, Krzysztof (author)
- Maria Sklodowska Curie Mem Inst Oncol, Krakow Branch, Ctr Oncol, PL-31115 Krakow, Poland.
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- Przewoznik, Marcin (author)
- Maria Sklodowska Curie Mem Inst Oncol, Krakow Branch, Ctr Oncol, PL-31115 Krakow, Poland.
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- Kruczak, Anna (author)
- Maria Sklodowska Curie Mem Inst Oncol, Krakow Branch, Ctr Oncol, PL-31115 Krakow, Poland.
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- Mandava, Geeta (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Pasupulati, Saichand (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Hacker, Julia (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Prakash, K. Reddy (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Dasari, Ravi Chandra (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Lau Börjesson, Joey (author)
- Uppsala universitet,Institutionen för medicinsk cellbiologi
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- Penagos-Tafurt, Nelly (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Olofsson, Helena M. (author)
- Uppsala universitet,Klinisk och experimentell patologi
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- Hallberg, Gunilla (author)
- Uppsala universitet,Institutionen för kvinnors och barns hälsa,Gynekologisk endokrinologi/Naessén
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- Skotnicki, Piotr (author)
- Maria Sklodowska Curie Mem Inst Oncol, Krakow Branch, Ctr Oncol, PL-31115 Krakow, Poland.
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- Mitus, Jerzy (author)
- Maria Sklodowska Curie Mem Inst Oncol, Krakow Branch, Ctr Oncol, PL-31115 Krakow, Poland.
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- Skokowski, Jaroslaw (author)
- Med Univ Gdansk, Dept Surg Oncol, PL-80952 Gdansk, Poland.;Med Univ Gdansk, Dept Med Lab Diagnost, Bank Frozen Tissues & Genet Specimens, PL-80211 Gdansk, Poland.
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- Jankowski, Michal (author)
- Nicolaus Copernicus Univ, Ctr Oncol, Coll Med, Surg Oncol, PL-85796 Bydgoszcz, Poland.
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- Srutek, Ewa (author)
- Nicolaus Copernicus Univ, Ctr Oncol, Coll Med, Surg Oncol, PL-85796 Bydgoszcz, Poland.
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- Zegarski, Wojciech (author)
- Nicolaus Copernicus Univ, Ctr Oncol, Coll Med, Surg Oncol, PL-85796 Bydgoszcz, Poland.
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- Janson, Eva Tiensuu (author)
- Uppsala universitet,Institutionen för medicinska vetenskaper
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- Rys, Janusz (author)
- Maria Sklodowska Curie Mem Inst Oncol, Krakow Branch, Ctr Oncol, PL-31115 Krakow, Poland.
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- Tot, Tibor (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Dumanski, Jan P. (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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(creator_code:org_t)
- 2015-10-01
- 2015
- English.
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In: Genome Research. - : Cold Spring Harbor Laboratory. - 1088-9051 .- 1549-5469. ; 25:10, s. 1521-1535
- Related links:
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https://doi.org/10.1...
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https://uu.diva-port... (primary) (Raw object)
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http://genome.cshlp....
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Sporadic breast cancer (SBC) is a common disease without robust means of early risk prediction in the population. We studied 282 females with SBC, focusing on copy number aberrations in cancer-free breast tissue (uninvolved margin, UM) outside the primary tumor (PT). In total, 1162 UMs (1-14 per breast) were studied. Comparative analysis between UM(s), PT(s), and blood/skin from the same patient as a control is the core of the study design. We identified 108 patients with at least one aberrant UM, representing 38.3% of cases. Gains in gene copy number were the principal type of mutations in microscopically normal breast cells, suggesting that oncogenic activation of genes via increased gene copy number is a predominant mechanism for initiation of SBC pathogenesis. The gain of ERBB2, with overexpression of HER2 protein, was the most common aberration in normal cells. Five additional growth factor receptor genes (EGFR, FGFR1, IGF1R, LIFR, and NGFR) also showed recurrent gains, and these were occasionally present in combination with the gain of ERBB2. All the aberrations found in the normal breast cells were previously described in cancer literature, suggesting their causative, driving role in pathogenesis of SBC. We demonstrate that analysis of normal cells from cancer patients leads to identification of signatures that may increase risk of SBC and our results could influence the choice of surgical intervention to remove all predisposing cells. Early detection of copy number gains suggesting a predisposition toward cancer development, long before detectable tumors are formed, is a key to the anticipated shift into a preventive paradigm of personalized medicine for breast cancer.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Forsberg, Lars A ...
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Rasi, Chiara
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Pekar, Gyula
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Davies, Hanna
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Piotrowski, Arka ...
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Absher, Devin
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Razzaghian, Hami ...
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Ambicka, Aleksan ...
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Halaszka, Krzysz ...
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Przewoznik, Marc ...
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Kruczak, Anna
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Mandava, Geeta
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Pasupulati, Saic ...
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Hacker, Julia
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Prakash, K. Redd ...
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Dasari, Ravi Cha ...
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Lau Börjesson, J ...
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Penagos-Tafurt, ...
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Olofsson, Helena ...
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Hallberg, Gunill ...
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Skotnicki, Piotr
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Mitus, Jerzy
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Skokowski, Jaros ...
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Jankowski, Micha ...
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Srutek, Ewa
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Zegarski, Wojcie ...
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Janson, Eva Tien ...
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Rys, Janusz
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Tot, Tibor
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Dumanski, Jan P.
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- 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 ...
- Articles in the publication
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Genome Research
- By the university
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Uppsala University