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Concurrent DNA Copy...
Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients
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- Ronowicz, Anna (author)
- Med Univ Gdansk, Fac Pharm, PL-80416 Gdansk, Poland.
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- Janaszak-Jasiecka, Anna (author)
- Med Univ Gdansk, Fac Pharm, PL-80416 Gdansk, Poland.
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- Skokowski, Jaroslaw (author)
- Med Univ Gdansk, Cent Bank Tissues & Genet Specimens, PL-80416 Gdansk, Poland.;Med Univ Gdansk, Dept Surg Oncol, PL-80416 Gdansk, Poland.
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- Madanecki, Piotr (author)
- Med Univ Gdansk, Fac Pharm, PL-80416 Gdansk, Poland.
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- Bartoszewski, Rafal (author)
- Med Univ Gdansk, Fac Pharm, PL-80416 Gdansk, Poland.
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- Balut, Magdalena (author)
- Med Univ Gdansk, Fac Pharm, PL-80416 Gdansk, Poland.
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- Seroczynska, Barbara (author)
- Med Univ Gdansk, Cent Bank Tissues & Genet Specimens, PL-80416 Gdansk, Poland.
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- Kochan, Kinga (author)
- Med Univ Gdansk, Fac Pharm, PL-80416 Gdansk, Poland.
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- Bogdan, Adam (author)
- Med Univ Gdansk, Fac Pharm, PL-80416 Gdansk, Poland.
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- Butkus, Malgorzata (author)
- Med Univ Gdansk, Fac Pharm, PL-80416 Gdansk, Poland.
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- Peksa, Rafal (author)
- Med Univ Gdansk, Dept Pathomorphol, PL-80416 Gdansk, Poland.
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- Ratajska, Magdalena (author)
- Med Univ Gdansk, Dept Biol & Genet, PL-80416 Gdansk, Poland.
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- Kuzniacka, Alina (author)
- Med Univ Gdansk, Dept Biol & Genet, PL-80416 Gdansk, Poland.
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- Wasag, Bartosz (author)
- Med Univ Gdansk, Dept Biol & Genet, PL-80416 Gdansk, Poland.
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- Gucwa, Magdalena (author)
- Med Univ Gdansk, Fac Pharm, PL-80416 Gdansk, Poland.
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- Krzyzanowski, Maciej (author)
- Med Univ Gdansk, Dept Forens Med, PL-80416 Gdansk, Poland.
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- Jaskiewicz, Janusz (author)
- Med Univ Gdansk, Dept Surg Oncol, PL-80416 Gdansk, Poland.
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- Jankowski, Zbigniew (author)
- Med Univ Gdansk, Dept Forens Med, PL-80416 Gdansk, Poland.
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- Forsberg, Lars (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Ochocka, J. Renata (author)
- Med Univ Gdansk, Fac Pharm, PL-80416 Gdansk, Poland.
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- Limon, Janusz (author)
- Med Univ Gdansk, Dept Biol & Genet, PL-80416 Gdansk, Poland.
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- Crowley, Michael R. (author)
- Univ Alabama Birmingham, Heflin Ctr Genom Sci, Birmingham, AL USA.
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- Buckley, Patrick G. (author)
- Beaumont Hosp, Mol Pathol Lab, Dublin 9, Ireland.
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- Messiaen, Ludwine (author)
- Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL USA.
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- Dumanski, Jan P. (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Piotrowski, Arkadiusz (author)
- Med Univ Gdansk, Fac Pharm, PL-80416 Gdansk, Poland.
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Med Univ Gdansk, Fac Pharm, PL-80416 Gdansk, Poland Med Univ Gdansk, Cent Bank Tissues & Genet Specimens, PL-80416 Gdansk, Poland.;Med Univ Gdansk, Dept Surg Oncol, PL-80416 Gdansk, Poland. (creator_code:org_t)
- 2015-08-14
- 2015
- English.
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In: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 36:11, s. 1088-1099
- Related links:
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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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- Somatic mosaicism for DNA copy-number alterations (SMC-CNAs) is defined as gain or loss of chromosomal segments in somatic cells within a single organism. As cells harboring SMC-CNAs can undergo clonal expansion, it has been proposed that SMC-CNAs may contribute to the predisposition of these cells to genetic disease including cancer. Herein, the gross genomic alterations (>500 kbp) were characterized in uninvolved mammary glandular tissue from 59 breast cancer patients and matched samples of primary tumors and lymph node metastases. Array-based comparative genomic hybridization showed 10% (6/59) of patients harbored one to 359 large SMC-CNAs (mean: 1,328 kbp; median: 961 kbp) in a substantial portion of glandular tissue cells, distal from the primary tumor site. SMC-CNAs were partially recurrent in tumors, albeit with considerable contribution of stochastic SMC-CNAs indicating genomic destabilization. Targeted resequencing of 301 known predisposition and somatic driver loci revealed mutations and rare variants in genes related to maintenance of genomic integrity: BRCA1 (p.Gln1756Profs*74, p.Arg504Cys), BRCA2 (p.Asn3124Ile), NCOR1 (p.Pro1570Glnfs*45), PALB2 (p.Ser500Pro), and TP53 (p.Arg306*). Co-occurrence of gross SMC-CNAs along with point mutations or rare variants in genes responsible for safeguarding genomic integrity highlights the temporal and spatial neoplastic potential of uninvolved glandular tissue in breast cancer patients.
Subject headings
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Keyword
- breast cancer
- genome stability
- somatic mosaicism
- rearrangement
- CNA
- CNV
- driver mutations
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Ronowicz, Anna
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Janaszak-Jasieck ...
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Skokowski, Jaros ...
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Madanecki, Piotr
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Bartoszewski, Ra ...
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Balut, Magdalena
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Seroczynska, Bar ...
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Kochan, Kinga
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Bogdan, Adam
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Butkus, Malgorza ...
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Peksa, Rafal
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Ratajska, Magdal ...
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Kuzniacka, Alina
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Wasag, Bartosz
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Gucwa, Magdalena
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Krzyzanowski, Ma ...
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Jaskiewicz, Janu ...
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Jankowski, Zbign ...
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Forsberg, Lars
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Ochocka, J. Rena ...
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Limon, Janusz
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Crowley, Michael ...
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Buckley, Patrick ...
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Messiaen, Ludwin ...
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Dumanski, Jan P.
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Piotrowski, Arka ...
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- About the subject
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Genetics
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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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Human Mutation
- By the university
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Uppsala University