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Genome-wide analysi...
Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3
- Article/chapterEnglish2014
Publisher, publication year, extent ...
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2013-10-14
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Oxford University Press (OUP),2014
Numbers
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LIBRIS-ID:oai:lup.lub.lu.se:b859780e-7e80-41e5-8562-b608db8dc3bb
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https://lup.lub.lu.se/record/4368274URI
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https://doi.org/10.1093/carcin/bgt344DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
Notes
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Colorectal cancer (CRC) is one of the most common cancer worldwide. However, a large number of genetic risk factors involved in CRC have not been understood. Copy number variations (CNVs) might partly contribute to the missing heritability of CRC. An increased overall burden of CNV has been identified in several complex diseases, whereas the association between the overall CNV burden and CRC risk is largely unknown. We performed a genome-wide investigation of CNVs on genomic DNA from 384 familial CRC cases and 1285 healthy controls by the Affymetrix 6.0 array. An increase of overall CNV burden was observed in familial CRC patients compared with healthy controls, especially for CNVs larger than 50kb (case/control ratio 1.66, P 0.025). In addition, we discovered for the first time a novel structural variation at 12p12.3 and determined the breakpoints by strategic PCR and sequencing. This 12p12.3 structural variation was found in four of 2862 CRC cases but not in 6243 healthy controls (P 0.0098). RERGL gene (RERG/RAS-like), the only gene influenced by the 12p12.3 structural variation, sharing most of the conserved regions with its close family member RERG tumor suppressor gene (RAS-like, estrogen-regulated, growth inhibitor), might be a novel CRC-related gene. In conclusion, this is the first study to reveal the contribution of the overall burden of CNVs to familial CRC risk and identify a novel rare structural variation at 12p12.3 containing RERGL gene to be associated with CRC.
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Chen, Bowang
(author)
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Pfuetze, Katrin
(author)
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Buch, Stephan
(author)
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Steinke, Verena
(author)
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Holinski-Feder, Elke
(author)
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Stoecker, Sarah
(author)
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von schoenfels, Witigo
(author)
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Becker, Thomas
(author)
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Schackert, Hans K.
(author)
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Royer-Pokora, Brigitte
(author)
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Kloor, Matthias
(author)
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Schmiegel, Wolff H.
(author)
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Buettner, Reinhard
(author)
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Engel, Christoph
(author)
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Puertolas, Jesus Lascorz
(author)
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Försti, AstaLund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups(Swepub:lu)med-asf
(author)
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Kunkel, Nelli
(author)
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Bugert, Peter
(author)
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Schreiber, Stefan
(author)
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Krawczak, Michael
(author)
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Schafmayer, Clemens
(author)
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Propping, Peter
(author)
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Hampe, Jochen
(author)
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Hemminki, KariLund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups(Swepub:lu)med-khk
(author)
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Burwinkel, Barbara
(author)
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Allmänmedicin och klinisk epidemiologiForskargrupper vid Lunds universitet
(creator_code:org_t)
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In:Carcinogenesis: Oxford University Press (OUP)35:2, s. 315-3230143-33341460-2180
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Yang, Rongxi
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Chen, Bowang
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Pfuetze, Katrin
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Buch, Stephan
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Steinke, Verena
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Holinski-Feder, ...
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Stoecker, Sarah
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von schoenfels, ...
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Becker, Thomas
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Schackert, Hans ...
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Royer-Pokora, Br ...
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Kloor, Matthias
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Schmiegel, Wolff ...
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Buettner, Reinha ...
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Engel, Christoph
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Puertolas, Jesus ...
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Försti, Asta
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Kunkel, Nelli
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Bugert, Peter
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Schreiber, Stefa ...
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Krawczak, Michae ...
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Schafmayer, Clem ...
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Propping, Peter
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Hampe, Jochen
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Hemminki, Kari
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Burwinkel, Barba ...
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- MEDICAL AND HEALTH SCIENCES
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Carcinogenesis
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Lund University