Yang, Rongxi, Chen, Bowang, Pfuetze, Katrin, Buch, Stephan, Steinke, Verena, Holinski-Feder, Elke, Stoecker, Sarah, von schoenfels, Witigo, Becker, Thomas, Schackert, Hans K., Royer-Pokora, Brigitte, Kloor, Matthias, Schmiegel, Wolff H., Buettner, Reinhard, Engel, Christoph ORCID: 0000-0002-7247-282X, Puertolas, Jesus Lascorz, Foersti, Asta, Kunkel, Nelli, Bugert, Peter, Schreiber, Stefan, Krawczak, Michael ORCID: 0000-0003-2603-1502, Schafmayer, Clemens, Propping, Peter, Hampe, Jochen ORCID: 0000-0002-2421-6127, Hemminki, Kari and Burwinkel, Barbara (2014). Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3. Carcinogenesis, 35 (2). S. 315 - 324. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2180

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Abstract

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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Yang, RongxiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chen, BowangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pfuetze, KatrinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buch, StephanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Steinke, VerenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Holinski-Feder, ElkeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stoecker, SarahUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
von schoenfels, WitigoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Becker, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schackert, Hans K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Royer-Pokora, BrigitteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kloor, MatthiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmiegel, Wolff H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buettner, ReinhardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Engel, ChristophUNSPECIFIEDorcid.org/0000-0002-7247-282XUNSPECIFIED
Puertolas, Jesus LascorzUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Foersti, AstaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kunkel, NelliUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bugert, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schreiber, StefanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Krawczak, MichaelUNSPECIFIEDorcid.org/0000-0003-2603-1502UNSPECIFIED
Schafmayer, ClemensUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Propping, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hampe, JochenUNSPECIFIEDorcid.org/0000-0002-2421-6127UNSPECIFIED
Hemminki, KariUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Burwinkel, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-447507
DOI: 10.1093/carcin/bgt344
Journal or Publication Title: Carcinogenesis
Volume: 35
Number: 2
Page Range: S. 315 - 324
Date: 2014
Publisher: OXFORD UNIV PRESS
Place of Publication: OXFORD
ISSN: 1460-2180
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
SUSCEPTIBILITY LOCI; CHROMOSOMAL DELETIONS; MISSING HERITABILITY; MECHANISM; RISK; POLYMORPHISM; VARIANT; SCAN; IDENTIFICATION; CHROMOTHRIPSISMultiple languages
OncologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/44750

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