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Sökning: onr:"swepub:oai:lup.lub.lu.se:b859780e-7e80-41e5-8562-b608db8dc3bb" > Genome-wide analysi...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004300naa a2200601 4500
001oai:lup.lub.lu.se:b859780e-7e80-41e5-8562-b608db8dc3bb
003SwePub
008160401s2014 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/43682742 URI
0247 a https://doi.org/10.1093/carcin/bgt3442 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Yang, Rongxi4 aut
2451 0a Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3
264 c 2013-10-14
264 1b Oxford University Press (OUP),c 2014
520 a 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.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
7001 a Chen, Bowang4 aut
7001 a Pfuetze, Katrin4 aut
7001 a Buch, Stephan4 aut
7001 a Steinke, Verena4 aut
7001 a Holinski-Feder, Elke4 aut
7001 a Stoecker, Sarah4 aut
7001 a von schoenfels, Witigo4 aut
7001 a Becker, Thomas4 aut
7001 a Schackert, Hans K.4 aut
7001 a Royer-Pokora, Brigitte4 aut
7001 a Kloor, Matthias4 aut
7001 a Schmiegel, Wolff H.4 aut
7001 a Buettner, Reinhard4 aut
7001 a Engel, Christoph4 aut
7001 a Puertolas, Jesus Lascorz4 aut
7001 a Försti, Astau Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)med-asf
7001 a Kunkel, Nelli4 aut
7001 a Bugert, Peter4 aut
7001 a Schreiber, Stefan4 aut
7001 a Krawczak, Michael4 aut
7001 a Schafmayer, Clemens4 aut
7001 a Propping, Peter4 aut
7001 a Hampe, Jochen4 aut
7001 a Hemminki, Kariu Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)med-khk
7001 a Burwinkel, Barbara4 aut
7102 a Allmänmedicin och klinisk epidemiologib Forskargrupper vid Lunds universitet4 org
7730 t Carcinogenesisd : Oxford University Press (OUP)g 35:2, s. 315-323q 35:2<315-323x 0143-3334x 1460-2180
8564 u http://dx.doi.org/10.1093/carcin/bgt344y FULLTEXT
8564 u https://academic.oup.com/carcin/article-pdf/35/2/315/17293884/bgt344.pdf
8564 8u https://lup.lub.lu.se/record/4368274
8564 8u https://doi.org/10.1093/carcin/bgt344

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