A two-phase case–control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22 View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-08-02

AUTHORS

A Abulí, C Fernández-Rozadilla, M D Giráldez, J Muñoz, V Gonzalo, X Bessa, L Bujanda, J M Reñé, A Lanas, A M García, J Saló, L Argüello, À Vilella, R Carreño, R Jover, R M Xicola, X Llor, L Carvajal-Carmona, I P M Tomlinson, D J Kerr, R S Houlston, J M Piqué, A Carracedo, A Castells, M Andreu, C Ruiz-Ponte, S Castellví-Bel

ABSTRACT

BACKGROUND: Colorectal cancer (CRC) is the second cause of cancer-related death in the Western world. Much of the CRC genetic risk remains unidentified and may be attributable to a large number of common, low-penetrance genetic variants. Genetic linkage studies in CRC families have reported additional association with regions 9q22-31, 3q21-24, 7q31, 11q, 14q and 22q. There are several plausible candidate genes for CRC susceptibility within the aforementioned linkage regions including PTCH1, XPA and TGFBR1 in 9q22-31, and EPHB1 and MRAS in 3q21-q24. METHODS: CRC cases and matched controls were from EPICOLON, a prospective, multicentre, nationwide Spanish initiative, composed of two independent phases. Phase 1 corresponded to 515 CRC cases and 515 controls, whereas phase 2 consisted of 901 CRC cases and 909 controls. Genotyping was performed for 172 single-nucleotide polymorphisms (SNPs) in 84 genes located within regions 9q22-31 and 3q21-q24. RESULTS: None of the 172 SNPs analysed in our study could be formally associated with CRC risk. However, rs1444601 (TOPBP1) and rs13088006 (CDV3) in region 3q22 showed interesting results and may have an effect on CRC risk. CONCLUSIONS: TOPBP1 and CDV3 genetic variants on region 3q22 may modulate CRC risk. Further validation and meta-analysis should be undertaken in larger CRC cohorts. More... »

PAGES

870-875

Journal

TITLE

British Journal of Cancer

ISSUE

6

VOLUME

105

Author Affiliations

  • Gastroenterology Department, Parc de Salut Mar, Institut Municipal d'Investigació Mèdica (IMIM), Pompeu Fabra University, Barcelona, Catalonia, Spain
  • Galician Public Foundation of Genomic Medicine (FPGMX), CIBERER, Genomics Medicine Group, Hospital Clínico, Santiago de Compostela, University of Santiago de Compostela, Galicia, Spain
  • Department of Gastroenterology, Hospital Clínic, CIBERehd, IDIBAPS, University of Barcelona, Villarroel 170, 08036, Barcelona, Catalonia, Spain
  • Department of Gastroenterology, Hospital de Donostia, CIBERehd, University of Basque Country, San Sebastian, Spain
  • Department of Gastroenterology, Hospital Universitari Arnau de Vilanova, Lleida, Catalonia, Spain
  • Department of Gastroenterology, Hospital Clínico Universitario, CIBERehd, Zaragoza, Zaragoza, Spain
  • Fundación para la Formación e Investigación Sanitaria, Murcia, Spain
  • Department of Gastroenterology, Hospital General de Vic, Barcelona, Catalonia, Spain
  • Department of Gastroenterology, Hospital Universitario La Fe, Valencia, Valencia, Spain
  • Department of Medicine, Hospital Son Llatzer, Palma de Mallorca, Balearic Islands, Spain
  • Department of Gastroenterology, Fundación Hospitalaria de Calahorra, Navarre, Spain
  • Department of Gastroenterology, Hospital General d'Alacant, Alicante, Spain
  • Section of Digestive Diseases and Nutrition, University of Illinois at Chicago, Chicago, IL, USA
  • Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
  • Department of Clinical Pharmacology, University of Oxford, Oxford, UK
  • Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/bjc.2011.296

    DOI

    http://dx.doi.org/10.1038/bjc.2011.296

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1044672560

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/21811255


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