Journal Article

Association of the <i>ARLTS1</i> Cys148Arg variant with sporadic and familial colorectal cancer

Sergi Castellví-Bel, Antoni Castells, Rafael de Cid, Jenifer Muñoz, Francesc Balaguer, Victoria Gonzalo, Clara Ruiz-Ponte, Montserrat Andreu, Xavier Llor, Rodrigo Jover, Xavier Bessa, Rosa M. Xicola, Elisenda Pons, Cristina Alenda, Artemio Payá, Angel Carracedo and Josep M. Piqué

in Carcinogenesis

Volume 28, issue 8, pages 1687-1691
Published in print August 2007 | ISSN: 0143-3334
Published online April 2007 | e-ISSN: 1460-2180 | DOI:
Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer

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ARLTS1 was recently identified in chromosome 13q14 as a tumor suppressor gene of the ADP-ribosylation factor family with pro-apoptotic characteristics. Additionally, one of its genetic variants (W149X) was hypothesized to be a polymorphism associated with familial cancer. We performed a large case–control association study within the EPICOLON project aimed at evaluating the sporadic and familial colorectal cancer (CRC) risk associated with ARLTS1 genetic variants. Whereas P131L and W149X did not seem to affect CRC risk, C148R did show, for the first time in CRC, statistically significant differences between cases and controls [odds ratio (OR) = 1.45, 95% confidence interval (95% CI) = 1.13–1.86, P = 0.003], sporadic cases and controls (OR = 1.59, 95% CI = 1.13–2.23, P = 0.007) and familial cases and controls (OR = 1.55, 95% CI = 1.10–2.19, P = 0.01) in agreement with a hypothetical moderate increase of the cancer risk linked to the C148R ARLTS1 variant, both in sporadic and familial CRC cases.

Journal Article.  3345 words.  Illustrated.

Subjects: Clinical Cytogenetics and Molecular Genetics

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