A tp53 polymorphism is associated with increased risk of colorectal cancer and with reduced levels of tp53 mrna

ABSTRACT We undertook a case–control study to examine the possible associations of the _TP53_ variants Arg>Pro at codon 72 and _p53PIN3_, a 16 bp insertion/duplication in intron 3, with

the risk of colorectal cancer (CRC). The _p53PIN3_ A2 allele (16 bp duplication) was associated with an increased risk (OR 1.55, 95% CI 1.10−2.18, _P_=0.012), of the same order of magnitude

as that observed in previous studies for other types of cancer. The Pro72 allele was weakly associated with CRC (OR=1.34, 95% CI 0.98−1.84, _P_=0.066). The possible functional role of

_p53PIN3_ was investigated by examining the _TP53_ mRNA transcripts in 15 lymphoblastoid cell lines with different genotypes. The possibility that the insertion/deletion could lead to

alternatively spliced mRNAs was excluded. However, we found reduced levels of _TP53_ mRNA associated with the A2 allele. In conclusion, the epidemiological study suggests a role for

_p53PIN3_ in tumorigenesis, supported by the _in vitro_ characterization of this variant. Access through your institution Buy or subscribe This is a preview of subscription content, access

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INCREASED CANCER RISK Article 20 July 2021 ROLE OF _POLE_ AND _POLD1_ IN FAMILIAL CANCER Article Open access 14 August 2020 GERMLINE VARIANT AFFECTING P53Β ISOFORMS PREDISPOSES TO FAMILIAL

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Wu X, Zhao H, Amos CI, Shete S, Makan N, Hong WK, Kadlubar FF and Spitz MR . (2002). _J. Natl. Cancer Inst._, 94, 681–690. Download references ACKNOWLEDGEMENTS Federica Gemignani is a

recipient of a fellowship from the International Association for the Study on Lung Cancer (IASLC), part of the Cancer Research Foundation of America (CRFA). Stefano Landi is a recipient of a

Marie Curie fellowship (HPMFCT-2000-00483) from the European Commission. S Gutièrrez-Enriquez and N Moullan are recipients of Special Training Awards from the International Agency for

Research on Cancer. This work was partially funded by grants from the Maraton of TV3 48/95, Fondo de Investigaciones Sanitarias FIS 96/0797, FIS 00/0027, FIS 01/1264 and SAF 00/81, and

Association pour la Recherche sur le Cancer #7478. AUTHOR INFORMATION Author notes * Federica Gemignani, Victor Moreno and Stefano Landi: These authors contributed equally to the manuscript.

AUTHORS AND AFFILIATIONS * International Agency for Research on Cancer (IARC), 150, Cours Albert Thomas, Lyon, 69372, France Federica Gemignani, Stefano Landi, Norman Moullan, Amélie

Chabrier, Sara Gutiérrez-Enríquez, Janet Hall & Federico Canzian * Dipartimento di Scienze dell'Uomo e Ambiente, University of Pisa, 56100, Italy Federica Gemignani & Stefano

Landi * Institut Catala d'Oncologia, Hospitalet, Barcelona, Spain Victor Moreno, Elisabeth Guino & Gabriel Capella * Institut de Recerca Oncologica, Hospitalet, Barcelona, Spain

Miguel Angel Peinado Authors * Federica Gemignani View author publications You can also search for this author inPubMed Google Scholar * Victor Moreno View author publications You can also

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Gemignani, F., Moreno, V., Landi, S. _et al._ A _TP53_ polymorphism is associated with increased risk of colorectal cancer and with reduced levels of _TP53_ mRNA. _Oncogene_ 23, 1954–1956

(2004). https://doi.org/10.1038/sj.onc.1207305 Download citation * Received: 18 June 2003 * Revised: 21 July 2003 * Accepted: 22 October 2003 * Published: 01 December 2003 * Issue Date: 11

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link is not currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative KEYWORDS * _TP53_ * colorectal cancer * polymorphism *

mRNA levels