Mutations and polymorphisms in TP53 gene--an overview on the role in colorectal cancer

0373761 - ÚEM 2013 RIV GB eng J - Journal Article
Naccarati, Alessio - Poláková, Veronika - Pardini, Barbara - Vodičková, Ludmila - Hemminki, K. - Kumar, R. - Vodička, Pavel (ed.)
Mutations and polymorphisms in TP53 gene--an overview on the role in colorectal cancer.
Mutagenesis. Roč. 27, č. 2 (2012), s. 211-218. ISSN 0267-8357. E-ISSN 1464-3804
R&D Projects: GA ČR GP305/09/P194; GA ČR GAP304/10/1286
Grant - others:GA UK(CZ) GA96908/B/2008
Institutional research plan: CEZ:AV0Z50390512
Keywords : TP53 mutations * TP53 polymorphisms * cancer risk
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 3.500, year: 2012

A functionally normal TP53 is essential to protect organisms from developing cancer. Somatic mutations TP53 represent one of the highest recurring perturbations in human tumours, including colorectal cancer (CRC). However, the variegated phenotype of wide spectrum of somatic mutations in TP53 and the complexity of the disease prevent a straight interpretation of the mutational analysis in tumours. In the present study, we reviewed the potential role of alterations in the TP53 gene, both somatic mutations and inherited sequence variations, in predisposition to CRC and in the prognosis and response to therapy. Critical evaluation of existing studies revealed that the inherited genetics of TP53 pathway components could be utilised to further define patient populations in their abilities to induce p53 activity in response to either DNA damaging or p53-targeted therapies.
Permanent Link: http://hdl.handle.net/11104/0206831