Establishment and characterizaton of tumor stem cells from patients with Li-Fraumeni sindrome

• Grant number: 11/18744-0
• Support type: Regular Research Grants
• Duration: December 01, 2011 - November 30, 2013
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Maria Isabel Alves de Souza Waddington Achatz
• Grantee: Maria Isabel Alves de Souza Waddington Achatz
• Home Institution: A C Camargo Cancer Center. Fundação Antonio Prudente (FAP). São Paulo , SP, Brazil
• Assoc. researchers: Irina Kerkis

Abstract

Li-Fraumeni syndrome is a cancer predisposition syndrome related to germline mutations in TP53. Carriers of these mutations are at high risk of developing tumors at an early age and a lifetime risk of developing tumours of 90%. Recent studies in Southern Brazil found that about 0.3% of the local population is carrier of a germline mutation in codon 337 of TP53, and it is estimated that the number of carriers in the region exceeds 200 000. So far, 132 families were identified and followed at AC Camargo Hospital in Sao Paulo, whose unique genetic context has allowed the development of epidemiological studies and anthropometric characterization of this homogeneous cohort of individuals. Recent studies indicate that p53 plays a critical role in regulating the differentiation and asymmetric division of stem cells. This study aims to evaluate the presence of tumor stem cells in tumors from patients with Li-Fraumeni syndrome and how these cells could be acting in tissue regeneration. With this analysis we hope to contribute to a better understanding of the role of TP53 in the balance between tumor suppression and tissue regeneration. (AU)