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

Grant number: 11/13653-7
Support type:Scholarships in Brazil - Doctorate
Effective date (Start): June 01, 2012
Effective date (End): August 31, 2015
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:Maria Isabel Alves de Souza Waddington Achatz
Grantee:Lisley Inata Mambelli
Home Institution: A C Camargo Cancer Center. Fundação Antonio Prudente (FAP). São Paulo , SP, Brazil

Abstract

Li-Fraumeni syndrome is a syndrome of predisposition to cancer related to germline mutations in TP53. Carriers of these mutations are at high risk of developing tumors at an early age, and penetrance of them reaches 90% by age 60. Recent studies in southern Brazil have identified that approximately 0.3% of the local population is a carrier of a germline mutation in codon 337 of TP53. So far, 132 families were identified and followed at Hospital AC Camargo in Sao Paulo, whose genetic background has allowed the development of epidemiological studies and anthropometric characteristics of this cohort of individuals. Recent studies indicate that p53 plays a critical role in the regulation of differentiation and symmetrical division of stem cells. Stem cells are a cell population capable of self-renewal, responsible of generating identical copies of itself, and differentiation capacity of different cell types, besides almost unlimited proliferative capacity. Although such features are extremely attractive for tissue regeneration, recent studies have highlighted how these cells are responsible for maintaining tumor growth and metastasis. This study aims to isolate and characterize primary cultures of tumor stem cells from tumors of patients with Li-Fraumeni syndrome.