Li-Fraumeni syndrome: clinico-molecular diagnostics and medico-genetic counseling
Liubchenko, L.N.
Vestnik Rossiiskoi Akademii Meditsinskikh Nauk 12: 47-52
2011
ISSN/ISBN: 0869-6047 PMID: 22379889 Document Number: 651253
Li-Fraumeni syndrome (sarcoma family syndrome, OMIM 151623) is a rare clinically and genetically hetergoeneous autosomal dominant disorder characterized by the evolvement and accumulation of soft-tissue osteogenic sarcomas in members of a family, as well as uni- and bilateral breast cancer in young women, brain tumours, adrenocortical cancer, and lymphoproliferative diseases. Germinal mutations of the TP53 gene constitute the etiological genetic basis of Li-Fraumeni syndrome. American Society of Clinical Oncology (ASCO) and National Comprehensive Cancer Network developed recommendations for genetic testing and observation of carriers of TP53 mutations. In vitro and in vivo studies demonstrated correlation between the TP53-mutant genotype and resistance to standard therapeutic modalities. This finding gave impetus to the development of new genotherapeutic approaches to the treatment of TP53-associated tumours in patients with Li-Fraumeni syndrome.