[Li-Fraumeni syndrome: clinico-molecular diagnostics and medico-genetic counseling].

@article{Liubchenko2011LiFraumeniSC,
  title={[Li-Fraumeni syndrome: clinico-molecular diagnostics and medico-genetic counseling].},
  author={Ludmila Liubchenko},
  journal={Vestnik Rossiiskoi akademii meditsinskikh nauk},
  year={2011},
  volume={12},
  pages={47-52}
}
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… CONTINUE READING