Presently, ERN GENTURIS has already developed 6 guidelines: PTEN Hamartoma Tumour Syndrome, Li-Fraumeni and Heritable TP53-related cancer syndromes, neurofibromatosis type 1, schwannomatosis, Birt-Hogg-Dubé syndrome and constitutional mismatch repair deficiency. The gene discussed is TP53; the disease is Birt-Hogg-Dube syndrome.