Li-Fraumeni syndrome: the genetics and treatment considerations for the sarcoma and associated neoplasms.
Li-Fraumeni syndrome is an autosomal dominant disorder first reported by Drs Li and Fraumeni in 1969. Malkin was the first to describe a germline mutation as an underlying defect of Li-Fraumeni syndrome. Cancer risk in mutation carriers has been estimated to be 50% by age 40 and 90% by age 60. Children of affected parents have an approximate 50% risk of inheriting the familial mutation. Functional assays have been established that allow for easy genetic testing for TP53 mutation. Treatment goals center on early detection and surgical resection of affected organ. Targeted therapy for the TP53 gene may hold promise for the future.
Upton
Brandi
B
Department of Surgery, Louisiana State University Health Sciences Center, Shreveport, LA 71130, USA.
Chu
Quyen
Q
Li
Benjamin D L
BD
D000465:Algorithms; D000071877:Checkpoint Kinase 1; D064447:Checkpoint Kinase 2; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D010641:Phenotype; D011159:Population Surveillance; D011494:Protein Kinases / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D012509:Sarcoma / Q000188:drug therapy* / Q000235:genetics*; D016159:Tumor Suppressor Protein p53 / Q000235:genetics; D014765:Viral Vaccines / Q000235:genetics
D016159:Tumor Suppressor Protein p53; D014765:Viral Vaccines; C512972:advexin; D011494:Protein Kinases; D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D000071877:Checkpoint Kinase 1; D017346:Protein Serine-Threonine Kinases