Li-Fraumeni Syndrome

Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.

Also Known As:

Networked: 111 relevant articles (1 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Neoplasms (Cancer)
2.	Neurofibromatosis 1 (Neurofibromatosis Type I)
3.	von Hippel-Lindau Disease (von Hippel Lindau Disease)
4.	Tuberous Sclerosis (Bourneville's Disease)
5.	Basal Cell Nevus Syndrome (Gorlin Syndrome)

Experts

1.	Dannenberg, Andrew J: 2 articles (06/2014 - 03/2014)
2.	Subbaramaiah, Kotha: 2 articles (06/2014 - 03/2014)
3.	Kopelovich, Levy: 2 articles (06/2014 - 03/2014)
4.	Herbert, Brittney-Shea: 2 articles (06/2014 - 03/2014)
5.	Caron, Olivier: 2 articles (12/2013 - 01/2010)
6.	Frebourg, Thierry: 2 articles (12/2013 - 01/2010)
7.	Mirzayans, Razmik: 2 articles (04/2010 - 12/2006)
8.	Murray, David: 2 articles (04/2010 - 12/2006)
9.	Nemunaitis, John: 2 articles (12/2008 - 05/2007)
10.	Tainsky, Michael A: 2 articles (05/2008 - 06/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Li-Fraumeni Syndrome:

1.	Codon (Codons)IBA 12/01/2001 - "A hCHK2/hCds1 polymorphism in codon 84 (A-->G at nucleotide 252) was recently identified in Li-Fraumeni syndrome patients. " 09/01/1999 - "P16INK4A codon 94 mutation observed in our family is a novel mutation in Li-Fraumeni syndrome. " 09/01/1999 - "Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family." 08/06/1998 - "We report that Li-Fraumeni syndrome (LFS) fibroblast strains heterozygous for TP53 mutation at either codon 245 or 234 exhibit markedly reduced or no expression of p21WAF1 following UV irradiation, respectively. " 01/01/1997 - "A missense mutation at codon 265 of TP53 was found in three patients of a family that complied with the definition of the Li-Fraumeni syndrome. "
2.	Valine (L-Valine)FDA Link 02/01/1992 - "One pedigree was consistent with the Li-Fraumeni syndrome, and bone marrow from both diagnosis and remission indicated a germline G to T transversion at codon 272 (valine to leucine). "
3.	Leucine (L-Leucine)FDA Link 02/01/1992 - "One pedigree was consistent with the Li-Fraumeni syndrome, and bone marrow from both diagnosis and remission indicated a germline G to T transversion at codon 272 (valine to leucine). "
4.	DNA (Deoxyribonucleic Acid)IBA 04/02/2007 - "Studies indicate that p53 missense mutations in the DNA-binding domain identical with those inherited in the Li-Fraumeni syndrome, have distinct properties. " 06/08/2007 - "A cellular senescence-like phenotype can be induced in immortal Li-Fraumeni syndrome (LFS) cells by treating them with the DNA methyltransferase inhibitor 5-aza-deoxycytidine. " 02/15/2001 - "Mechanism of functional inactivation of a Li-Fraumeni syndrome p53 that has a mutation outside of the DNA-binding domain." 01/01/2001 - "Furthermore, p53 was screened from blood DNA (exons 2-11) with temporal temperature gradient electrophoresis (TTGE) since germline mutations in p53 are seen in Li-Fraumeni syndrome. " 06/01/1998 - "The resulting two-dimensional gene scanning (TDGS) test was evaluated by screening, in a blinded fashion, 29 coded DNA samples from Li-Fraumeni syndrome patients with previously identified germline mutations. "
5.	Turcot syndromeIBA 08/01/2006 - "Familial glioblastoma multiforme is a rather uncommon entity, being in most cases associated to known genetic disorders (as Turcot syndrome, Li-Fraumeni syndrome, neurofibromatosis, etc.). " 10/08/2005 - "A few monogenetic tumour syndromes explain < 5% of all gliomas: neurofibromatosis type 1 and 2, Li-Fraumeni syndrome, tuberous sclerosis, Turcot syndrome, Gorlin syndrome, and the melanomaastrocytoma syndrome. " 04/01/2000 - "Various hereditary tumor syndromes, including Li-Fraumeni syndrome, Gorlin syndrome, and Turcot syndrome, have been linked to increased risk of developing CNS PNETs and choroid plexus tumors. " 01/01/1994 - "Such syndromes include neurofibromatosis type 2, neurofibromatosis type 1, Li-Fraumeni syndrome, as well as von Hippel-Lindau disease, tuberous sclerosis, and Turcot syndrome. " 01/01/2012 - "In the present study, we provide a review of the tumors that are associated with neurofibromatosis type 1, neurofibromatosis type 2, tuberous sclerosis complex, von Hippel-Lindau disease, Li-Fraumeni syndrome, Cowden disease, Turcot syndrome, nevoid basal cell carcinoma syndrome (Gorlin syndrome) and rhabdoid predisposition syndrome, which are the most common. "
6.	RNA (Ribonucleic Acid)IBA 05/01/1992 - "The studies reported here focus on the analysis of the expression of normal and mutant p53 RNA and protein in germline configuration and demonstrate that normal skin fibroblasts derived from members of a family with Li-Fraumeni syndrome express mutant p53Gly----Asp(245) protein and RNA at levels similar to the wild-type p53. " 11/01/2000 - "Identification of a novel PTEN intronic deletion in Li-Fraumeni syndrome and its effect on RNA processing."
7.	Pyrimidine DimersIBA 04/14/2000 - "In this study, we have analyzed the damage induction at nucleotide resolution by ligase-mediated polymerase chain reaction and compared the repair of ultraviolet radiation-induced cyclobutane pyrimidine dimers within exon 8 of p53 gene in normal and Li-Fraumeni syndrome fibroblasts as well as in normal and human papillomavirus 16 E6 and E7 protein-expressing human mammary epithelial cells. " 10/31/1997 - "We have shown previously that Li-Fraumeni syndrome fibroblasts homozygous for p53 mutations are deficient in the removal of UV-induced cyclobutane pyrimidine dimers from genomic DNA, but still proficient in the transcription-coupled repair pathway (Ford, J. "
8.	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 06/01/1995 - "This study suggests that progression towards a glioblastoma in both the general population and in patients with Li-Fraumeni syndrome may involve potential autocrine and paracrine stimulation by growth factors such as PDGF."
9.	cytidylyl-(3'-5')-cytidine (CpC)IBA 09/01/2008 - "Although both tumour types are associated with Li-Fraumeni syndrome (LFS), the penetrance of germline TP53 mutations in CPC remains to be established. " 01/01/2005 - "The authors report the successful treatment of a 2-year-old patient with widely disseminated CPC and Li-Fraumeni syndrome. " 01/01/2008 - "Choroid plexus carcinoma (CPC) has been associated with TP53 germline mutations and Li-Fraumeni syndrome (LFS). " 05/15/2011 - "The current findings demonstrated compellingly that the TP53 R337H mutation is associated not only with ACT but also with CPC and, to a lesser extent, with osteosarcoma, both of which are core-component tumors of the Li-Fraumeni syndrome." 08/01/2013 - "The authors report long-term survival of a 1-year-old patient with recurrent CPC and Li-Fraumeni syndrome with surgical resection and high-dose chemotherapy (HDC) consisting of single cycle of Busulfan and Thiotepa followed by autologous stem cell rescue without the use of radiation therapy. "
10.	Telomerase (Telomerase Reverse Transcriptase)IBA 05/01/2003 - "Immortal, telomerase-negative cell lines derived from a Li-Fraumeni syndrome patient exhibit telomere length variability and chromosomal and minisatellite instabilities." 08/13/1998 - "Telomerase activity during spontaneous immortalization of Li-Fraumeni syndrome skin fibroblasts." 07/01/2002 - "Using a model for Li Fraumeni Syndrome (LFS), infection of human telomerase resulted in maintenance of telomere lengths, extension of in vitro lifespan, and prevention of spontaneous immortalization. " 04/10/2008 - "In the present work, we show that resveratrol activates, while progesterone inactivates, continuous telomerase activity within 24 h in subpopulations of human Li-Fraumeni syndrome-derived breast epithelial cells. "

Therapies and Procedures

1.	Drug Therapy (Chemotherapy) 01/01/2012 - "Li-Fraumeni syndrome with simultaneous osteosarcoma and liver cancer: increased expression of a CD44 variant isoform after chemotherapy." 08/01/2014 - "We report the case of a young, never-smoker woman with Li-Fraumeni syndrome and advanced lung adenocarcinoma refractory to multiple lines of conventional chemotherapy and negative for actionable alterations by routine testing. " 08/01/2013 - "The authors report long-term survival of a 1-year-old patient with recurrent CPC and Li-Fraumeni syndrome with surgical resection and high-dose chemotherapy (HDC) consisting of single cycle of Busulfan and Thiotepa followed by autologous stem cell rescue without the use of radiation therapy. "
2.	Radiotherapy 01/01/2010 - "Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome." 08/20/2001 - "Two metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome."
3.	Free Tissue Flaps 08/01/2008 - "Li-Fraumeni syndrome: a case with 4 separate primary sarcomas and 5 sequential free flaps in the maxillofacial region."