Li-Fraumeni syndrome

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Information
Disease name
Li-Fraumeni syndrome
Disease ID
DOID:3012
Description
"A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata." [url:http\://en.wikipedia.org/wiki/Li%E2%80%93Fraumeni_syndrome, url:http\://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome, url:https\://www.lfsassociation.org/what-is-lfs/]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
TP53 17 7,668,421 7,687,490 34
TP53 17 7,668,421 7,687,490 14
TSC1 9 132,891,349 132,944,616 4
PRKDC 8 47,773,111 47,960,136 4
ATR 3 142,449,235 142,578,733 4
FANCM 14 45,135,930 45,200,890 4
STK11 19 1,205,778 1,228,431 4
RECQL4 8 144,511,288 144,517,833 2
SMC6 2 17,663,812 17,753,810 2
GOLGA5 14 92,794,305 92,839,947 2
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT02950987 Active, not recruiting N/A Screening With Whole Body MRI For Detection Of Primary Tumors In Children And Adults With Li-Fraumeni Syndrome (LFS) And Other Cancer Predisposition Syndromes March 2012 December 2024
NCT01981525 Completed Phase 1 A Pilot Study of Metformin in Patients With a Diagnosis of Li-Fraumeni Syndrome January 27, 2014 December 11, 2020
NCT02289326 Completed Biomarker Monitoring in TP53 Mutation Carriers July 2014 July 2016
NCT04966923 Completed Phenotype and Prognosis of Patients With Breast Cancer and Pathogenic Variants of TP53 December 2, 2018 February 22, 2022
NCT00406445 Completed Role of p53 Gene in Metabolism Regulation in Patients With Li-Fraumeni Syndrome January 23, 2007 March 22, 2021
NCT01737255 Completed Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome October 2012 December 2017
NCT03176836 Enrolling by invitation N/A Li-Fraumeni Syndrome Imaging Study June 20, 2016 December 31, 2025
NCT05126810 Recruiting Willingness to Participate in a Trial Comparing Standard Genetic Counseling Versus Personalized Genetic Counseling November 3, 2022 October 2, 2027
NCT06088030 Recruiting Phase 2 Arsenic Trioxide Combined With Chemotherapy for the Treatment of p53-mutated Pediatric Cancer December 13, 2023 December 14, 2031
NCT01143454 Recruiting Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System July 21, 2010
NCT01443468 Recruiting Clinical and Genetic Studies of Li-Fraumeni Syndrome January 17, 2012
NCT03050268 Recruiting Familial Investigations of Childhood Cancer Predisposition April 6, 2017 March 31, 2037
NCT04367246 Recruiting Li-Fraumeni Syndrome/TP53 Biobank September 24, 2019 September 24, 2024
NCT04541654 Recruiting Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress September 15, 2020 December 31, 2025
NCT04982744 Recruiting Registry of Li Fraumeni and Li Fraumeni Like Syndromes July 2, 2020 July 2045
Disase is a (Disease Ontology)
DOID:225
Cross Reference ID (Disease Ontology)
GARD:6902
Cross Reference ID (Disease Ontology)
MESH:D016864
Cross Reference ID (Disease Ontology)
MIM:PS151623
Cross Reference ID (Disease Ontology)
NCI:C3476
Cross Reference ID (Disease Ontology)
ORDO:524
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:428850001
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0085390
Exact Synonym (Disease Ontology)
LFS
Exact Synonym (Disease Ontology)
Li-Fraumeni Familiar cancer Susceptibility syndrome
Exact Synonym (Disease Ontology)
sarcoma, breast, leukaemia and adrenal gland syndrome
Exact Synonym (Disease Ontology)
SBLA syndrome
OMIM Phenotype Series Number (OMIM)
PS151623
OrphaNumber from OrphaNet (Orphanet)
524
MeSH unique ID (MeSH (Medical Subject Headings))
D016864