People with Li鈥揊raumeni syndrome (LFS) harbor a germline pathogenic variant in the TP53 tumor suppressor gene, face a near 100% lifetime risk of cancer, and routinely undergo intensive surveillance protocols. Liquid biopsy has become an attractive tool for a range of clinical applications, ...
Li-Fraumeni syndrome is an inherited condition associated with a very high risk of developing cancer—often tumors affecting the breast, soft tissue, brain and other organs. It is caused by changes in the TP53 gene, which encodes a protein that helps to prevent tumor formation and is commonly ...
Oral Oncol 46: 636 – 643 Blot WJ, McLaughlin JK, Winn DM, Austin DF, Greenberg RS, Preston- Martin S, Bernstein L, Schoenberg JB, Stemhagen A, Fraumeni Jr JF (1988) Smoking and drinking in relation to oral and pharyngeal cancer. Cancer Res 48: 3282 – 3287 Chen KF, Liu CY, Lin...
Gain of Function of a p53 Hot Spot Mutation in a Mouse Model of Li-Fraumeni Syndrome To examine the mechanistic nature of these p53 missense mutations, we generated mice harboring a G-to-A substitution at nucleotide 515 of p53 ( p53 +/... GA Lang,T Iwakuma,YA Suh,... - 《Cell》...
Additionally, gene set enrichment analysis of the spatio-temporal gene set with a gene set of 24 mouse models for breast cancer led us to identify a potential new function for insulin-like growth factor 1 (Igf1r) in the basal epithelium during lactogenesis. Finally, we estab- lished that ...
TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J Med Genet. 2010;47(6):421–8. Article CAS PubMed Google Scholar Frattini M, Signoroni S, Pilotti S, Bertario L, ...
Introduction Patients with germline TP53 pathogenic variants (Li–Fraumeni syndrome [LFS]) are at extremely high lifetime risk of developing cancer. Recent data suggest that tumor surveillance for patients with LFS may improve survival through early cancer detection. The objective of this study was ...
Purpose: In the past 5 years, new screening protocols have been developed that provide improved cancer screening options for individuals with Li-Fraumeni syndrome (LFS). Very little has been published on the psychosocial impact of these screening protocols. The goals of this study were to ...
Cancer detectionCancer predisposition disorderChildrenLi-Fraumeni syndromeScreeningWhole-body magnetic resonance imagingThe Toronto protocol for cancer surveillance in children with Li-Fraumeni syndrome has been adopted worldwide.To assess the diagnostic accuracy of the imaging used in this protocol.We ...
The TP53 tumor suppressor gene is defective in the majority of sporadic breast cancers, and breast cancer is the most frequent tumor type in women with Li-Fraumeni syndrome who inherit germline mutations in TP53. This suggests that p53 is fundamental to the growth regulation and prevention of ...