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Page 1
Li-Fraumeni syndrome heterogeneity.
Gargallo P, Yáñez Y, Segura V, Juan A, Torres B, Balaguer J, Oltra S, Castel V, Cañete A. Gargallo P, et al. Clin Transl Oncol. 2020 Jul;22(7):978-988. doi: 10.1007/s12094-019-02236-2. Epub 2019 Nov 5. Clin Transl Oncol. 2020. PMID: 31691207 Review.
Clinical variability is commonly seen in Li-Fraumeni syndrome. Phenotypic heterogeneity is present among different families affected by the same pathogenic variant in TP53 gene and among members of the same family. ...In this review, recent advances in the un …
Clinical variability is commonly seen in Li-Fraumeni syndrome. Phenotypic heterogeneity is present among different fami …
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.
Bougeard G, Renaux-Petel M, Flaman JM, Charbonnier C, Fermey P, Belotti M, Gauthier-Villars M, Stoppa-Lyonnet D, Consolino E, Brugières L, Caron O, Benusiglio PR, Bressac-de Paillerets B, Bonadona V, Bonaïti-Pellié C, Tinat J, Baert-Desurmont S, Frebourg T. Bougeard G, et al. J Clin Oncol. 2015 Jul 20;33(21):2345-52. doi: 10.1200/JCO.2014.59.5728. Epub 2015 May 26. J Clin Oncol. 2015. PMID: 26014290
PURPOSE: The aim of the study was to update the description of Li-Fraumeni syndrome (LFS), a remarkable cancer predisposition characterized by extensive clinical heterogeneity. ...
PURPOSE: The aim of the study was to update the description of Li-Fraumeni syndrome (LFS), a remarkable cancer predispo …
[Li-Fraumeni syndrome].
Keymling M, Schlemmer HP, Kratz C, Pfeil A, Bickelhaupt S, Alsady TM, Renz DM. Keymling M, et al. Radiologie (Heidelb). 2022 Dec;62(12):1026-1032. doi: 10.1007/s00117-022-01071-x. Epub 2022 Sep 27. Radiologie (Heidelb). 2022. PMID: 36166074 Review. German.
BACKGROUND: The autosomal dominant inherited Li-Fraumeni syndrome (LFS) increases the lifetime risk of developing a malignancy to almost 100%. ...CURRENT STATUS AND PERSPECTIVES: Because annual whole-body magnetic resonance imaging (MRI) has no radiation expo …
BACKGROUND: The autosomal dominant inherited Li-Fraumeni syndrome (LFS) increases the lifetime risk of developing a mal …
Li-Fraumeni Syndrome: Imaging Features and Guidelines.
Gosangi B, Dixe de Oliveira Santo I, Keraliya A, Wang Y, Irugu D, Thomas R, Khandelwal A, Rubinowitz AN, Bader AS. Gosangi B, et al. Radiographics. 2024 Aug;44(8):e230202. doi: 10.1148/rg.230202. Radiographics. 2024. PMID: 39024172 Review.
Li-Fraumeni syndrome (LFS) is a rare autosomal dominant familial cancer syndrome caused by germline mutations of the tumor protein p53 gene (TP53), which encodes the p53 transcription factor, also known as the "guardian of the genome." ...
Li-Fraumeni syndrome (LFS) is a rare autosomal dominant familial cancer syndrome caused by germline mutations of …
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.
Kratz CP, Achatz MI, Brugières L, Frebourg T, Garber JE, Greer MC, Hansford JR, Janeway KA, Kohlmann WK, McGee R, Mullighan CG, Onel K, Pajtler KW, Pfister SM, Savage SA, Schiffman JD, Schneider KA, Strong LC, Evans DGR, Wasserman JD, Villani A, Malkin D. Kratz CP, et al. Clin Cancer Res. 2017 Jun 1;23(11):e38-e45. doi: 10.1158/1078-0432.CCR-17-0408. Clin Cancer Res. 2017. PMID: 28572266 Review.
Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited condition caused by germline mutations of the TP53 tumor suppressor gene encoding p53, a transcription factor triggered as a protective cellular mechanism against different stressors. ...Herein, …
Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited condition caused by germline mutations of the TP53 tumo …
Hematologic malignancies and Li-Fraumeni syndrome.
Swaminathan M, Bannon SA, Routbort M, Naqvi K, Kadia TM, Takahashi K, Alvarado Y, Ravandi-Kashani F, Patel KP, Champlin R, Kantarjian H, Strong L, DiNardo CD. Swaminathan M, et al. Cold Spring Harb Mol Case Stud. 2019 Feb 1;5(1):a003210. doi: 10.1101/mcs.a003210. Print 2019 Feb. Cold Spring Harb Mol Case Stud. 2019. PMID: 30709875 Free PMC article. Review.
Li-Fraumeni syndrome (LFS) is an autosomal dominant condition associated with a high risk of a broad range of childhood- and adult-onset cancers. LFS is related to germline mutations of the tumor-suppressor gene TP53 The most common reported leukemia associat …
Li-Fraumeni syndrome (LFS) is an autosomal dominant condition associated with a high risk of a broad range of childhood …
Early Cancer Detection in Li-Fraumeni Syndrome with Cell-Free DNA.
Wong D, Luo P, Oldfield LE, Gong H, Brunga L, Rabinowicz R, Subasri V, Chan C, Downs T, Farncombe KM, Luu B, Norman M, Sobotka JA, Uju P, Eagles J, Pedersen S, Wellum J, Danesh A, Prokopec SD, Stutheit-Zhao EY, Znassi N, Heisler LE, Jovelin R, Lam B, Lujan Toro BE, Marsh K, Sundaravadanam Y, Torti D, Man C, Goldenberg A, Xu W, Veit-Haibach P, Doria AS, Malkin D, Kim RH, Pugh TJ. Wong D, et al. Cancer Discov. 2024 Jan 12;14(1):104-119. doi: 10.1158/2159-8290.CD-23-0456. Cancer Discov. 2024. PMID: 37874259 Free PMC article.
People with Li-Fraumeni 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. ...
People with Li-Fraumeni syndrome (LFS) harbor a germline pathogenic variant in the TP53 tumor suppressor gene, face a n …
[Update on Li-Fraumeni syndrome].
Dutzmann CM, Vogel J, Kratz CP, Pajtler KW, Pfister SM, Dörgeloh BB. Dutzmann CM, et al. Pathologe. 2019 Nov;40(6):592-599. doi: 10.1007/s00292-019-00657-y. Pathologe. 2019. PMID: 31511974 Review. German.
The Li-Fraumeni syndrome (LFS, online Mendelian inheritance in man, OMIM #151623) is considered to be one of the currently known most aggressive cancer predisposition syndromes. ...
The Li-Fraumeni syndrome (LFS, online Mendelian inheritance in man, OMIM #151623) is considered to be one of the curren …
[Li-Fraumeni syndrome].
Sejben A, Tiszlavicz L, Polyák K, Kovács L, Maráz A, Török D, Leprán Á, Ottlakán A, Furák J. Sejben A, et al. Orv Hetil. 2019 Feb;160(6):228-234. doi: 10.1556/650.2019.31290. Orv Hetil. 2019. PMID: 30730202 Hungarian.
Li-Fraumeni syndrome is a rare genetic disorder predisposing the individual to multiple different cancer types, caused by a germline mutation of the TP53 or CHEK2 genes inherited in an autosomal dominant manner. ...Genetic testing for TP53 is recommended when …
Li-Fraumeni syndrome is a rare genetic disorder predisposing the individual to multiple different cancer types, caused …
Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome.
Olive KP, Tuveson DA, Ruhe ZC, Yin B, Willis NA, Bronson RT, Crowley D, Jacks T. Olive KP, et al. Cell. 2004 Dec 17;119(6):847-60. doi: 10.1016/j.cell.2004.11.004. Cell. 2004. PMID: 15607980 Free article.
To ascertain the physiological effects of p53 point mutation, the structural mutant p53R172H and the contact mutant p53R270H (codons 175 and 273 in humans) were engineered into the endogenous p53 locus in mice. p53R270H/+ and p53R172H/+ mice are models of Li-Fraumeni …
To ascertain the physiological effects of p53 point mutation, the structural mutant p53R172H and the contact mutant p53R270H (codons 175 and …
1,869 results