Works matching DE "LI-Fraumeni syndrome"

Results: 304
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    TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers.

    Published in:
    JNCI: Journal of the National Cancer Institute, 2025, v. 117, n. 5, p. 1069, doi. 10.1093/jnci/djae334
    By:
    • Lolas-Hamameh, Suhair;
    • Lieberman, Sari;
    • Sarahneh, Alaa;
    • Walsh, Tom;
    • Lee, Ming K;
    • Gulsuner, Suleyman;
    • Rabie, Grace;
    • Beeri, Rachel;
    • Aburayyan, Amal;
    • Mandell, Jessica B;
    • Fridman, Hila;
    • Lazer-Derbeko, Galit;
    • Klopstock, Tehila;
    • Freireich, Orit;
    • Lahad, Amnon;
    • King, Mary-Claire;
    • Levy-Lahad, Ephrat;
    • Kanaan, Moien N
    Publication type:
    Article
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    Cancer risk in carriers of TP53 germline variants grouped into different functional categories.

    Published in:
    JNCI Cancer Spectrum, 2025, v. 9, n. 1, p. 1, doi. 10.1093/jncics/pkaf008
    By:
    • Müntnich, Lucas John;
    • Dutzmann, Christina M;
    • Großhennig, Anika;
    • Härter, Valentina;
    • Keymling, Myriam;
    • Mastronuzzi, Angela;
    • Montellier, Emilie;
    • Nees, Juliane;
    • Palmaers, Natalie E;
    • Penkert, Judith;
    • Pfister, Stefan M;
    • Ripperger, Tim;
    • Schott, Sarah;
    • Silchmüller, Farina;
    • Hainaut, Pierre;
    • Kratz, Christian P
    Publication type:
    Article
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    Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors.

    Published in:
    Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 2, p. 1, doi. 10.1002/mgg3.2098
    By:
    • van de Beek, Irma;
    • Glykofridis, Iris E.;
    • Wagner, Anja;
    • den Toom, Dorine T.;
    • Bongers, Ernie M. H. F.;
    • van Leenders, Geert J. L. H.;
    • Johannesma, Paul C.;
    • Meijers‐Heijboer, Hanne E. J.;
    • Wolthuis, Rob M. F.;
    • van Steensel, Maurice A. M.;
    • Dubbink, Hendrikus J.;
    • Houweling, Arjan C.
    Publication type:
    Article
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    Clinical Features of Li-Fraumeni Syndrome in Korea.

    Published in:
    Cancer Research & Treatment, 2024, v. 56, n. 1, p. 334, doi. 10.4143/crt.2023.794
    By:
    • Ran Song;
    • Sun-Young Kong;
    • Wonyoung Choi;
    • Eun-Gyeong Lee;
    • Jaeyeon Woo;
    • Jai Hong Han;
    • Seeyoun Lee;
    • Han-Sung Kang;
    • So-Youn Jung
    Publication type:
    Article
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    Sex-Specific Associations of MDM2 and MDM4 Variants with Risk of Multiple Primary Melanomas and Melanoma Survival in Non-Hispanic Whites.

    Published in:
    Cancers, 2023, v. 15, n. 10, p. 2707, doi. 10.3390/cancers15102707
    By:
    • Ward, Sarah V.;
    • Autuori, Isidora;
    • Luo, Li;
    • LaPilla, Emily;
    • Yoo, Sarah;
    • Sharma, Ajay;
    • Busam, Klaus J.;
    • Olilla, David W.;
    • Dwyer, Terence;
    • Anton-Culver, Hoda;
    • Zanetti, Roberto;
    • Sacchetto, Lidia;
    • Cust, Anne E.;
    • Gallagher, Richard P.;
    • Kanetsky, Peter A.;
    • Rosso, Stefano;
    • Begg, Colin B.;
    • Berwick, Marianne;
    • Thomas, Nancy E.;
    • Orlow, Irene
    Publication type:
    Article
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    Whole-Body MRI Surveillance—Baseline Findings in the Swedish Multicentre Hereditary TP53 -Related Cancer Syndrome Study (SWEP53).

    Published in:
    Cancers, 2022, v. 14, n. 2, p. 380, doi. 10.3390/cancers14020380
    By:
    • Omran, Meis;
    • Tham, Emma;
    • Brandberg, Yvonne;
    • Ahlström, Håkan;
    • Lundgren, Claudia;
    • Paulsson-Karlsson, Ylva;
    • Kuchinskaya, Ekaterina;
    • Silander, Gustav;
    • Rosén, Anna;
    • Persson, Fredrik;
    • Leonhardt, Henrik;
    • Stenmark-Askmalm, Marie;
    • Berg, Johanna;
    • van Westen, Danielle;
    • Bajalica-Lagercrantz, Svetlana;
    • Blomqvist, Lennart
    Publication type:
    Article
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    Pre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma.

    Published in:
    Cancers, 2020, v. 12, n. 9, p. 2503, doi. 10.3390/cancers12092503
    By:
    • Azzollini, Jacopo;
    • Schiavello, Elisabetta;
    • Buttarelli, Francesca Romana;
    • Clerici, Carlo Alfredo;
    • Tizzoni, Laura;
    • Vecchi, Giovanna De;
    • Capra, Fabio;
    • Pisati, Federica;
    • Biassoni, Veronica;
    • Runza, Letterio;
    • Carrabba, Giorgio;
    • Giangaspero, Felice;
    • Massimino, Maura;
    • Pensotti, Valeria;
    • Manoukian, Siranoush
    Publication type:
    Article
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    Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry.

    Published in:
    Journal of Hematology & Oncology, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13045-022-01332-1
    By:
    • Penkert, Judith;
    • Strüwe, Farina J.;
    • Dutzmann, Christina M.;
    • Doergeloh, Beate B.;
    • Montellier, Emilie;
    • Freycon, Claire;
    • Keymling, Myriam;
    • Schlemmer, Heinz-Peter;
    • Sänger, Birte;
    • Hoffmann, Beatrice;
    • Gerasimov, Tanja;
    • Blattmann, Claudia;
    • Fetscher, Sebastian;
    • Frühwald, Michael;
    • Hettmer, Simone;
    • Kordes, Uwe;
    • Ridola, Vita;
    • Kroiss Benninger, Sabine;
    • Mastronuzzi, Angela;
    • Schott, Sarah
    Publication type:
    Article
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    Li-Fraumeni syndrome: A case report.

    Published in:
    Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2014, v. 71, n. 12, p. 1159, doi. 10.2298/VSP1412159I
    By:
    • Ilić, Miroslav P.;
    • Aleksandar, Kiralj;
    • Markov, Borislav;
    • Mijatov, Ivana;
    • Mijatov, Saša;
    • Vučković, Nada
    Publication type:
    Article
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    Gliomas arising in the setting of Li-Fraumeni syndrome stratify into two molecular subgroups with divergent clinicopathologic features.

    Published in:
    Acta Neuropathologica, 2020, v. 139, n. 5, p. 953, doi. 10.1007/s00401-020-02144-8
    By:
    • Sloan, Emily A.;
    • Hilz, Stephanie;
    • Gupta, Rohit;
    • Cadwell, Cathryn;
    • Ramani, Biswarathan;
    • Hofmann, Jeffrey;
    • Kline, Cassie N.;
    • Banerjee, Anu;
    • Reddy, Alyssa;
    • Oberheim Bush, Nancy Ann;
    • Chang, Susan;
    • Braunstein, Steve;
    • Chang, Edward F.;
    • Raffel, Corey;
    • Gupta, Nalin;
    • Sun, Peter P.;
    • Kim, John Y.H.;
    • Moes, Gregory;
    • Alva, Elizabeth;
    • Li, Rong
    Publication type:
    Article
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    Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome.

    Published in:
    Acta Neuropathologica, 2020, v. 139, n. 4, p. 795, doi. 10.1007/s00401-019-02118-5
    By:
    • Sumerauer, David;
    • Krskova, Lenka;
    • Vicha, Ales;
    • Misove, Adela;
    • Mamatjan, Yasin;
    • Jencova, Pavla;
    • Vlckova, Marketa;
    • Slamova, Lucie;
    • Vanova, Katerina;
    • Liby, Petr;
    • Taborsky, Jakub;
    • Koblizek, Miroslav;
    • Klubal, Radek;
    • Kyncl, Martin;
    • Zadeh, Gelareh;
    • Stary, Jan;
    • Zamecnik, Josef;
    • Ramaswamy, Vijay;
    • Zapotocky, Michal
    Publication type:
    Article
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    An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.

    Published in:
    Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.942741
    By:
    • Schwartz, Alison;
    • Manning, Danielle K.;
    • Koeller, Diane R.;
    • Chittenden, Anu;
    • Isidro, Raymond A.;
    • Hayes, Connor P.;
    • Abraamyan, Feruza;
    • Manam, Monica Devi;
    • Dwan, Meaghan;
    • Barletta, Justine A.;
    • Sholl, Lynette M.;
    • Yurgelun, Matthew B.;
    • Rana, Huma Q.;
    • Garber, Judy E.;
    • Ghazani, Arezou A.
    Publication type:
    Article
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