Works matching DE "LI-Fraumeni syndrome"

Results: 312
    1

    Li-Fraumeni syndrome – a case report.

    Published in:
    Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2023, v. 80, n. 4, p. 362, doi. 10.2298/VSP211102036S
    By:
    • Šarac, Sanja;
    • Krsmanović, Željko;
    • Milić, Rade;
    • Radević, Tatjana;
    • Lazović-Popović, Biljana;
    • Vasiljević, Mira;
    • Šarac, Momir
    Publication type:
    Article
    2

    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
    3
    4
    5
    6
    7
    8

    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
    9
    10

    Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence.

    Published in:
    JNCI: Journal of the National Cancer Institute, 2024, v. 116, n. 8, p. 1356, doi. 10.1093/jnci/djae102
    By:
    • Luo, Minjie;
    • Wong, Derek;
    • Zelley, Kristin;
    • Wu, Jinhua;
    • Schubert, Jeffery;
    • Denenberg, Elizabeth H;
    • Fanning, Elizabeth A;
    • Chen, Jiani;
    • Gallo, Daniel;
    • Golenberg, Netta;
    • Patel, Maha;
    • Conlin, Laura K;
    • Maxwell, Kara N;
    • Wertheim, Gerald B;
    • Surrey, Lea F;
    • Zhong, Yiming;
    • Brodeur, Garrett M;
    • MacFarland, Suzanne P;
    • Li, Marilyn M
    Publication type:
    Article
    11

    TP53-associated early breast cancer: new observations from a large cohort.

    Published in:
    JNCI: Journal of the National Cancer Institute, 2024, v. 116, n. 8, p. 1246, doi. 10.1093/jnci/djae074
    By:
    • Sandoval, Renata L;
    • Bottosso, Michele;
    • Tianyu, Li;
    • Polidorio, Natalia;
    • Bychkovsky, Brittany L;
    • Verret, Benjamin;
    • Gennari, Alessandra;
    • Cahill, Sophie;
    • Achatz, Maria Isabel;
    • Caron, Olivier;
    • Imbert-Bouteille, Marion;
    • Noguès, Catherine;
    • Mawell, Kara N;
    • Fortuno, Cristina;
    • Spurdle, Amanda B;
    • Tayob, Nabihah;
    • Andre, Fabrice;
    • Garber, Judy E
    Publication type:
    Article
    12
    13
    14
    15

    Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.

    Published in:
    2021
    By:
    • Li, He;
    • Sisoudiya, Saumya D;
    • Martin-Giacalone, Bailey A;
    • Khayat, Michael M;
    • Dugan-Perez, Shannon;
    • Marquez-Do, Deborah A;
    • Scheurer, Michael E;
    • Muzny, Donna;
    • Boerwinkle, Eric;
    • Gibbs, Richard A;
    • Chi, Yueh-Yun;
    • Barkauskas, Donald A;
    • Lo, Tammy;
    • Hall, David;
    • Stewart, Douglas R;
    • Schiffman, Joshua D;
    • Skapek, Stephen X;
    • Hawkins, Douglas S;
    • Plon, Sharon E;
    • Sabo, Aniko
    Publication type:
    journal article
    16
    17
    18

    Germline TP53 variants and susceptibility to osteosarcoma.

    Published in:
    2015
    By:
    • Mirabello, Lisa;
    • Yeager, Meredith;
    • Mai, Phuong L;
    • Gastier-Foster, Julie M;
    • Gorlick, Richard;
    • Khanna, Chand;
    • Patiño-Garcia, Ana;
    • Sierrasesúmaga, Luis;
    • Lecanda, Fernando;
    • Andrulis, Irene L;
    • Wunder, Jay S;
    • Gokgoz, Nalan;
    • Barkauskas, Donald A;
    • Zhang, Xijun;
    • Vogt, Aurelie;
    • Jones, Kristine;
    • Boland, Joseph F;
    • Chanock, Stephen J;
    • Savage, Sharon A
    Publication type:
    journal article
    19
    20

    Li-Fraumeni syndrome.

    Published in:
    Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 8, p. 608, doi. 10.3969/j.issn.1672-6731.2018.08.009
    By:
    • ZHANG Xue-bin;
    • YAN Xiao-ling;
    • JIN Shu-mei;
    • TANG Fan;
    • HAN Zhu-yu
    Publication type:
    Article
    21
    22

    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
    23
    24
    25
    26
    27
    28
    29

    Multi-omic and single-cell profiling of chromothriptic medulloblastoma reveals genomic and transcriptomic consequences of genome instability.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-54547-w
    By:
    • Smirnov, Petr;
    • Przybilla, Moritz J.;
    • Simovic-Lorenz, Milena;
    • Parra, R. Gonzalo;
    • Susak, Hana;
    • Ratnaparkhe, Manasi;
    • Wong, John KL.;
    • Körber, Verena;
    • Mallm, Jan-Philipp;
    • Philippos, George;
    • Sill, Martin;
    • Kolb, Thorsten;
    • Kumar, Rithu;
    • Casiraghi, Nicola;
    • Okonechnikov, Konstantin;
    • Ghasemi, David R.;
    • Maaß, Kendra Korinna;
    • Pajtler, Kristian W.;
    • Jauch, Anna;
    • Korshunov, Andrey
    Publication type:
    Article
    30

    Germline variant affecting p53β isoforms predisposes to familial cancer.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-52551-8
    By:
    • Schubert, Stephanie A.;
    • Ruano, Dina;
    • Joruiz, Sebastien M.;
    • Stroosma, Jordy;
    • Glavak, Nikolina;
    • Montali, Anna;
    • Pinto, Lia M.;
    • Rodríguez-Girondo, Mar;
    • Barge-Schaapveld, Daniela Q. C. M.;
    • Nielsen, Maartje;
    • van Nesselrooij, Bernadette P. M.;
    • Mensenkamp, Arjen R.;
    • van Leerdam, Monique E.;
    • Sharp, Thomas H.;
    • Morreau, Hans;
    • Bourdon, Jean-Christophe;
    • de Miranda, Noel F. C. C.;
    • van Wezel, Tom
    Publication type:
    Article
    31

    Selective pressures of platinum compounds shape the evolution of therapy-related myeloid neoplasms.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-50384-z
    By:
    • Bertrums, Eline J. M.;
    • de Kanter, Jurrian K.;
    • Derks, Lucca L. M.;
    • Verheul, Mark;
    • Trabut, Laurianne;
    • van Roosmalen, Markus J.;
    • Hasle, Henrik;
    • Antoniou, Evangelia;
    • Reinhardt, Dirk;
    • Dworzak, Michael N.;
    • Mühlegger, Nora;
    • van den Heuvel-Eibrink, Marry M.;
    • Zwaan, C. Michel;
    • Goemans, Bianca F.;
    • van Boxtel, Ruben
    Publication type:
    Article
    32
    33
    34

    Assessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines.

    Published in:
    Hereditary Cancer in Clinical Practice, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s13053-025-00307-w
    By:
    • Danishevich, Anastasiia;
    • Fedorova, Daria;
    • Bodunova, Natalia;
    • Makarova, Maria;
    • Byakhova, Maria;
    • Semenova, Anna;
    • Galkin, Vsevolod;
    • Litvinova, Maria;
    • Nikolaev, Sergey;
    • Efimova, Irina;
    • Osinin, Pavel;
    • Lisitsa, Tatyana;
    • Khakhina, Anastasiya;
    • Shipulin, German;
    • Nasedkina, Tatiana;
    • Shumilova, Syuykum;
    • Gusev, Oleg;
    • Bilyalov, Airat;
    • Shagimardanova, Elena;
    • Shigapova, Leyla
    Publication type:
    Article
    35
    36
    37
    38
    39
    40
    41
    42
    43

    The Brazilian TP53 mutation (R337H) and sarcomas.

    Published in:
    PLoS ONE, 2020, v. 15, n. 1, p. 1, doi. 10.1371/journal.pone.0227260
    By:
    • Volc, Sahlua Miguel;
    • Ramos, Cíntia Regina Niederauer;
    • Galvão, Henrique de Campos Reis;
    • Felicio, Paula Silva;
    • Coelho, Aline Silva;
    • Berardineli, Gustavo Noriz;
    • Campacci, Natalia;
    • Sabato, Cristina da Silva;
    • Abrahao-Machado, Lucas Faria;
    • Santana, Iara Viana Vidigal;
    • Campanella, Nathalia;
    • Lengert, André van Helvoort;
    • Vidal, Daniel Onofre;
    • Reis, Rui Manuel;
    • Dantas, Caio F.;
    • Coelho, Robson C.;
    • Boldrini, Erica;
    • Serrano, Sergio Vicente;
    • Palmero, Edenir Inêz
    Publication type:
    Article
    44

    Additional germline findings from a tumor profiling program.

    Published in:
    BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0383-5
    By:
    • Stjepanovic, Neda;
    • Stockley, Tracy L.;
    • Bedard, Philippe L.;
    • McCuaig, Jeanna M.;
    • Aronson, Melyssa;
    • Holter, Spring;
    • Semotiuk, Kara;
    • Leighl, Natasha B.;
    • Jang, Raymond;
    • Krzyzanowska, Monika K.;
    • Oza, Amit M.;
    • Gupta, Abha;
    • Elser, Christine;
    • Ahmed, Lailah;
    • Wang, Lisa;
    • Kamel-Reid, Suzanne;
    • Siu, Lillian L.;
    • Kim, Raymond H.
    Publication type:
    Article
    45
    46
    47
    48
    49
    50