Works matching Li-Fraumeni syndrome

Results: 712

Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.

Published in:

2018

By:

Penkert, Judith;
Schmidt, Gunnar;
Hofmann, Winfried;
Schubert, Stephanie;
Schieck, Maximilian;
Auber, Bernd;
Ripperger, Tim;
Hackmann, Karl;
Sturm, Marc;
Prokisch, Holger;
Hille-Betz, Ursula;
Mark, Dorothea;
Illig, Thomas;
Schlegelberger, Brigitte;
Steinemann, Doris

Publication type:

journal article

SÍNDROME DE LI-FRAUMENI: UM RELATO DE CASO DE UMA JOVEM COM LEIOMIOSSARCOMA PANCREÁTICO.

Published in:

Revista Foco (Interdisciplinary Studies Journal), 2024, v. 17, n. 4, p. 1, doi. 10.54751/revistafoco.v17n4-105

By:

Cunha de Sá Gonçalves, Maria Júlia;
Mendes Barros, Rafhael;
de Sousa Rosa, Ellen Rodrigues;
Pimentel de Oliveira, Brunela;
Santos Barbosa, Victória;
de Oliveira Franco, Amanda;
Alvim Mendes, Renata

Publication type:

Article

Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.

Published in:

Cancer (0008543X), 2013, v. 119, n. 24, p. 4341, doi. 10.1002/cncr.28346

By:

Giacomazzi, Juliana;
Selistre, Simone G.;
Rossi, Cristina;
Alemar, Barbara;
Santos‐Silva, Patricia;
Pereira, Fernando S.;
Netto, Cristina B.;
Cossio, Silvia L.;
Roth, Daniela E.;
Brunetto, Algemir L.;
Zagonel‐Oliveira, Marcelo;
Martel‐Planche, Ghyslaine;
Goldim, Jose R.;
Hainaut, Pierre;
Camey, Suzi A.;
Ashton‐Prolla, Patricia

Publication type:

Article

Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort.

Published in:

2016

By:

Mai, Phuong L.;
Best, Ana F.;
Peters, June A.;
DeCastro, Rosamma M.;
Khincha, Payal P.;
Loud, Jennifer T.;
Bremer, Renée C.;
Rosenberg, Philip S.;
Savage, Sharon A.;
Bremer, Renée C

Publication type:

journal article

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

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

Peripheral precocious puberty in Li–Fraumeni syndrome: a case report and literature review of pure androgen-secreting adrenocortical tumors.

Published in:

2023

By:

Ryckx, Sofie;
De Schepper, Jean;
Giron, Philippe;
Maes, Ken;
Vaeyens, Freya;
Wilgenhof, Kaat;
Lefesvre, Pierre;
Ernst, Caroline;
Vanderlinden, Kim;
Klink, Daniel;
Hes, Frederik;
Vanbesien, Jesse;
Gies, Inge;
Staels, Willem

Publication type:

Case Study

Peripheral precocious puberty in Li–Fraumeni syndrome: a case report and literature review of pure androgen-secreting adrenocortical tumors.

Published in:

2023

By:

Ryckx, Sofie;
De Schepper, Jean;
Giron, Philippe;
Maes, Ken;
Vaeyens, Freya;
Wilgenhof, Kaat;
Lefesvre, Pierre;
Ernst, Caroline;
Vanderlinden, Kim;
Klink, Daniel;
Hes, Frederik;
Vanbesien, Jesse;
Gies, Inge;
Staels, Willem

Publication type:

Case Study

Peripheral precocious puberty in Li–Fraumeni syndrome: a case report and literature review of pure androgen-secreting adrenocortical tumors.

Published in:

2023

By:

Ryckx, Sofie;
De Schepper, Jean;
Giron, Philippe;
Maes, Ken;
Vaeyens, Freya;
Wilgenhof, Kaat;
Lefesvre, Pierre;
Ernst, Caroline;
Vanderlinden, Kim;
Klink, Daniel;
Hes, Frederik;
Vanbesien, Jesse;
Gies, Inge;
Staels, Willem

Publication type:

Case Study

Rectal leiomyosarcoma as the initial phenotypic manifestation of Li–Fraumeni-like syndrome: a case report and review of the literature.

Published in:

2022

By:

Severino, Natalia Parisi;
Waisberg, Jaques;
Fragoso, Maria Candida Barisson Villares;
de Lima, Luiz Guilherme Cernaglia Aureliano;
Balsamo, Flavia;
Henriques, Alexandre Cruz;
Bianco, Bianca;
de Sousa Gehrke, Flávia

Publication type:

Case Study

Li-Fraumeni syndrome: a paradigm for the understanding of hereditary cancer predisposition.

Published in:

British Journal of Haematology, 2017, v. 176, n. 4, p. 539, doi. 10.1111/bjh.14461

By:

Valdez, Jessica M.;
Nichols, Kim E.;
Kesserwan, Chimene

Publication type:

Article

A novel p.Gly187Arg TP53 variant appears to result in Li-Fraumeni syndrome.

Published in:

Pediatric Hematology & Oncology, 2018, v. 35, n. 3, p. 203, doi. 10.1080/08880018.2018.1502852

By:

Doyle, Meagan R.;
Johnston, J. Martin

Publication type:

Article

Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocol.

Published in:

Trials, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s13063-024-07929-w

By:

Dixon-Zegeye, Miriam;
Shaw, Rachel;
Collins, Linda;
Perez-Smith, Kendra;
Ooms, Alexander;
Qiao, Maggie;
Pantziarka, Pan;
Izatt, Louise;
Tischkowitz, Marc;
Harrison, Rachel E.;
George, Angela;
Woodward, Emma R.;
Lord, Simon;
Hawkes, Lara;
Evans, D. Gareth;
Franklin, James;
Hanson, Helen;
Blagden, Sarah P.

Publication type:

Article

Baseline surveillance in Li Fraumeni syndrome using whole-body MRI: a systematic review and updated meta-analysis.

Published in:

European Radiology, 2025, v. 35, n. 2, p. 643, doi. 10.1007/s00330-024-10983-2

By:

Dacoregio, Maria Inez;
Abrahão Reis, Pedro Cotta;
Gonçalves Celso, Davi Said;
Romero, Lorena Escalante;
Altmayer, Stephan;
Vilbert, Maysa;
Moraes, Fabio Ynoe;
Gomy, Israel

Publication type:

Article

TP53 Pathogenic Variants in Early-Onset Breast Cancer Patients Fulfilling Hereditary Breast and Ovary Cancer and Li-Fraumeni-like Syndromes.

Published in:

Biomolecules (2218-273X), 2022, v. 12, n. 5, p. 640, doi. 10.3390/biom12050640

By:

da Silva, Paula Francinete Faustino;
Goveia, Rebeca Mota;
Teixeira, Thaís Bomfim;
Gamba, Bruno Faulin;
de Lima, Aliny Pereira;
Rogatto, Sílvia Regina;
Silveira-Lacerda, Elisângela de Paula

Publication type:

Article

Unusual course of disease and genetic profile in Li-Fraumeni syndrome-associated osteosarcoma – a case report.

Published in:

2021

By:

Puzik, Alexander;
Uhl, Markus;
Ruf, Juri;
Schumacher, Tilmann;
Kontny, Udo

Publication type:

Case Study

Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome.

Published in:

Hereditary Cancer in Clinical Practice, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s13053-020-00158-7

By:

Cruz, Ofelia;
Caloretti, Victoria;
Salvador, Hector;
Celis, Veronica;
Santa-Maria, Vicente;
Morales La Madrid, Andrés;
Suñol, Mariona;
Puerta, Patricia;
Muchart, Jordi;
Krauel, Lucas;
Lavarino, Cinzia

Publication type:

Article

Does PTEN gene mutation play any role in Li-Fraumeni syndrome?

Published in:

Medical Journal of the Islamic Republic of Iran, 2016, v. 30, n. 1, p. 1

By:

Akouchekian, Mansoureh;
Hemati, Simin;
Jafari, Davood;
Jalilian, Nazanin;
Manshadi, Masoumeh Dehghan

Publication type:

Article

Carbon Distribution Analysis on Mutations Responsible for Li-Fraumeni Syndrome.

Published in:

GSTF International Journal on Bioinformatics & Biotechnology, 2012, v. 1, n. 2, p. 1, doi. 10.5176/2251-3140&lowbar;1.2.8

By:

Mamboya, F. A.;
Nsimama, P. D.;
Amri, E.;
Sharmila, J. S.;
Rajasekaran, E.

Publication type:

Article

Li–Fraumeni Syndrome: Mutation of TP53 Is a Biomarker of Hereditary Predisposition to Tumor: New Insights and Advances in the Treatment.

Published in:

Cancers, 2022, v. 14, n. 15, p. 3664, doi. 10.3390/cancers14153664

By:

Rocca, Valentina;
Blandino, Giovanni;
D'Antona, Lucia;
Iuliano, Rodolfo;
Di Agostino, Silvia

Publication type:

Article

Inhibiting the Priming for Cancer in Li-Fraumeni Syndrome.

Published in:

Cancers, 2022, v. 14, n. 7, p. 1621, doi. 10.3390/cancers14071621

By:

Pantziarka, Pan;
Blagden, Sarah

Publication type:

Article

Transmission ratio distortion of germline TP53 variants in Li–Fraumeni syndrome families.

Published in:

Cancer (0008543X), 2025, v. 131, n. 13, p. 1, doi. 10.1002/cncr.35943

By:

Halpern, Naama;
Kventsel, Iris;
Strauss, Gal;
Peerless, Yehudit;
Boursi, Ben;
Yalon, Michal;
Goldberg, Yael;
Kedar, Inbal;
Shani, Hagit;
Friedman, Eitan;
Bernstein‐Molho, Rinat

Publication type:

Article

Oncological Follow-up with 2-[<sup>18</sup>F]-FDG PET/CT in Li-Fraumeni Syndrome.

Published in:

Molecular Imaging & Radionuclide Therapy, 2021, v. 30, n. 2, p. 110, doi. 10.4274/mirt.galenos.2020.33255

By:

Hernandez, Marylin Acuña;
Vega Gonzalez, Iván Fabricio;
Vélez, Lina López;
Arango, Catalina Melo

Publication type:

Article

Atypical fibroxanthoma arising in a young patient with Li-Fraumeni syndrome.

Published in:

Journal of Cutaneous Pathology, 2014, v. 41, n. 3, p. 303, doi. 10.1111/cup.12274

By:

Lee, Sun Mi;
Zhang, Wei;
Fernandez, Martin P.

Publication type:

Article

Spitzoid Melanoma in a Child with Li-Fraumeni Syndrome.

Published in:

2014

By:

KOLLIPARA, RAMYA;
COOLEY, LINDA D.;
HORII, KIMBERLY A.;
HETHERINGTON, MAXINE L.;
LEBOIT, PHILIP E.;
SINGH, VIVEKANAND;
ZWICK, DAVID L.

Publication type:

Case Study

Adjuvant Radiotherapy and Breast Cancer in Patients with Li-Fraumeni Syndrome: A Critical Review.

Published in:

Cancers, 2025, v. 17, n. 7, p. 1206, doi. 10.3390/cancers17071206

By:

Shrebati, Adnan;
Loap, Pierre;
Kirova, Youlia

Publication type:

Article

The first pancreatic neuroendocrine tumor in Li-Fraumeni syndrome: a case report.

Published in:

2020

By:

Aversa, John G.;
De Abreu, Francine Blumental;
Yano, Sho;
Xi, Liqiang;
Hadley, Donald W.;
Manoli, Irini;
Raffeld, Mark;
Sadowski, Samira M.;
Nilubol, Naris

Publication type:

journal article

Chondroblastic osteosarcoma of maxilla, a patient with Li-Fraumeni syndrome.

Published in:

2018

By:

Zelinka, J.;
Blahák, J.;
Daněk, Z.;
Bulik, O.

Publication type:

Case Study

Novel p53 splicing site mutation in Li-Fraumeni-like syndrome with osteosarcoma.

Published in:

Pediatrics International, 2013, v. 55, n. 1, p. 107, doi. 10.1111/j.1442-200X.2012.03641.x

By:

Sakurai, Naoto;
Iwamoto, Shotaro;
Miura, Yoshihiro;
Nakamura, Tomoki;
Matsumine, Akihiko;
Nishioka, Junji;
Nakatani, Kaname;
Komada, Yoshihiro

Publication type:

Article

Frequent occurrence of gastric cancer in Asian kindreds with Li-Fraumeni syndrome.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 450, doi. 10.1111/cge.12525

By:

Ariffin, H.;
Chan, A.S.L.;
Oh, L.;
Abd‐Ghafar, S.;
Ong, G.B.;
Mohamed, M.;
Razali, H.;
Juraida, E.;
Teo, S.H.;
Karsa, M.;
Shamsani, J.;
Hainaut, P.

Publication type:

Article

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

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

LI-FRAUMENI SYNDROME - A GENETIC DISORDER PREDISPOSING TO MULTIPLE MALIGNANCIES: CASE REPORT.

Published in:

Acta Marisiensis. Seria Medica, 2024, v. 70, p. 225

By:

Ghetler, Bianca-Isabel;
Savu, Madalina Maria;
Kutasi, Enikő;
Cătană, Andreea

Publication type:

Article

The evaluation of the possibility of Li-Fraumeni syndrome in cancer patients in East Azarbaijan Province of Iran.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2024, v. 43, n. 5, p. 417, doi. 10.1080/15257770.2023.2264361

By:

Esmaeilzadeh Aghjeh, Maryam;
Hosseinpour Feizi, Mohammad Ali;
Safaralizadeh, Reza;
Hosseinpour Feizi, Abbas Ali;
Pouladi, Nasser

Publication type:

Article

Association Between the Oligomeric Status of p53 and Clinical Outcomes in Li-Fraumeni Syndrome.

Published in:

2018

By:

Fischer, Nicholas W;
Prodeus, Aaron;
Tran, James;
Malkin, David;
Gariépy, Jean

Publication type:

journal article

Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched by TP53 p.R337H Carriers.

Published in:

Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.836937

By:

Sandoval, Renata Lazari;
Polidorio, Natalia;
Leite, Ana Carolina Rathsam;
Cartaxo, Mariana;
Pisani, Janina Pontes;
Quirino, Carla Vanessa;
Cezana, Loureno;
Pereira, Natálya Gonçalves;
Pereira, Allan Andresson Lima;
Rossi, Benedito Mauro;
Achatz, Maria Isabel

Publication type:

Article

Breast cancer in patients with Li-Fraumeni syndrome - a case-series study and review of literature.

Published in:

Breast Cancer: Targets & Therapy, 2017, v. 9, p. 207, doi. 10.2147/BCTT.S134241

By:

Nandikolla, Amara G.;
Venugopal, Sangeetha;
Anampa, Jesus

Publication type:

Article

"I need to know if I'm going to die young": Adolescent and young adult experiences of genetic testing for Li–Fraumeni syndrome.

Published in:

Journal of Psychosocial Oncology, 2021, v. 39, n. 1, p. 54, doi. 10.1080/07347332.2020.1768199

By:

Forbes Shepherd, Rowan;
Werner-Lin, Allison;
Keogh, Louise A.;
Delatycki, Martin B.;
Forrest, Laura E.

Publication type:

Article

Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: Connection versus independence.

Published in:

Journal of Psychosocial Oncology, 2019, v. 37, n. 2, p. 178, doi. 10.1080/07347332.2018.1543376

By:

Young, Jennifer L.;
Pantaleao, Ashley;
Zaspel, Lori;
Bayer, Jessica;
Peters, June A.;
Khincha, Payal P.;
Bremer, Renee C.;
Loud, Jennifer T.;
Greene, Mark H.;
Achatz, Maria Isabel;
Savage, Sharon A.;
Werner-Lin, Allison

Publication type:

Article

Unmet Supportive Care Needs in Adults With Li–Fraumeni Syndrome: A Mixed‐Methods Study.

Published in:

European Journal of Cancer Care, 2025, v. 2025, p. 1, doi. 10.1155/ecc/3342369

By:

Kiermeier, Senta;
Maatouk, Imad;
Nees, Juliane;
Keymling, Myriam;
Richter, Jenniffer;
Dutzmann, Christina M.;
Silchmüller, Farina;
Kratz, Christian P.;
Schott, Sarah;
Zakaria, Andee Dzulkarnaen

Publication type:

Article

诊断横纹肌肉瘤的一个Li-Fraumeni 综合征家系报道并文献复习.

Published in:

Chinese Journal of Contemporary Pediatrics, 2017, v. 19, n. 12, p. 1263, doi. 10.7499/j.issn.1008-8830.2017.12.008

By:

谢瑶;
赵卫红;
华瑛;
孙青;
吴鹏辉

Publication type:

Article

First case of endometrial cancer after yolk sac tumor in a patient with Li-Fraumeni syndrome.

Published in:

BMC Women's Health, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12905-023-02426-9

By:

Ye, Qiu-Lin;
Qi, Yue;
Liu, Juan-Juan;
Hu, Yue-Xin;
Lv, Yuan;
Lin, Bei

Publication type:

Article

How do young people with a hereditary cancer predisposition syndrome understand and experience cancer survivorship? "With Li‐Fraumeni syndrome, it's just an intermission".

Published in:

Psycho-Oncology, 2023, v. 32, n. 3, p. 375, doi. 10.1002/pon.6080

By:

Werner‐Lin, Allison;
Forbes Shepherd, Rowan;
Rising, Camella J.;
Thompson, Ashley S.;
Huelsnitz, Chloe;
Wilsnack, Catherine;
Boyd, Patrick;
Sleight, Alix G.;
Hutson, Sadie;
Khincha, Payal P.

Publication type:

Article

Pediatric-type high-grade gliomas with PDGFRA amplification in adult patients with Li-Fraumeni syndrome: clinical and molecular characterization of three cases.

Published in:

Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01762-7

By:

Kibe, Yuji;
Ohka, Fumiharu;
Aoki, Kosuke;
Yamaguchi, Junya;
Motomura, Kazuya;
Ito, Eiji;
Takeuchi, Kazuhito;
Nagata, Yuichi;
Ito, Satoshi;
Mizutani, Nobuhiko;
Shiba, Yoshiki;
Maeda, Sachi;
Nishikawa, Tomohide;
Shimizu, Hiroki;
Saito, Ryuta

Publication type:

Article

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

Multiple Metachronous Osteosarcomas in a Patient with Li-Fraumeni Syndrome.

Published in:

Pediatric Hematology & Oncology, 2014, v. 31, n. 4, p. 359, doi. 10.3109/08880018.2013.848388

By:

Zils, Katja;
Wirth, Thomas;
Loff, Steffan;
Biskup, Saskia;
von Kalle, Thekla;
Bielack, Stefan

Publication type:

Article

Epithelioid angiomyolipoma of the liver in a patient with Li-Fraumeni syndrome: a case report.

Published in:

Diagnostic Pathology, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13000-023-01418-5

By:

Yang, Yaewon;
Lee, Jisun;
Woo, Chang Gok;
Lee, Ok-Jun;
Son, Seung-Myoung

Publication type:

Article

Comprehensive genomic profiling of a unique liposarcoma arising in a patient with Li–Fraumeni syndrome and the novel detection of c-myc amplification: a case report.

Published in:

2022

By:

Watanabe, Hirofumi;
Fujishima, Fumiyoshi;
Motoi, Toru;
Aoyama, Yayoi;
Niihori, Tetsuya;
Takahashi, Masanobu;
Umegaki, Sho;
Oishi, Hisashi;
Tada, Hiroshi;
Ichinohasama, Ryo;
Sasano, Hironobu

Publication type:

Case Study

Pleomorphic carcinoma of the lung arising in a patient with Li-Fraumeni syndrome: Report of a case.

Published in:

Surgery Today, 2011, v. 41, n. 6, p. 841, doi. 10.1007/s00595-010-4359-0

By:

KATO, TATSUYA;
ISHIKAWA, KEIDAI;
SATOH, MASAAKI;
KONDO, SATOSHI;
KAJI, MITSUHITO

Publication type:

Article

Unaffected Li-Fraumeni Syndrome Carrier Parent Demonstrates Allele-Specific mRNA Stabilization of Wild-Type TP53 Compared to Affected Offspring.

Published in:

Genes, 2022, v. 13, n. 12, p. 2302, doi. 10.3390/genes13122302

By:

Buzby, Jeffrey S.;
Williams, Shirley A.;
Nugent, Diane J.

Publication type:

Article