Works matching Li-Fraumeni syndrome

Results: 706

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 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Li-Fraumeni Syndrome : Current Strategies and Future Perspectives.

Published in:

Journal of Korean Neurosurgical Society, 2025, v. 68, n. 3, p. 305, doi. 10.3340/jkns.2025.0050

By:

Lee, Ji Won

Publication type:

Article

Ocular adnexal sebaceous carcinoma in a patient with Li-Fraumeni syndrome.

Published in:

Orbit, 2025, v. 44, n. 3, p. 321, doi. 10.1080/01676830.2024.2382268

By:

Hsu, Chia W.;
Peterson, Cornelia W.;
Eberhart, Charles G.;
Meyer, Christian F.;
Armstrong, Deborah K.;
Fiallos, Katie;
Campbell, Ashley A.

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

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

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

Li Fraumeni syndrome, cancer and senescence: a new hypothesis.

Published in:

Cancer Cell International, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1475-2867-13-35

By:

Pantziarka, Pan

Publication type:

Article

Li-Fraumeni syndrome with simultaneous osteosarcoma and liver cancer: Increased expression of a CD44 variant isoform after chemotherapy.

Published in:

BMC Cancer, 2012, v. 12, n. 1, p. 444, doi. 10.1186/1471-2407-12-444

By:

Yoshida, Go J.;
Fuchimoto, Yasushi;
Osumi, Tomoo;
Shimada, Hiroyuki;
Hosaka, Seichi;
Morioka, Hideo;
Mukai, Makio;
Masugi, Yohei;
Sakamoto, Michiie;
Kuroda, Tatsuo

Publication type:

Article

Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature.

Published in:

BMC Cancer, 2012, v. 12, n. 1, p. 217, doi. 10.1186/1471-2407-12-217

By:

Kast, Karin;
Krause, Mechthild;
Schuler, Markus;
Friedrich, Katrin;
Thamm, Barbara;
Bier, Andrea;
Distler, Wolfgang;
Krüger, Stefan

Publication type:

Article

Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.

Published in:

BMC Cancer, 2012, v. 12, n. 1, p. 237, doi. 10.1186/1471-2407-12-237

By:

Silva, Amanda Gonçalves;
Ewald, Ingrid Petroni;
Sapienza, Marina;
Pinheiro, Manuela;
Peixoto, Ana;
de Nóbrega, Amanda França;
Carraro, Dirce M.;
Teixeira, Manuel R.;
Ashton-Prolla, Patricia;
Achatz, Maria Isabel W.;
Rosenberg, Carla;
Krepischi, Ana C.V.

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

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

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

A novel germline mutation of TP53 with breast cancer diagnosed as Li–Fraumeni syndrome.

Published in:

2022

By:

Kai, Masaya;
Kubo, Makoto;
Shikada, Sawako;
Hayashi, Saori;
Morisaki, Takafumi;
Yamada, Mai;
Takao, Yuka;
Shimazaki, Akiko;
Harada, Yurina;
Kaneshiro, Kazuhisa;
Mizuuchi, Yusuke;
Shindo, Koji;
Nakamura, Masafumi

Publication type:

Case Study

Melanoma in patients with Li-Fraumeni syndrome (Review).

Published in:

Experimental & Therapeutic Medicine, 2022, v. 23, n. 1, p. N.PAG

By:

Sandru, Florica;
Dumitrascu, Mihai Cristian;
Petca, Aida;
Carsote, Mara;
Petca, Razvan-Cosmin;
Ghemigian, Adina

Publication type:

Article

Laparoscopic resection of liver PEComa associated with Li‑Fraumeni syndrome: A case report.

Published in:

2024

By:

Takada, Ryuji;
Takahashi, Makoto;
Hayashi, Tatsuya;
Higashihara, Taku;
Morita, Yasuhiro;
Inoue, Dai;
Okada, Haruka;
Araki, Junko

Publication type:

Case Study

Characterization of sarcoma topography in Li-Fraumeni syndrome.

Published in:

Frontiers in Oncology, 2024, p. 1, doi. 10.3389/fonc.2024.1415636

By:

Brockman, Karin J.;
Thompson, Mone't B.;
Mirabello, Lisa;
Savage, Sharon A.;
Malayeri, Ashkan;
Hatton, Jessica N.;
Khincha, Payal P.

Publication type:

Article

Osteosarcoma patient with Li-Fraumeni syndrome: the first case report in Vietnam.

Published in:

Frontiers in Oncology, 2024, p. 1, doi. 10.3389/fonc.2024.1458232

By:

Thanh Thien Le;
Tung Sy Ha;
Linh Mai To;
Quang Minh Dang;
Hoa Thi Phuong Bui;
Thanh Duc Tran;
Phuong Thi Vu;
Hoan Bao Giang;
Dung Trung Tran;
Xuan-Hung Nguyen

Publication type:

Article

A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome?

Published in:

Journal of Adolescent & Young Adult Oncology, 2018, v. 7, n. 5, p. 525, doi. 10.1089/jayao.2018.0028

By:

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

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

A Unique Case of Bilateral Thalamic High-Grade Glioma in a Pediatric Patient with LI-Fraumeni Syndrome: Case Presentation and Review of the Literature.

Published in:

Neurology International, 2021, v. 13, n. 2, p. 175, doi. 10.3390/neurolint13020017

By:

Messina, Raffaella;
Cazzato, Gerardo;
Perillo, Teresa;
Stagno, Vita;
Blè, Valeria;
Resta, Mariachiara;
De Leonardis, Francesco;
Santoro, Nicola;
Signorelli, Francesco;
Ingravallo, Giuseppe

Publication type:

Article

Psychosocial interventions and needs among individuals and families with Li‐Fraumeni syndrome: A scoping review.

Published in:

Clinical Genetics, 2022, v. 101, n. 2, p. 161, doi. 10.1111/cge.14042

By:

Barnett, Marie;
Breen, Kelsey E.;
Kennedy, Jennifer A.;
Hernandez, Marisol;
Matsoukas, Konstantina;
MacGregor, Meredith

Publication type:

Article