Works matching Li-Fraumeni syndrome (LFS)

Results: 245

The Li-Fraumeni syndrome (LFS): a model for the initiation of p53 signatures in the distal Fallopian tube.

Published in:

Journal of Pathology, 2010, v. 220, n. 1, p. 17, doi. 10.1002/path.2624

By:

Xian, Wa;
Miron, Alexander;
Roh, Michael;
Semmel, Dana R;
Yassin, Yosuf;
Garber, Judy;
Oliva, Esther;
Goodman, Annekathryn;
Mehra, Karishma;
Berkowitz, Ross S;
Crum, Christopher P;
Quade, Bradley J

Publication type:

Article

Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes.

Published in:

Psycho-Oncology, 2011, v. 20, n. 6, p. 631, doi. 10.1002/pon.1951

By:

Lammens, C. R. M.;
Bleiker, E. M. A.;
Verhoef, S.;
Ausems, M. G. E. M.;
Majoor‐Krakauer, D.;
Sijmons, R. H.;
Hes, F. J.;
Gómez‐García, E. B.;
Van Os, T. A. M.;
Spruijt, L.;
van der Luijt, R. B.;
van den Ouweland, A. M. W.;
Ruijs, M. W. G.;
Gundy, C.;
Nagtegaal, T.;
Aaronson, N. K.

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

Choroid Plexus Carcinomas With TP53 Germline Mutations: Management and Outcome.

Published in:

Frontiers in Oncology, 2021, v. 11, p. 1, doi. 10.3389/fonc.2021.751784

By:

Li, Yanong;
Liu, Hailong;
Li, Tandy;
Feng, Jin;
He, Yanjiao;
Chen, Li;
Li, Chunde;
Qiu, Xiaoguang

Publication type:

Article

Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li-Fraumeni Syndrome.

Published in:

Journal of Genetic Counseling, 2016, v. 25, n. 3, p. 529, doi. 10.1007/s10897-015-9905-x

By:

Peters, June;
Kenen, Regina;
Bremer, Renee;
Givens, Shannon;
Savage, Sharon;
Mai, Phuong

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

Pleomorphic dermal sarcoma presenting in a child with Li‐Fraumeni syndrome: A case report and review of the literature.

Published in:

Pediatric Dermatology, 2024, v. 41, n. 2, p. 311, doi. 10.1111/pde.15452

By:

Kim, Heeyeon;
Noh, Hyungrye;
Shim, Joonho;
Oh, Se Jin;
Lee, Jong Hee;
Lee, Dong‐Youn;
Park, Ji Hye

Publication type:

Article

Apparently ' BRCA-Related' Breast and Ovarian Cancer Patient With Germline TP53 Mutation.

Published in:

Breast Journal, 2011, v. 17, n. 4, p. 409, doi. 10.1111/j.1524-4741.2011.01088.x

By:

Janavičius, Ramūnas;
Andrėkutė, Kristina;
Mickys, Ugnius;
Rudaitis, Vilius;
Brasiūnienė, Birutė;
Griškevičius, Laimonas

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

Cell-free DNA from germline TP53 mutation carriers reflect cancer-like fragmentation patterns.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-51529-w

By:

Wong, Derek;
Tageldein, Maha;
Luo, Ping;
Ensminger, Erik;
Bruce, Jeffrey;
Oldfield, Leslie;
Gong, Haifan;
Fischer, Nicholas William;
Laverty, Brianne;
Subasri, Vallijah;
Davidson, Scott;
Khan, Reem;
Villani, Anita;
Shlien, Adam;
Kim, Raymond H.;
Malkin, David;
Pugh, Trevor J.

Publication type:

Article

Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-022-35727-y

By:

Light, Nicholas;
Layeghifard, Mehdi;
Attery, Ayush;
Subasri, Vallijah;
Zatzman, Matthew;
Anderson, Nathaniel D.;
Hatkar, Rupal;
Blay, Sasha;
Chen, David;
Novokmet, Ana;
Fuligni, Fabio;
Tran, James;
de Borja, Richard;
Agarwal, Himanshi;
Waldman, Larissa;
Abegglen, Lisa M.;
Albertson, Daniel;
Finlay, Jonathan L.;
Hansford, Jordan R.;
Behjati, Sam

Publication type:

Article

Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families.

Published in:

Breast Cancer Research & Treatment, 2008, v. 108, n. 3, p. 399, doi. 10.1007/s10549-007-9608-6

By:

Suzanna Arcand;
Parviz Ghadirian;
André Robidoux;
Chantal Perret;
Phil Zhang;
Eve Fafard;
Steven Narod

Publication type:

Article

The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-63

By:

Silva, Amanda G.;
Krepischi, Ana C. V.;
Pearson, Peter L.;
Hainaut, Pierre;
Rosenberg, Carla;
Achatz, Maria Isabel

Publication type:

Article

The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations.

Published in:

2014

By:

Silva, Amanda G;
Krepischi, Ana Cv;
Pearson, Peter L;
Hainaut, Pierre;
Rosenberg, Carla;
Achatz, Maria Isabel;
Krepischi, Ana C V

Publication type:

journal article

Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma.

Published in:

2013

By:

Raymond VM;
Else T;
Everett JN;
Long JM;
Gruber SB;
Hammer GD;
Raymond, Victoria M;
Else, Tobias;
Everett, Jessica N;
Long, Jessica M;
Gruber, Stephen B;
Hammer, Gary D

Publication type:

journal 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

Sarcomas in TP53 germline mutation carriers.

Published in:

Cancer (0008543X), 2012, v. 118, n. 5, p. 1387, doi. 10.1002/cncr.26390

By:

Ognjanovic, Simona;
Olivier, Magali;
Bergemann, Tracy L.;
Hainaut, Pierre

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

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

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

A Case of Synchronous Malignancy with Novel Missense Mutation in a Child: Is This Li-Fraumeni Syndrome or a Novel Case Masquerading as Li-Fraumeni Syndrome??

Published in:

Indian Journal of Medical & Paediatric Oncology, 2020, v. 41, n. 5, p. 777, doi. 10.4103/ijmpo.ijmpo_202_20

By:

Raj, Vinod;
Redkar, Rajeev;
Tewari, Shruti;
Bangar, Anant;
Kanakia, Swati

Publication type:

Article

22. Li-Fraumeni Syndrome, including Li-Fraumeni-Like Syndrome.

Published in:: JNCI: Journal of the National Cancer Institute, 2008, n. 38, p. 48
Publication type:: Article

Myelodysplastic Syndromes Arising in Patients With Germline TP53 Mutation and Li-Fraumeni Syndrome.

Published in:

Archives of Pathology & Laboratory Medicine, 2010, v. 134, n. 7, p. 1010, doi. 10.5858/2009-0015-oa.1

By:

Talwalkar, Sameer S.;
Yin, C. Cameron;
Naeem, Rizwan C.;
Hicks, M. John;
Strong, Louise C.;
Abruzzo, Lynne V.

Publication type:

Article

Reproduction and Genetic Responsibility: An Interpretive Description of Reproductive Decision-Making for Young People With Li-Fraumeni Syndrome.

Published in:

Qualitative Health Research, 2022, v. 32, n. 1, p. 168, doi. 10.1177/10497323211046240

By:

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

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

Expression Profiling Identifies Three Pathways Altered in Cellular Immortalization: Interferon, Cell Cycle, and Cytoskeleton.

Published in:

Journals of Gerontology Series A: Biological Sciences & Medical Sciences, 2006, v. 61, n. 9, p. 879, doi. 10.1093/gerona/61.9.879

By:

Fridman, Aviva Levine;
Lin Tang;
Kulaeva, Olga I.;
Bin Ye;
Qunfang Li;
Nahhas, Fatimah;
Roberts, Paul C.;
Land, Susan J.;
Abrams, Judith;
Tainsky, Michael A.

Publication type:

Article

Suspected Germline TP53 Variants and Clonal Hematopoiesis of Indeterminate Potential: Lessons Learned From a Molecular Tumor Board.

Published in:

Oncologist, 2023, v. 28, n. 7, p. 624, doi. 10.1093/oncolo/oyad105

By:

Xavier, Camila B;
Link, Rudinei;
Abreu, Leonília;
Bettoni, Fabiana;
Marson, Fabiane;
Galante, Pedro A F;
Masotti, Cibele;
Amano, Mariane T;
Molla, Vinicius de;
Camargo, Anamaria A;
Asprino, Paula F;
Sabbaga, Jorge

Publication type:

Article

"I can control what I do with my daily life": Occupational experiences of adolescents and young adults with Li-Fraumeni Syndrome.

Published in:

Journal of Occupational Science, 2023, v. 30, n. 4, p. 661, doi. 10.1080/14427591.2022.2050785

By:

Sleight, Alix G.;
Rising, Camella J.;
Boyd, Patrick;
Wilsnack, Catherine;
Goodfellow, Margaret;
Khincha, Payal P.;
Werner-Lin, Allison

Publication type:

Article

Disclosure of Genetic Risk: When Genetic Relatives Are Not Family Members.

Published in:

American Journal of Bioethics, 2018, v. 18, n. 7, p. 77, doi. 10.1080/15265161.2018.1478037

By:

Gabriel, Jazmine L.;
Jankowski, Jane

Publication type:

Article

Assessing Duty to Warn in Donated Embryos.

Published in:

American Journal of Bioethics, 2018, v. 18, n. 7, p. 75, doi. 10.1080/15265161.2018.1478038

By:

Allyse, Megan;
Rust, Laura

Publication type:

Article

Optimizing shared decision-making for risk-reducing mastectomy in women with Li–Fraumeni syndrome using patient-reported outcome measures.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-89068-z

By:

Polidorio, Natalia;
Sandoval, Renata L.;
Bioni, Pâmela;
Pisani, Janina;
Achatz, Maria I.

Publication type:

Article

Heterogeneity of Li-Fraumeni Syndrome links to unequal gain-of-function effects of p53 mutations.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep04223

By:

Jie Xu;
Jin Qian;
Ye Hu;
Jilin Wang;
Xiaolin Zhou;
Haoyan Chen;
Jing-Yuan Fang

Publication type:

Article

LncRNA H19 Suppresses Osteosarcomagenesis by Regulating snoRNAs and DNA Repair Protein Complexes.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.611823

By:

Xu, An;
Huang, Mo-Fan;
Zhu, Dandan;
Gingold, Julian A.;
Bazer, Danielle A.;
Chang, Betty;
Wang, Donghui;
Lai, Chien-Chen;
Lemischka, Ihor R.;
Zhao, Ruiying;
Lee, Dung-Fang

Publication type:

Article

Melanoma and Li−Fraumeni syndrome: family history is not essential for screening recommendation.

Published in:

Clinical & Experimental Dermatology, 2021, v. 46, n. 8, p. 1567, doi. 10.1111/ced.14748

By:

Regan, H.;
Marren, P.

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

Pan-cancer multi-omic model of LINE-1 activity reveals locus heterogeneity of retrotransposition efficiency.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-57271-1

By:

Solovyov, Alexander;
Behr, Julie M.;
Hoyos, David;
Banks, Eric;
Drong, Alexander W.;
Thornlow, Bryan;
Zhong, Jimmy Z.;
Garcia-Rivera, Enrique;
McKerrow, Wilson;
Chu, Chong;
Arisdakessian, Cedric;
Zaller, Dennis M.;
Kamihara, Junne;
Diao, Liyang;
Fromer, Menachem;
Greenbaum, Benjamin D.

Publication type:

Article

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

Caspase Activation and Aberrant Cell Growth in a p53<sup>+/+</sup> Cell Line from a Li-Fraumeni Syndrome Family.

Published in:

Genetics Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/789201

By:

Sherif, Zaki A.

Publication type:

Article

Li-Fraumeni Syndrome with Unusual Synchronous Malignancies: A Case Report.

Published in:

2024

By:

Al Mansor, Essa;
Adamiak, Anna;
Asmis, Timothy

Publication type:

Case Study

"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

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

A Novel TP53 Germline Mutation in a Family with a History of Multiple Malignancies: Case Report and Review of the Literature.

Published in:

Pediatric Neurosurgery, 2009, v. 44, n. 6, p. 501, doi. 10.1159/000187125

By:

Agarwalla, Pankaj K.;
Dunn, Ian F.;
Turner, Christopher D.;
Ligon, Keith L.;
Schneider, Katherine A.;
Smith, Edward R.

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

Radiation therapy and secondary malignancy in Li‐Fraumeni syndrome: A hereditary cancer registry study.

Published in:

Cancer Medicine, 2020, v. 9, n. 21, p. 7954, doi. 10.1002/cam4.3427

By:

Hendrickson, Peter G.;
Luo, Yukun;
Kohlmann, Wendy;
Schiffman, Josh;
Maese, Luke;
Bishop, Andrew J.;
Lloyd, Shane;
Kokeny, Kristine E.;
Hitchcock, Ying J.;
Poppe, Matthew M.;
Gaffney, David K.;
Tao, Randa

Publication type:

Article

Functional evaluation of germline TP53 variants identified in Brazilian families at-risk for Li–Fraumeni syndrome.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-67810-3

By:

Abreu, Renata B. V.;
Pereira, Ariane S.;
Rosa, Marcela N.;
Ashton-Prolla, Patricia;
Silva, Viviane A. O.;
Melendez, Matias E.;
Palmero, Edenir I.

Publication type:

Article

A Functional Precision Medicine Pipeline Combines Comparative Transcriptomics and Tumor Organoid Modeling to Identify Bespoke Treatment Strategies for Glioblastoma.

Published in:

Cells (2073-4409), 2021, v. 10, n. 12, p. 3400, doi. 10.3390/cells10123400

By:

Reed, Megan R.;
Lyle, A. Geoffrey;
De Loose, Annick;
Maddukuri, Leena;
Learned, Katrina;
Beale, Holly C.;
Kephart, Ellen T.;
Cheney, Allison;
van den Bout, Anouk;
Lee, Madison P.;
Hundley, Kelsey N.;
Smith, Ashley M.;
DesRochers, Teresa M.;
Vibat, Cecile Rose T.;
Gokden, Murat;
Salama, Sofie;
Wardell, Christopher P.;
Eoff, Robert L.;
Vaske, Olena M.;
Rodriguez, Analiz

Publication type:

Article

ATP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 11, p. 591, doi. 10.1007/s10038-004-0193-9

By:

Kim, Il-Jin;
Kang, Hio;
Shin, Yong;
Park, Hye-Won;
Jang, Sang-Geun;
Han, Song-Yee;
Lim, Sun-Kyung;
Lee, Min;
Chang, Hee;
Ku, Ja-Lok;
Yang, Han-Kwang;
Park, Jae-Gahb

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

Síndrome de Li-Fraumeni: Presentación metacrónica de sarcoma de tejidos blandos, sarcoma cardiaco y cáncer gástrico.

Published in:

Acta Medica Colombiana, 2022, v. 47, n. 1, p. 1, doi. 10.36104/amc.2022.2198

By:

SOLIER INSUASTY-ENRÍQUEZ, JESÚS;
ORTEGA-APRÁEZ, VALERIA;
JAVIER ARIAS-QUIROZ, EDUARDO;
LILIANA ALARCÓN-TARAZONA, MARTHA;
ALBERTO CALDERÓN-CORTÉS, CARLOS

Publication type:

Article