Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 147 Records) |
| Query Trace: Li-fraumeni syndrome[original query] |
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| Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry. Journal of hematology & oncology 2022 8 15 (1): 107. 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, Nees Juliane, Prokop Aram, Redlich Antje, Seidel Markus G, Zimmermann Stefanie, Pajtler Kristian W, Pfister Stefan M, Hainaut Pierre, Kratz Christian |
| Distinct NSCLC EGFR Variants in a Family With Li-Fraumeni Syndrome: Case Report. JTO clinical and research reports 2022 7 3 (8): 100368. Edmondson Shelby, von Itzstein Mitchell S, Reys Brian, Mayer Melissa, Gagan Jeffrey, Gerber David |
| TP53 Pathogenic Variants in Early-Onset Breast Cancer Patients Fulfilling Hereditary Breast and Ovary Cancer and Li-Fraumeni-like Syndromes. Biomolecules 2022 5 12 (5): . 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 Pau |
| Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched by TP53 p.R337H Carriers. Frontiers in oncology 2022 4 12 836937. 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 Isab |
| Differential Gain-of-Function Activity of Three p53 Hotspot Mutants In Vivo. Cancer research 2022 3 82 (10): 1926-1936. Xiong Shunbin, Chachad Dhruv, Zhang Yun, Gencel-Augusto Jovanka, Sirito Mario, Pant Vinod, Yang Peirong, Sun Chang, Chau Gilda, Qi Yuan, Su Xiaoping, Whitley Elizabeth M, El-Naggar Adel K, Lozano Guillermi |
| Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation. Genes 2022 2 13 (2): . Vietri Maria Teresa, D'Elia Giovanna, Caliendo Gemma, Albanese Luisa, Signoriello Giuseppe, Napoli Claudio, Molinari Anna Mar |
| Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit. International journal of clinical oncology 2022 Feb . Escudero Adela, Ferreras Cristina, Rodriguez-Salas Nuria, Corral Dolores, Rodriguez Laura, Pérez-Martínez Anton |
| Molecular heterogeneity of pediatric choroid plexus carcinomas determines the distinctions in clinical course and prognosis. Neuro-oncology 2022 12 . Zaytseva Margarita, Valiakhmetova Andge, Yasko Ludmila, Samarin Alexey, Papusha Ludmila, Shekhtman Anastasia, Usman Natalia, Voronin Kirill, Karachunsky Alexander, Novichkova Galina, Druy Alexand |
| Pediatric adrenocortical carcinoma. Frontiers in endocrinology 2022 11 13 961650. Ilanchezhian Maran, Varghese Diana Grace, Glod John W, Reilly Karlyne M, Widemann Brigitte C, Pommier Yves, Kaplan Rosandra N, Del Rivero Jaydi |
| A novel germline mutation of TP53 with breast cancer diagnosed as Li-Fraumeni syndrome. Surgical case reports 2022 10 8 (1): 197. 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 Masafu |
| Challenging interpretation of germline TP53 variants based on the experience of a national comprehensive cancer centre. Scientific reports 2023 8 13 (1): 14259. Henriett Butz, Anikó Bozsik, Vince Grolmusz, Erika Sz?cs, János Papp, Attila Pató |
| A systematic review of the prevalence of pathogenic or likely pathogenic germline variants in individuals with FOXO1 fusion-positive rhabdomyosarcoma. Pediatric blood & cancer 2023 8 e30651. Claire Freycon, Philip J Lupo, Leora Witkowski, Crystal Budd, William D Foulkes, Catherine Goud |
| Sex-Specific Associations of MDM2 and MDM4 Variants with Risk of Multiple Primary Melanomas and Melanoma Survival in Non-Hispanic Whites. Cancers 2023 6 15 (10): . Sarah V Ward, Isidora Autuori, Li Luo, Emily LaPilla, Sarah Yoo, Ajay Sharma, Klaus J Busam, David W Olilla, Terence Dwyer, Hoda Anton-Culver, Roberto Zanetti, Lidia Sacchetto, Anne E Cust, Richard P Gallagher, Peter A Kanetsky, Stefano Rosso, Colin B Begg, Marianne Berwick, Nancy E Thomas, Irene Orlow, |
| SEOM clinical guideline on heritable TP53-related cancer syndrome (2022). Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2023 5 . Ana Beatriz Sánchez-Heras, Teresa Ramon Y Cajal, Marta Pineda, Elena Aguirre, Begoña Graña, Isabel Chirivella, Judit Balmaña, Joan Brunet, |
| TP53 c.455C>T p.(Pro152Leu) pathogenic variant is a lower risk allele with attenuated risks of breast cancer and sarcoma. Journal of medical genetics 2023 4 . D Gareth Evans, Elaine F Harkness, Emma R Woodwa |
| Li-Fraumeni-associated pancreatic neuroendocrine tumour and XAF1 p.Glu134Ter risk modifier variant. Ecancermedicalscience 2023 2 16 1487. Riechelmann Rachel P, Soares Diogo C, Dias Carla, Carraro Dirce M, Torrezan Giovana |
| Functional pri-miR-34b/c rs4938723 and KRAS 3'UTR rs61764370 SNPs: novel phenotype modifiers in Li-Fraumeni syndrome? Gene 2023 12 148069. Igor Araujo Vieira, Eduarda Heidrich Pezzi, Isabel Cristina Bandeira, Larissa Brussa Reis, Yasminne Marinho de Araújo Rocha, Bruna Vieira Fernandes, Marina Siebert, Kendi Nishino Miyamoto, Monique Banik Siqueira, Maria Isabel Achatz, Henrique de Campos Reis Galvão, Felipe Antonio O Garcia, Natalia Campacci, Dirce Maria Carraro, Maria Nirvana Formiga, Fernanda Sales Luiz Vianna, Edenir Inez Palmero, Gabriel S Macedo, Patricia Ashton-Prol |
| The evaluation of the possibility of Li-Fraumeni syndrome in cancer patients in East Azarbaijan Province of Iran. Nucleosides, nucleotides & nucleic acids 2023 10 1-10. Maryam Esmaeilzadeh Aghjeh, Mohammad Ali Hosseinpour Feizi, Reza Safaralizadeh, Abbas Ali Hosseinpour Feizi, Nasser Poula |
| Germline variant affecting p53? isoforms predisposes to familial cancer. Nature communications 2024 9 15 (1): 8208. Stephanie A Schubert, Dina Ruano, Sebastien M Joruiz, Jordy Stroosma, Nikolina Glavak, Anna Montali, Lia M Pinto, Mar Rodríguez-Girondo, Daniela Q C M Barge-Schaapveld, Maartje Nielsen, Bernadette P M van Nesselrooij, Arjen R Mensenkamp, Monique E van Leerdam, Thomas H Sharp, Hans Morreau, Jean-Christophe Bourdon, Noel F C C de Miranda, Tom van Wez |
| The Impact of Li Fraumeni and Germline Retinoblastoma Mutations on Leiomyosarcoma Initiation, Outcomes and Genetic Testing Recommendations. Clinical cancer research : an official journal of the American Association for Cancer Research 2024 8 . Josephine K Dermawan, David H Abramson, Sarah Chiang, Martee L Hensley, William D Tap, Sujana Movva, Robert G Maki, Diana Mandelker, Cristina R Antones |
| Ocular adnexal sebaceous carcinoma in a patient with Li-Fraumeni syndrome. Orbit (Amsterdam, Netherlands) 2024 7 1-5. Chia W Hsu, Cornelia W Peterson, Charles G Eberhart, Christian F Meyer, Deborah K Armstrong, Katie Fiallos, Ashley A Campbe |
| TP53 p.R337H Germline Variant among Women at Risk of Hereditary Breast Cancer in a Public Health System of Midwest Brazil. Genes 2024 7 15 (7): . Tatiana Strava Corrêa, Paula Fontes Asprino, Eduarda Sabá Cordeiro de Oliveira, Ana Carolina Rathsam Leite, Luiza Weis, Maria Isabel Achatz, Claudiner Pereira de Oliveira, Renata Lazari Sandoval, Romualdo Barroso-Sou |
| Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence. Journal of the National Cancer Institute 2024 5 . Minjie Luo, Derek Wong, Kristin Zelley, Jinhua Wu, Jeffery Schubert, Elizabeth H Denenberg, Elizabeth A Fanning, Jiani Chen, Daniel Gallo, Netta Golenberg, Maha Patel, Laura K Conlin, Kara N Maxwell, Gerald B Wertheim, Lea F Surrey, Yiming Zhong, Garrett M Brodeur, Suzanne P MacFarland, Marilyn M |
| Uncommon molecular alterations in follicular-derived thyroid carcinoma: A single institution study. Pathology, research and practice 2024 5 258 155355. Borislav A Alexiev, Erica R Vormittag-Nocito, Jochen Lorch, Anjana Yeldandi, Paul R Buttars, Lawrence J Jennin |
| Pediatric-type high-grade gliomas with PDGFRA amplification in adult patients with Li-Fraumeni syndrome: clinical and molecular characterization of three cases. Acta neuropathologica communications 2024 4 12 (1): 57. Yuji Kibe, Fumiharu Ohka, Kosuke Aoki, Junya Yamaguchi, Kazuya Motomura, Eiji Ito, Kazuhito Takeuchi, Yuichi Nagata, Satoshi Ito, Nobuhiko Mizutani, Yoshiki Shiba, Sachi Maeda, Tomohide Nishikawa, Hiroki Shimizu, Ryuta Sai |
| Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome. iScience 2024 12 27 (12): 111296. Emilie Montellier, Nathanaël Lemonnier, Judith Penkert, Claire Freycon, Sandrine Blanchet, Amina Amadou, Florent Chuffart, Nicholas W Fischer, Maria-Isabel Achatz, Arnold J Levine, Catherine Goudie, David Malkin, Gaëlle Bougeard, Christian P Kratz, Pierre Haina |
| TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers. Journal of the National Cancer Institute 2024 12 . Suhair Lolas-Hamameh, Sari Lieberman, Alaa Sarahneh, Tom Walsh, Ming K Lee, Suleyman Gulsuner, Grace Rabie, Rachel Beeri, Amal Aburayyan, Jessica B Mandell, Hila Fridman, Galit Lazer-Derbeko, Tehila Klopstock, Orit Freireich, Amnon Lahad, Mary-Claire King, Ephrat Levy-Lahad, Moien N Kana |
| Li-Fraumeni-associated osteosarcomas: The French experience. Pediatric blood & cancer 2024 10 e31362. Emilie Saucier, Gaëlle Bougeard, Anne Gomez-Mascard, Catherine Schramm, Rachid Abbas, Pablo Berlanga, Claire Briandet, Marie-Pierre Castex, Nadège Corradini, Carole Coze, Léa Guerrini-Rousseau, Jean-Marc Guinebretière, Pierre Khneisser, Cyril Lervat, Ludovic Mansuy, Perrine Marec-Berard, Aude Marie-Cardine, Eric Mascard, Laure Saumet, Marie-Dominique Tabone, Sarah Winter, Thierry Frebourg, Nathalie Gaspar, Laurence Brugier |
| Characterisation of heritable TP53-related cancer syndrome in Sweden-a nationwide study of genotype-phenotype correlations in 90 families. European journal of human genetics : EJHG 2025 1 . Meis Omran, Yaxuan Liu, Alexander Sun Zhang, Anna Poluha, Marie Stenmark-Askmalm, Fredrik Persson, Anna-Lotta Hallbeck, Anna Rosén, Hafdis T Helgadottir, Emma Tham, Svetlana Bajalica-Lagercran |
| TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate. Genome medicine 2025 1 17 (1): 3. Paula Rofes, Carmen Castillo-Manzano, Mireia Menéndez, Álex Teulé, Sílvia Iglesias, Elisabet Munté, Mireia Ramos-Muntada, Carolina Gómez, Eva Tornero, Esther Darder, Eva Montes, Laura Valle, Gabriel Capellá, Marta Pineda, Joan Brunet, Lidia Feliubadaló, Jesús Del Valle, Conxi Láza |
- Page last reviewed:Feb 1, 2024
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