Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 116 Records) |
Query Trace: Li-Fraumeni Syndrome and TP53[original query] |
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Germline Cancer Predisposition Variants in?Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. Journal of the National Cancer Institute 2020 12 113 (7): 875-883. 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, Lupo Philip |
Molecular diagnosis and clinical outcome of a lung cancer patient with TP53-E285K mutated Li-Fraumeni syndrome harboring a somatic EGFR-KDD mutation. American journal of translational research 2020 11 12 (10): 6689-6693. Yang Dafu, Han Xue, Li Dan, Cui Saiqiong, Liu Sisi, Wu Xue, Dai Zhaox |
TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes. Gut 2020 10 70 (6): 1139-1146. Terradas Mariona, Mur Pilar, Belhadj Sami, Woodward Emma R, Burghel George J, Munoz-Torres Pau M, Quintana Isabel, Navarro Matilde, Brunet Joan, Lazaro Conxi, Pineda Marta, Moreno Victor, Capella Gabriel, Evans D Gareth R, Valle Lau |
In search of TP53 mutational hot spots for Li-Fraumeni syndrome in Asian populations. Tropical medicine & international health : TM & IH 2021 9 26 (11): 1401-1410. Lo Piccolo Luca, Jantrapirom Salinee, Moonmuang Sutpirat, Teeyakasem Pimpisa, Pasena Arnat, Suksakit Pathacha, Charoenkwan Pimlak, Pruksakorn Dumnoensun, Koonrungsesomboon N |
An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy. Human mutation 2021 7 42 (10): 1351-1361. Fortuno Cristina, Pesaran Tina, Dolinsky Jill, Yussuf Amal, McGoldrick Kelly, Tavtigian Sean V, Goldgar David, Spurdle Amanda B, James Paul |
Identification of the TP53 p.R337H Variant in Tumor Genomic Profiling Should Prompt Consideration of Germline Testing for Li-Fraumeni Syndrome. JCO global oncology 2021 7 7 1141-1150. Sandoval Renata Lazari, Masotti Cibele, de Macedo Mariana Petaccia, Ribeiro Maurício Fernando Silva Almeida, Leite Ana Carolina Rathsam, Meireles Sibele Inacio, Bovolin Rodrigo Medeiros, Santini Fernando Costa, Munhoz Rodrigo Ramella, Jardim Denis Leonardo Fontes, Katz Artur, Camargo Anamaria Aranha, Fernandes Gustavo Dos Santos, Achatz Maria Isab |
A Novel Germline TP53 Mutation in a Patient With Li-Fraumeni Syndrome: Resolving a Variant of Uncertain Significance. Journal of pediatric hematology/oncology 2021 2 43 (8): e1220-e1222. Douglass David P, Stine Kimo C, Farrar Jason |
Inherited TP53 Variants and Risk of Prostate Cancer. European urology 2021 12 81 (3): 243-250. Maxwell Kara N, Cheng Heather H, Powers Jacquelyn, Gulati Roman, Ledet Elisa M, Morrison Casey, Le Anh, Hausler Ryan, Stopfer Jill, Hyman Sophie, Kohlmann Wendy, Naumer Anne, Vagher Jennie, Greenberg Samantha E, Naylor Lorraine, Laurino Mercy, Konnick Eric Q, Shirts Brian H, AlDubayan Saud H, Van Allen Eliezer M, Nguyen Bastien, Vijai Joseph, Abida Wassim, Carlo Maria I, Dubard-Gault Marianne, Lee Daniel J, Maese Luke D, Mandelker Diana, Montgomery Bruce, Morris Michael J, Nicolosi Piper, Nussbaum Robert L, Schwartz Lauren E, Stadler Zsofia, Garber Judy E, Offit Kenneth, Schiffman Joshua D, Nelson Peter S, Sartor Oliver, Walsh Michael F, Pritchard Colin |
Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity. Genetics in medicine : official journal of the American College of Medical Genetics 2021 12 24 (3): 673-680. Fortuno Cristina, McGoldrick Kelly, Pesaran Tina, Dolinsky Jill, Hoang Lily, Weitzel Jeffrey N, Beshay Victoria, San Leong Huei, James Paul A, Spurdle Amanda |
Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients. Hereditary cancer in clinical practice 2021 12 19 (1): 49. Siraj Abdul Khalid, Masoodi Tariq, Bu Rong, Parvathareddy Sandeep Kumar, Iqbal Kaleem, Azam Saud, Al-Rasheed Maha, Ajarim Dahish, Tulbah Asma, Al-Dayel Fouad, Al-Kuraya Khawla Sa |
Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis. JAMA oncology 2021 10 7 (12): 1800-1805. Kratz Christian P, Freycon Claire, Maxwell Kara N, Nichols Kim E, Schiffman Joshua D, Evans D Gareth, Achatz Maria I, Savage Sharon A, Weitzel Jeffrey N, Garber Judy E, Hainaut Pierre, Malkin Dav |
Unusual course of disease and genetic profile in Li-Fraumeni syndrome-associated osteosarcoma - a case report. Hereditary cancer in clinical practice 2021 10 19 (1): 44. Puzik Alexander, Uhl Markus, Ruf Juri, Schumacher Tilmann, Kontny U |
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 |
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 |
Challenges in Interpreting TP53 Pathogenic Variants With a Low Minor Allele Frequency in Germline Genetic Testing: A Case Report of a Patient With Mosaic Li-Fraumeni Syndrome. JCO precision oncology 2022 1 4 91-95. Peacock Ellie G, Grenon Lindsey M, Batalini Felipe, Tung Nadi |
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 |
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 |
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 |
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 |
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- Page last updated:May 06, 2024
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