Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05
Variant appearance in text: TP53: 993+12T>C; rs1800899
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.
Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.
Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population.
Breast Cancer (Tokyo, Japan)
Rogoża-Janiszewska, Emilia E; Malińska, Karolina K; Górski, Bohdan B; Scott, Rodney J RJ; Cybulski, Cezary C; Kluźniak, Wojciech W; Lener, Marcin M; Jakubowska, Anna A; Gronwald, Jacek J; Huzarski, Tomasz T; Lubiński, Jan J; Dębniak, Tadeusz T
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
Journal Of Medical Case Reports
García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C
Genomics of lethal prostate cancer at diagnosis and castration resistance.
The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.
Cold Spring Harbor Molecular Case Studies
Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C
Nucleotide variants and protein expression of TP53 in a Sri Lankan cohort of patients with head and neck cancer.
Molecular Medicine Reports
Manoharan, Vahinipriya V; Karunanayake, Eric Hamilton EH; Tennekoon, Kamani Hemamala KH; De Silva, Sumadee S; De Silva, Kanishka K; Angunawela, Preethika P; Lunec, John J
Publication Date: 2019-04
Variant appearance in text: p53: 993+12T>C; rs1800899
Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors.
Breast Cancer Research And Treatment
Aceto, Gitana Maria GM; Awadelkarim, Khalid Dafaallah KD; Di Nicola, Marta M; Moscatello, Carmelo C; Pantalone, Mattia Russel MR; Verginelli, Fabio F; Elwali, Nasr Eldin NE; Mariani-Costantini, Renato R
Publication Date: 2019-06
Variant appearance in text: TP53: 993+12T>C; rs1800899
Specific V-ATPase expression sub-classifies IDHwt lower-grade gliomas and impacts glioma growth in vivo.
Ebiomedicine
Terrasi, Andrea A; Bertolini, Irene I; Martelli, Cristina C; Gaudioso, Gabriella G; Di Cristofori, Andrea A; Storaci, Alessandra Maria AM; Formica, Miriam M; Bosari, Silvano S; Caroli, Manuela M; Ottobrini, Luisa L; Vaccari, Thomas T; Vaira, Valentina V
RNA-Seq reveals the existence of a CDKN1C-E2F1-TP53 axis that is altered in human T-cell lymphoblastic lymphomas.
Bmc Cancer
López-Nieva, Pilar P; Fernández-Navarro, Pablo P; Vaquero-Lorenzo, Concepción C; Villa-Morales, María M; Graña-Castro, Osvaldo O; Cobos-Fernández, María Ángeles MÁ; López-Lorenzo, José Luis JL; Llamas, Pilar P; González-Sanchez, Laura L; Sastre, Isabel I; Pollan, Marina M; Malumbres, Marcos M; Santos, Javier J; Fernández-Piqueras, José J
Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.
Genetics And Molecular Biology
Palmero, Edenir Inêz EI; Alemar, Bárbara B; Schüler-Faccini, Lavínia L; Hainaut, Pierre P; Moreira-Filho, Carlos Alberto CA; Ewald, Ingrid Petroni IP; Santos, Patricia Koehler Dos PK; Ribeiro, Patricia Lisbôa Izetti PL; Oliveira, Cristina Brinkmann de Netto CB; Calvez-Kelm, Florence Le FL; Tavtigian, Sean S; Cossio, Silvia Liliana SL; Giugliani, Roberto R; Caleffi, Maira M; Ashton-Prolla, Patricia P
Publication Date: 2016-05-24
Variant appearance in text: TP53: 993+12T>C; rs1800899
Germline TP53 mutational spectrum in French Canadians with breast cancer.
Bmc Medical Genetics
Arcand, Suzanna L SL; Akbari, Mohammed R MR; Mes-Masson, Anne-Marie AM; Provencher, Diane D; Foulkes, William D WD; Narod, Steven A SA; Tonin, Patricia N PN
Publication Date: 2015-04-12
Variant appearance in text: TP53: 993+12T>C; rs1800899
Extremely high Tp53 mutation load in esophageal squamous cell carcinoma in Golestan Province, Iran.
Plos One
Abedi-Ardekani, Behnoush B; Kamangar, Farin F; Sotoudeh, Masoud M; Villar, Stephanie S; Islami, Farhad F; Aghcheli, Karim K; Nasrollahzadeh, Dariush D; Taghavi, Noushin N; Dawsey, Sanford M SM; Abnet, Christian C CC; Hewitt, Stephen M SM; Fahimi, Saman S; Saidi, Farrokh F; Brennan, Paul P; Boffetta, Paolo P; Malekzadeh, Reza R; Hainaut, Pierre P
Quantification of rare allelic variants from pooled genomic DNA.
Nature Methods
Druley, Todd E TE; Vallania, Francesco L M FL; Wegner, Daniel J DJ; Varley, Katherine E KE; Knowles, Olivia L OL; Bonds, Jacqueline A JA; Robison, Sarah W SW; Doniger, Scott W SW; Hamvas, Aaron A; Cole, F Sessions FS; Fay, Justin C JC; Mitra, Robi D RD