Publications:

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Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.

Scientific Reports

Matta, Bruna Palma BP; Gomes, Renan R; Mattos, Daniel D; Olicio, Renata R; Nascimento, Caroline Macedo CM; Ferreira, Gerson Moura GM; Brant, Ayslan Castro AC; Boroni, Mariana M; Furtado, Carolina C; Lima, Valdirene V; Moreira, Miguel Ângelo Martins MÂM; Dos Santos, Anna Cláudia Evangelista ACE

Publication Date: 2022-11-03

Variant appearance in text: TP53: 993+12T>C; rs1800899

PubMed Link: 36329109

Variant Present in the following documents:

• 41598_2022_23012_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Integrative analysis reveals clinically relevant molecular fingerprints in pancreatic cancer.

Molecular Therapy. Nucleic Acids

Song, Libin L; Qi, Simin S; Hu, Wei W; Fang, Zhixiao Z; Yu, Dehua D; Liu, Teng T; Wu, Jingni J; Wu, Yangjun Y; Wu, Aiwei A; Feng, Lanyun L; Xie, Jing J; Zhang, Bo B; He, Wenguang W; Ning, Zhouyu Z; Liu, Luming L; Qin, Jiang-Jiang JJ; Li, Shengli S

Publication Date: 2021-12-03

Variant appearance in text: rs1800899

PubMed Link: 34513290

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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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

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Genotyping data of routinely processed matched primary/metastatic tumor samples.

Data In Brief

Kotoula, Vassiliki V; Chatzopoulos, Kyriakos K; Papadopoulou, Kyriaki K; Giannoulatou, Eleni E; Koliou, Georgia-Angeliki GA; Karavasilis, Vasilios V; Pazarli, Elissavet E; Pervana, Stavroula S; Kafiri, Georgia G; Tsoulfas, Georgios G; Chrisafi, Sofia S; Sgouramali, Helen H; Papakostas, Pavlos P; Pectasides, Dimitrios D; Hytiroglou, Prodromos P; Pentheroudakis, George G; Fountzilas, George G

Publication Date: 2021-02

Variant appearance in text: rs1800899

PubMed Link: 33365374

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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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

Publication Date: 2021-05

Variant appearance in text: rs1800899

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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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

Publication Date: 2021-05

Variant appearance in text: rs1800899

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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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

Publication Date: 2021-01

Variant appearance in text: rs1800899

PubMed Link: 32888145

Variant Present in the following documents:

• Main text
• 12282_2020_Article_1151.pdf

View BVdb publication page

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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

Publication Date: 2020-08-31

Variant appearance in text: TP53: 993+12T>C

PubMed Link: 32867815

Variant Present in the following documents:

• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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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

Publication Date: 2020-04-01

Variant appearance in text: rs1800899

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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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

Publication Date: 2019-08-30

Variant appearance in text: rs1800899

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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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

Publication Date: 2019-08

Variant appearance in text: TP53: 993+12T>C

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1

View BVdb publication page

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Clinical aspects of TP53 gene inactivation in diffuse large B-cell lymphoma.

Bmc Medical Genomics

Voropaeva, Elena N EN; Pospelova, Tatyana I TI; Voevoda, Mikhail I MI; Maksimov, Vladimir N VN; Orlov, Yuriy L YL; Seregina, Olga B OB

Publication Date: 2019-03-13

Variant appearance in text: rs1800899

PubMed Link: 30871527

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

PubMed Link: 30816478

Variant Present in the following documents:

• Main text
• mmr-19-04-2781.pdf

View BVdb publication page

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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

PubMed Link: 30796655

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Publication Date: 2019-03

Variant appearance in text: rs1800899

PubMed Link: 30737087

Variant Present in the following documents:

• mmc1.xlsx, sheet 9

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs1800899

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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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

Publication Date: 2018-04-16

Variant appearance in text: rs1800899

PubMed Link: 29661169

Variant Present in the following documents:

• 12885_2018_4304_MOESM7_ESM.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: TP53: 993+12T>C

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget

Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-01-31

Variant appearance in text: rs1800899

PubMed Link: 28002797

Variant Present in the following documents:

• oncotarget-08-7852-s002.xlsx, sheet 1

View BVdb publication page

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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

PubMed Link: 27223485

Variant Present in the following documents:

• Main text
• 1415-4757-gmb-1678-4685-GMB-2014-0363.pdf

View BVdb publication page

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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

PubMed Link: 25925845

Variant Present in the following documents:

• Main text
• 12881_2015_Article_169.pdf

View BVdb publication page

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Diffuse large B-cell lymphoma with combined TP53 mutation and MIR34A methylation: Another "double hit" lymphoma with very poor outcome?

Oncotarget

Asmar, Fazila F; Hother, Christoffer C; Kulosman, Gorjan G; Treppendahl, Marianne Bach MB; Nielsen, Helene Myrtue HM; Ralfkiaer, Ulrik U; Pedersen, Anja A; Møller, Michael Boe MB; Ralfkiaer, Elisabeth E; de Nully Brown, Peter P; Grønbæk, Kirsten K

Publication Date: 2014-04-15

Variant appearance in text: TP53: 993+12T>C

PubMed Link: 24722400

Variant Present in the following documents:

• oncotarget-05-1912-s001.pdf

View BVdb publication page

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Assessment of TP53 mutations in benign and malignant salivary gland neoplasms.

Plos One

Gomes, Carolina Cavaliéri CC; Diniz, Marina Gonçalves MG; Orsine, Lissur Azevedo LA; Duarte, Alessandra Pires AP; Fonseca-Silva, Thiago T; Conn, Brendan I BI; De Marco, Luiz L; Pereira, Cláudia Maria CM; Gomez, Ricardo Santiago RS

Publication Date: 2012

Variant appearance in text: rs1800899

PubMed Link: 22829934

Variant Present in the following documents:

• Main text
• pone.0041261.pdf

View BVdb publication page

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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

Publication Date: 2011

Variant appearance in text: TP53: 993+12T>C

PubMed Link: 22216294

Variant Present in the following documents:

View BVdb publication page

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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

Publication Date: 2009-04

Variant appearance in text: rs1800899

PubMed Link: 19252504

Variant Present in the following documents:

• NIHMS92733-supplement-1.pdf

View BVdb publication page

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