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: 108G>A; P36=; rs1800370

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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TP53 mutations in functional corticotroph tumors are linked to invasion and worse clinical outcome.

Acta Neuropathologica Communications

Perez-Rivas, Luis Gustavo LG; Simon, Julia J; Albani, Adriana A; Tang, Sicheng S; Roeber, Sigrun S; Assié, Guillaume G; Deutschbein, Timo T; Fassnacht, Martin M; Gadelha, Monica R MR; Hermus, Ad R AR; Stalla, Günter K GK; Tichomirowa, Maria A MA; Rotermund, Roman R; Flitsch, Jörg J; Buchfelder, Michael M; Nasi-Kordhishti, Isabella I; Honegger, Jürgen J; Thorsteinsdottir, Jun J; Saeger, Wolfgang W; Herms, Jochen J; Reincke, Martin M; Theodoropoulou, Marily M

Publication Date: 2022-09-19

Variant appearance in text: rs1800370

PubMed Link: 36123588

Variant Present in the following documents:

• 40478_2022_1437_MOESM1_ESM.pdf

View BVdb publication page

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The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications

Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM

Publication Date: 2022-06-29

Variant appearance in text: TP53: 108G>A

PubMed Link: 35768438

Variant Present in the following documents:

• 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Deciphering the Increased Prevalence of TP53 Mutations in Metastatic Prostate Cancer.

Cancer Informatics

Zhang, Wensheng W; Dong, Yan Y; Sartor, Oliver O; Zhang, Kun K

Publication Date: 2022

Variant appearance in text: TP53: 108G>A

PubMed Link: 35392296

Variant Present in the following documents:

• Main text
• 10.1177_11769351221087046.pdf

View BVdb publication page

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Monitoring of Leukemia Clones in B-cell Acute Lymphoblastic Leukemia at Diagnosis and During Treatment by Single-cell DNA Amplicon Sequencing.

Hemasphere

Meyers, Sarah S; Alberti-Servera, Llucia L; Gielen, Olga O; Erard, Margot M; Swings, Toon T; De Bie, Jolien J; Michaux, Lucienne L; Dewaele, Barbara B; Boeckx, Nancy N; Uyttebroeck, Anne A; De Keersmaecker, Kim K; Maertens, Johan J; Segers, Heidi H; Cools, Jan J; Demeyer, Sofie S

Publication Date: 2022-04

Variant appearance in text: rs1800370

PubMed Link: 35291210

Variant Present in the following documents:

• hs9-6-e700-s004.xlsx, sheet 13
• hs9-6-e700-s004.xlsx, sheet 4

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: TP53: 108G>A; Pro36=; rs1800370

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science

Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K

Publication Date: 2022-04

Variant appearance in text: TP53: 108G>A; P36P; rs1800370

PubMed Link: 35218119

Variant Present in the following documents:

• CAS-113-1451-s002.xlsx, sheet 1

View BVdb publication page

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PD-L1 targeting and subclonal immune escape mediated by PD-L1 mutations in metastatic colorectal cancer.

Journal For Immunotherapy Of Cancer

Stein, Alexander A; Simnica, Donjete D; Schultheiß, Christoph C; Scholz, Rebekka R; Tintelnot, Joseph J; Gökkurt, Eray E; von Wenserski, Lisa L; Willscher, Edith E; Paschold, Lisa L; Sauer, Markus M; Lorenzen, Sylvie S; Riera-Knorrenschild, Jorge J; Depenbusch, Reinhard R; Ettrich, Thomas J TJ; Dörfel, Steffen S; Al-Batran, Salah-Eddin SE; Karthaus, Meinolf M; Pelzer, Uwe U; Waberer, Lisa L; Hinke, Axel A; Bauer, Marcus M; Massa, Chiara C; Seliger, Barbara B; Wickenhauser, Claudia C; Bokemeyer, Carsten C; Hegewisch-Becker, Susanna S; Binder, Mascha M

Publication Date: 2021-07

Variant appearance in text: TP53: 108G>A; Pro36Pro; rs1800370

PubMed Link: 34315821

Variant Present in the following documents:

• jitc-2021-002844supp002.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: 108G>A; Pro36=; rs1800370

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: TP53: 108G>A; rs1800370

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: TP53: 108G>A; rs1800370

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM1_ESM.pdf
• 41418_2020_672_MOESM2_ESM.pdf
• 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: TP53: 108G>A; rs1800370

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM2_ESM.pdf
• 41418_2020_672_MOESM1_ESM.pdf
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Acute Radiation Colitis after Preoperative Short-Course Radiotherapy for Rectal Cancer: A Morphological, Immunohistochemical and Genetic Study.

Cancers

Zanelli, Magda M; Ciarrocchi, Alessia A; De Petris, Giovanni G; Zizzo, Maurizio M; Costantini, Massimo M; Bisagni, Alessandra A; Torricelli, Federica F; Nicoli, Davide D; Ramundo, Dafne D; Ricci, Stefano S; Palicelli, Andrea A; Sanguedolce, Francesca F; Ascani, Stefano S; Castro Ruiz, Carolina C; Annessi, Valerio V; Zamponi, Raffaella R; Bortesi, Mara M; Martino, Veronica V; Marchetti, Marialisa M; De Marco, Loredana L

Publication Date: 2020-09-09

Variant appearance in text: TP53: Pro36Pro

PubMed Link: 32917028

Variant Present in the following documents:

• cancers-12-02571-s001.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: 108G>A; Pro36=

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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Mutation analysis and genomic imbalances of cells found in effusion fluids from patients with ovarian cancer.

Oncology Letters

Brunetti, Marta M; Panagopoulos, Ioannis I; Kostolomov, Ilyá I; Davidson, Ben B; Heim, Sverre S; Micci, Francesca F

Publication Date: 2020-09

Variant appearance in text: TP53: 108G>A; P36P

PubMed Link: 32782545

Variant Present in the following documents:

• Main text

View BVdb publication page

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Both p53 codon 72 Arg/Arg and pro/Arg genotypes in glioblastoma multiforme are associated with a better prognosis in bevacizumab treatment.

Bmc Cancer

Shen, Chiung-Chyi CC; Cheng, Wen-Yu WY; Lee, Chung-Hsin CH; Dai, Xue-Jun XJ; Chiao, Ming-Tsang MT; Liang, Yea-Jiuen YJ; Hsieh, Wan-Yu WY; Mao, Tsuo-Fei TF; Lin, Guo-Shi GS; Chen, Shou-Ren SR; Liu, Bai-Shuan BS; Chen, Jun-Peng JP

Publication Date: 2020-07-29

Variant appearance in text: rs1800370

PubMed Link: 32727419

Variant Present in the following documents:

• Main text
• 12885_2020_Article_7210.pdf

View BVdb publication page

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TP53 p.Arg337His geographic distribution correlates with adrenocortical tumor occurrence.

Molecular Genetics & Genomic Medicine

Seidinger, Ana L AL; Caminha, Isabel P IP; Mastellaro, Maria J MJ; Gabetta, Carmen S CS; Nowill, Alexandre E AE; Pinheiro, Vitória R P VRP; Yunes, José A JA

Publication Date: 2020-09

Variant appearance in text: rs1800370

PubMed Link: 32592449

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of Luminal and Basal Phenotypes in Bladder Cancer.

Scientific Reports

Guo, Charles C CC; Bondaruk, Jolanta J; Yao, Hui H; Wang, Ziqiao Z; Zhang, Li L; Lee, Sangkyou S; Lee, June-Goo JG; Cogdell, David D; Zhang, Miao M; Yang, Guoliang G; Dadhania, Vipulkumar V; Choi, Woonyoung W; Wei, Peng P; Gao, Jianjun J; Theodorescu, Dan D; Logothetis, Christopher C; Dinney, Colin C; Kimmel, Marek M; Weinstein, John N JN; McConkey, David J DJ; Czerniak, Bogdan B

Publication Date: 2020-06-16

Variant appearance in text: p53: 108G>A; P36=

PubMed Link: 32546765

Variant Present in the following documents:

• 41598_2020_66747_MOESM3_ESM.pdf

View BVdb publication page

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Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: TP53: 108G>A; P36P; rs1800370

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

View BVdb publication page

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Associations among smoking, MGMT hypermethylation, TP53-mutations, and relapse in head and neck squamous cell carcinoma.

Plos One

Matsuda, Shinichi S; Mafune, Aki A; Kohda, Nagisa N; Hama, Takanori T; Urashima, Mitsuyoshi M

Publication Date: 2020

Variant appearance in text: TP53: P36P

PubMed Link: 32324779

Variant Present in the following documents:

• Main text
• pone.0231932.pdf

View BVdb publication page

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Metastatic Melanoma Patient-Derived Xenografts Respond to MDM2 Inhibition as a Single Agent or in Combination with BRAF/MEK Inhibition.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Shattuck-Brandt, Rebecca L RL; Chen, Sheau-Chiann SC; Murray, Emily E; Johnson, Christopher Andrew CA; Crandall, Holly H; O'Neal, Jamye F JF; Al-Rohil, Rami Nayef RN; Nebhan, Caroline A CA; Bharti, Vijaya V; Dahlman, Kimberly B KB; Ayers, Gregory D GD; Yan, Chi C; Kelley, Mark C MC; Kauffmann, Rondi M RM; Hooks, Mary M; Grau, Ana A; Johnson, Douglas B DB; Vilgelm, Anna E AE; Richmond, Ann A

Publication Date: 2020-07-15

Variant appearance in text: TP53: 108G>A

PubMed Link: 32234759

Variant Present in the following documents:

• Main text

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: TP53: 108G>A; rs1800370

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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Association of intron microsatellite status and exon mutational profiles of TP53 in human colorectal cancer.

Experimental And Therapeutic Medicine

Liu, Xin X; Feng, Dandan D; Huo, Xueyun X; Xiao, Xiaoqin X; Chen, Zhenwen Z

Publication Date: 2019-12

Variant appearance in text: rs1800370

PubMed Link: 31777536

Variant Present in the following documents:

• Main text

View BVdb publication page

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The predictive capability of immunohistochemistry and DNA sequencing for determining TP53 functional mutation status: a comparative study of 41 glioblastoma patients.

Oncotarget

Roshandel, Aarash K AK; Busch, Christopher M CM; Mullekom, Jennifer Van JV; Cuoco, Joshua A JA; Rogers, Cara M CM; Apfel, Lisa S LS; Marvin, Eric A EA; Sontheimer, Harald W HW; Umans, Robyn A RA

Publication Date: 2019-10-22

Variant appearance in text: TP53: 108G>A; P36P

PubMed Link: 31692772

Variant Present in the following documents:

• Main text

View BVdb publication page

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Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.

Genes

Urbina-Jara, Laura Keren LK; Rojas-Martinez, Augusto A; Martinez-Ledesma, Emmanuel E; Aguilar, Dione D; Villarreal-Garza, Cynthia C; Ortiz-Lopez, Rocio R

Publication Date: 2019-10-10

Variant appearance in text: TP53: 108G>A; rs1800370

PubMed Link: 31658756

Variant Present in the following documents:

• Main text
• genes-10-00786.pdf

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: TP53: P36P; rs1800370

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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DNA methylation signature is prognostic of choroid plexus tumor aggressiveness.

Clinical Epigenetics

Pienkowska, Malgorzata M; Choufani, Sanaa S; Turinsky, Andrei L AL; Guha, Tanya T; Merino, Diana M DM; Novokmet, Ana A; Brudno, Michael M; Weksberg, Rosanna R; Shlien, Adam A; Hawkins, Cynthia C; Bouffet, Eric E; Tabori, Uri U; Gilbertson, Richard J RJ; Finlay, Jonathan L JL; Jabado, Nada N; Thomas, Christian C; Sill, Martin M; Capper, David D; Hasselblatt, Martin M; Malkin, David D

Publication Date: 2019-08-13

Variant appearance in text: TP53: 108G>A

PubMed Link: 31409384

Variant Present in the following documents:

• 13148_2019_708_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Point mutation detection by economic HRM protocol primer design.

Biochemistry And Biophysics Reports

Al-Koofee, Dhafer A F DAF; Ismael, Jawad Mohammed JM; Mubarak, Shaden M H SMH

Publication Date: 2019-07

Variant appearance in text: rs1800370

PubMed Link: 31008377

Variant Present in the following documents:

• Main text

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: 108G>A; Pro36=

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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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: 108G>A; Pro36Pro; rs1800370

PubMed Link: 30796655

Variant Present in the following documents:

• Main text
• 10549_2019_Article_5168.pdf

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: TP53: P36P; rs1800370

PubMed Link: 30737087

Variant Present in the following documents:

• mmc1.xlsx, sheet 9

View BVdb publication page

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: TP53: 108G>A; Pro36Pro; rs1800370

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
• 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Mutational processes shape the landscape of TP53 mutations in human cancer.

Nature Genetics

Giacomelli, Andrew O AO; Yang, Xiaoping X; Lintner, Robert E RE; McFarland, James M JM; Duby, Marc M; Kim, Jaegil J; Howard, Thomas P TP; Takeda, David Y DY; Ly, Seav Huong SH; Kim, Eejung E; Gannon, Hugh S HS; Hurhula, Brian B; Sharpe, Ted T; Goodale, Amy A; Fritchman, Briana B; Steelman, Scott S; Vazquez, Francisca F; Tsherniak, Aviad A; Aguirre, Andrew J AJ; Doench, John G JG; Piccioni, Federica F; Roberts, Charles W M CWM; Meyerson, Matthew M; Getz, Gad G; Johannessen, Cory M CM; Root, David E DE; Hahn, William C WC

Publication Date: 2018-10

Variant appearance in text: N/A

PubMed Link: 30224644

Variant Present in the following documents:

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: rs1800370

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: TP53: 108G>A; rs1800370

PubMed Link: 29661169

Variant Present in the following documents:

• 12885_2018_4304_MOESM7_ESM.pdf

View BVdb publication page

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ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-update on methodological approaches and results interpretation.

Leukemia

Malcikova, J J; Tausch, E E; Rossi, D D; Sutton, L A LA; Soussi, T T; Zenz, T T; Kater, A P AP; Niemann, C U CU; Gonzalez, D D; Davi, F F; Gonzalez Diaz, M M; Moreno, C C; Gaidano, G G; Stamatopoulos, K K; Rosenquist, R R; Stilgenbauer, S S; Ghia, P P; Pospisilova, S S; ,

Publication Date: 2018-05

Variant appearance in text: TP53: 108G>A; Pro36=

PubMed Link: 29467486

Variant Present in the following documents:

• Main text
• 41375_2017_Article_7.pdf

View BVdb publication page

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Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One

Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A

Publication Date: 2017

Variant appearance in text: rs1800370

PubMed Link: 29267365

Variant Present in the following documents:

• Main text
• pone.0189881.s008.xlsx, sheet 2
• pone.0189881.s008.xlsx, sheet 3
• pone.0189881.s003.xlsx, sheet 1
• pone.0189881.pdf
• pone.0189881.s008.xlsx, sheet 4
• pone.0189881.s008.xlsx, sheet 1

View BVdb publication page

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Analysis of Newly Identified and Rare Synonymous Genetic Variants in the RET Gene in Patients with Medullary Thyroid Carcinoma in Polish Population.

Endocrine Pathology

Sromek, Maria M; Czetwertyńska, Małgorzata M; Tarasińska, Magdalena M; Janiec-Jankowska, Aneta A; Zub, Renata R; Ćwikła, Maria M; Nowakowska, Dorota D; Chechlińska, Magdalena M

Publication Date: 2017-09

Variant appearance in text: TP53: Pro36Pro

PubMed Link: 28647780

Variant Present in the following documents:

• Main text
• 12022_2017_Article_9487.pdf

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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: 108G>A; Pro36=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Placenta-Specific Protein 1 Expression in Human Papillomavirus 16/18-Positive Cervical Cancers Is Associated With Tumor Histology.

International Journal Of Gynecological Cancer : Official Journal Of The International Gynecological Cancer Society

Devor, Eric J EJ; Reyes, Henry D HD; Gonzalez-Bosquet, Jesus J; Warrier, Akshaya A; Kenzie, Susan A SA; Ibik, Nonye V NV; Miller, Marina D MD; Schickling, Brandon M BM; Goodheart, Michael J MJ; Thiel, Kristina W KW; Leslie, Kimberly K KK

Publication Date: 2017-05

Variant appearance in text: TP53: P36P

PubMed Link: 28375929

Variant Present in the following documents:

• Main text

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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: TP53: P36P; rs1800370

PubMed Link: 28002797

Variant Present in the following documents:

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

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Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications

Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F

Publication Date: 2016-08-18

Variant appearance in text: TP53: 108G>A; Pro36=; rs1800370

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s2.xlsx, sheet 1

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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: P36P; rs1800370

PubMed Link: 27223485

Variant Present in the following documents:

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

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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: 108G>A; Pro36Pro; rs1800370

PubMed Link: 25925845

Variant Present in the following documents:

• Main text

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Homozygous deletions of UGT2B17 modifies effects of smoking on TP53-mutations and relapse of head and neck carcinoma.

Bmc Cancer

Mafune, Aki A; Hama, Takanori T; Suda, Toshihito T; Suzuki, Yutaka Y; Ikegami, Masahiro M; Sakanashi, Chikako C; Imai, Satoko S; Nakashima, Akio A; Yokoo, Takashi T; Wada, Kota K; Kojima, Hiromi H; Urashima, Mitsuyoshi M

Publication Date: 2015-03-31

Variant appearance in text: N/A

PubMed Link: 25886176

Variant Present in the following documents:

View BVdb publication page

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Multi-tiered genomic analysis of head and neck cancer ties TP53 mutation to 3p loss.

Nature Genetics

Gross, Andrew M AM; Orosco, Ryan K RK; Shen, John P JP; Egloff, Ann Marie AM; Carter, Hannah H; Hofree, Matan M; Choueiri, Michel M; Coffey, Charles S CS; Lippman, Scott M SM; Hayes, D Neil DN; Cohen, Ezra E EE; Grandis, Jennifer R JR; Nguyen, Quyen T QT; Ideker, Trey T

Publication Date: 2014-09

Variant appearance in text: rs1800370

PubMed Link: 25086664

Variant Present in the following documents:

• NIHMS612904-supplement-2.xlsx, sheet 8

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In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients.

Journal Of Translational Medicine

Lucarelli, Enrico E; Bellotti, Chiara C; Mantelli, Melissa M; Avanzini, Maria Antonietta MA; Maccario, Rita R; Novara, Francesca F; Arrigo, Giulia G; Zuffardi, Orsetta O; Zuntini, Monia M; Pandolfi, Martina M; Sangiorgi, Luca L; Lisini, Daniela D; Donati, Davide D; Duchi, Serena S

Publication Date: 2014-04-09

Variant appearance in text: rs1800370

PubMed Link: 24716831

Variant Present in the following documents:

• Main text
• 1479-5876-12-95.pdf

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Distinct effects of alcohol consumption and smoking on genetic alterations in head and neck carcinoma.

Plos One

Urashima, Mitsuyoshi M; Hama, Takanori T; Suda, Toshihito T; Suzuki, Yutaka Y; Ikegami, Masahiro M; Sakanashi, Chikako C; Akutsu, Taisuke T; Amagaya, Suguru S; Horiuchi, Kazuhumi K; Imai, Yu Y; Mezawa, Hidetoshi H; Noya, Miki M; Nakashima, Akio A; Mafune, Aki A; Kato, Takakuni T; Kojima, Hiromi H

Publication Date: 2013

Variant appearance in text: TP53: P36P

PubMed Link: 24278325

Variant Present in the following documents:

• Main text
• pone.0080828.pdf

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TP53 p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient.

Bmc Cancer

Giacomazzi, Juliana J; Selistre, Simone S; Duarte, Juliana J; Ribeiro, Jorge Pinto JP; Vieira, Paulo J C PJ; de Souza Macedo, Gabriel G; Rossi, Cristina C; Czepielewski, Mauro M; Netto, Cristina Brinkmann Oliveira CB; Hainaut, Pierre P; Ashton-Prolla, Patricia P

Publication Date: 2013-04-09

Variant appearance in text: rs1800370

PubMed Link: 23570263

Variant Present in the following documents:

• Main text

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A meta-analysis of cancer risk associated with the TP53 intron 3 duplication polymorphism (rs17878362): geographic and tumor-specific effects.

Cell Death & Disease

Sagne, C C; Marcel, V V; Amadou, A A; Hainaut, P P; Olivier, M M; Hall, J J

Publication Date: 2013-02-14

Variant appearance in text: rs1800370

PubMed Link: 23412385

Variant Present in the following documents:

• cddis201324a.pdf

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Tissue microarray cytometry reveals positive impact of homeodomain interacting protein kinase 2 in colon cancer survival irrespective of p53 function.

The American Journal Of Pathology

Soubeyran, Isabelle I; Mahouche, Isabelle I; Grigoletto, Aude A; Leste-Lasserre, Thierry T; Drutel, Guillaume G; Rey, Christophe C; Pedeboscq, Stephane S; Blanchard, France F; Brouste, Veronique V; Sabourin, Jean-Christophe JC; Bécouarn, Yves Y; Reiffers, Josy J; Ichas, François F; De Giorgi, Francesca F

Publication Date: 2011-05

Variant appearance in text: N/A

PubMed Link: 21514416

Variant Present in the following documents:

View BVdb publication page

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Multiplex amplification coupled with COLD-PCR and high resolution melting enables identification of low-abundance mutations in cancer samples with low DNA content.

The Journal Of Molecular Diagnostics : Jmd

Milbury, Coren A CA; Chen, Clark C CC; Mamon, Harvey H; Liu, Pingfang P; Santagata, Sandro S; Makrigiorgos, G Mike GM

Publication Date: 2011-03

Variant appearance in text: TP53: 108G>A; P36P

PubMed Link: 21354058

Variant Present in the following documents:

• Main text

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TP53 mutations in human cancers: origins, consequences, and clinical use.

Cold Spring Harbor Perspectives In Biology

Olivier, Magali M; Hollstein, Monica M; Hainaut, Pierre P

Publication Date: 2010-01

Variant appearance in text: TP53: 108G>A

PubMed Link: 20182602

Variant Present in the following documents:

• Main text

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Genetic variation in healthy oldest-old.

Plos One

Halaschek-Wiener, Julius J; Amirabbasi-Beik, Mahsa M; Monfared, Nasim N; Pieczyk, Markus M; Sailer, Christian C; Kollar, Anita A; Thomas, Ruth R; Agalaridis, Georgios G; Yamada, So S; Oliveira, Lisa L; Collins, Jennifer A JA; Meneilly, Graydon G; Marra, Marco A MA; Madden, Kenneth M KM; Le, Nhu D ND; Connors, Joseph M JM; Brooks-Wilson, Angela R AR

Publication Date: 2009-08-14

Variant appearance in text: rs1800370

PubMed Link: 19680556

Variant Present in the following documents:

• pone.0006641.s001.xls, sheet 1

View BVdb publication page

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Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population.

American Journal Of Medical Genetics. Part A

Pangilinan, Faith F; Geiler, Kerry K; Dolle, Jessica J; Troendle, James J; Swanson, Deborah A DA; Molloy, Anne M AM; Sutton, Marie M; Conley, Mary M; Kirke, Peadar N PN; Scott, John M JM; Mills, James L JL; Brody, Lawrence C LC

Publication Date: 2008-10-15

Variant appearance in text: TP53: P36P; rs1800370

PubMed Link: 18798306

Variant Present in the following documents:

• Main text

View BVdb publication page

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Significance of genetic abnormalities of p53 protein in Slovenian patients with gastric carcinoma.

Croatian Medical Journal

Juvan, Robert R; Hudler, Petra P; Gazvoda, Barbara B; Repse, Stanislav S; Bracko, Matej M; Komel, Radovan R

Publication Date: 2007-04

Variant appearance in text: N/A

PubMed Link: 17436385

Variant Present in the following documents:

View BVdb publication page

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Mutations in BHD and TP53 genes, but not in HNF1beta gene, in a large series of sporadic chromophobe renal cell carcinoma.

British Journal Of Cancer

Gad, S S; Lefèvre, S H SH; Khoo, S K SK; Giraud, S S; Vieillefond, A A; Vasiliu, V V; Ferlicot, S S; Molinié, V V; Denoux, Y Y; Thiounn, N N; Chrétien, Y Y; Méjean, A A; Zerbib, M M; Benoît, G G; Hervé, J M JM; Allègre, G G; Bressac-de Paillerets, B B; Teh, B T BT; Richard, S S

Publication Date: 2007-01-29

Variant appearance in text: TP53: 108G>A; P36P; rs1800370

PubMed Link: 17133269

Variant Present in the following documents:

• 6603492a.pdf

View BVdb publication page

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