Publications:

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A comparison of DNA sequencing and gene expression profiling to assist tissue of origin diagnosis in cancer of unknown primary.

The Journal Of Pathology

Posner, Atara A; Prall, Owen Wj OW; Sivakumaran, Tharani T; Etemadamoghadam, Dariush D; Thio, Niko N; Pattison, Andrew A; Balachander, Shiva S; Fisher, Krista K; Webb, Samantha S; Wood, Colin C; DeFazio, Anna A; Wilcken, Nicholas N; Gao, Bo B; Karapetis, Christos S CS; Singh, Madhu M; Collins, Ian M IM; Richardson, Gary G; Steer, Christopher C; Warren, Mark M; Karanth, Narayan N; Wright, Gavin G; Williams, Scott S; George, Joshy J; Hicks, Rodney J RJ; Boussioutas, Alex A; Gill, Anthony J AJ; Solomon, Benjamin J BJ; Xu, Huiling H; Fellowes, Andrew A; Fox, Stephen B SB; Schofield, Penelope P; Bowtell, David D; Mileshkin, Linda L; Tothill, Richard W RW

Publication Date: 2022-10-26

Variant appearance in text: TP53: R337*

PubMed Link: 36287571

Variant Present in the following documents:

• PATH-259-81-s011.xlsx, sheet 2

View BVdb publication page

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Genetic alterations associated with malignant transformation of sporadic vestibular schwannoma.

Acta Neurochirurgica

Håvik, Aril Løge AL; Bruland, Ove O; Miletic, Hrvoje H; Poulsgaard, Lars L; Scheie, David D; Fugleholm, Kåre K; Lund-Johansen, Morten M; Knappskog, Per-Morten PM

Publication Date: 2022-02

Variant appearance in text: TP53: R337X

PubMed Link: 34816314

Variant Present in the following documents:

• Main text

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: Arg337Ter

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM1_ESM.pdf

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: Arg337Ter

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM1_ESM.pdf

View BVdb publication page

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Significance of gene mutations in the Wnt signaling pathway in traditional serrated adenomas of the colon and rectum.

Plos One

Nakanishi, Hiroyoshi H; Sawada, Takeshi T; Kaizaki, Yasuharu Y; Ota, Ryosuke R; Suzuki, Hiromu H; Yamamoto, Eiichiro E; Aoki, Hironori H; Eizuka, Makoto M; Hasatani, Kenkei K; Takahashi, Naoki N; Inagaki, Satoko S; Ebi, Masahide M; Kato, Hiroyuki H; Kubota, Eiji E; Kataoka, Hiromi H; Takahashi, Satoru S; Tokino, Takashi T; Minamoto, Toshinari T; Sugai, Tamotsu T; Sasaki, Yasushi Y

Publication Date: 2020

Variant appearance in text: TP53: Arg337Ter

PubMed Link: 32092099

Variant Present in the following documents:

• pone.0229262.s007.xlsx, sheet 1

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: TP53: R337X

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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ZNF131 suppresses centrosome fragmentation in glioblastoma stem-like cells through regulation of HAUS5.

Oncotarget

Ding, Yu Y; Herman, Jacob A JA; Toledo, Chad M CM; Lang, Jackie M JM; Corrin, Philip P; Girard, Emily J EJ; Basom, Ryan R; Delrow, Jeffrey J JJ; Olson, James M JM; Paddison, Patrick J PJ

Publication Date: 2017-07-25

Variant appearance in text: TP53: R337*

PubMed Link: 28596487

Variant Present in the following documents:

• oncotarget-08-48545-s002.xlsx, sheet 1

View BVdb publication page

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Genes involved in angiogenesis and mTOR pathways are frequently mutated in Asian patients with pancreatic neuroendocrine tumors.

International Journal Of Biological Sciences

Chou, Wen-Chi WC; Lin, Po-Han PH; Yeh, Yi-Chen YC; Shyr, Yi-Ming YM; Fang, Wen-Liang WL; Wang, Shin-E SE; Liu, Chun-Yu CY; Chang, Peter Mu-Hsin PM; Chen, Ming-Han MH; Hung, Yi-Ping YP; Li, Chung-Pin CP; Chao, Yee Y; Chen, Ming-Huang MH

Publication Date: 2016

Variant appearance in text: TP53: R337X

PubMed Link: 27994516

Variant Present in the following documents:

• ijbsv12p1523s1.xls, sheet 1
• ijbsv12p1523s2.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: TP53: R337*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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