Publications:

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Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness.

Breast Cancer Research : Bcr

Andersen, Lars V B LVB; Larsen, Martin J MJ; Davies, Helen H; Degasperi, Andrea A; Nielsen, Henriette Roed HR; Jensen, Louise A LA; Kroeldrup, Lone L; Gerdes, Anne-Marie AM; Lænkholm, Anne-Vibeke AV; Kruse, Torben A TA; Nik-Zainal, Serena S; Thomassen, Mads M

Publication Date: 2023-06-14

Variant appearance in text: TP53: 742C>T; R248W

PubMed Link: 37316882

Variant Present in the following documents:

• 13058_2023_1655_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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Phase 1b trial of anti-EGFR antibody JMT101 and Osimertinib in EGFR exon 20 insertion-positive non-small-cell lung cancer.

Nature Communications

Zhao, Shen S; Zhuang, Wu W; Han, Baohui B; Song, Zhengbo Z; Guo, Wei W; Luo, Feng F; Wu, Lin L; Hu, Yi Y; Wang, Huijuan H; Dong, Xiaorong X; Jiang, Da D; Wang, Mingxia M; Miao, Liyun L; Wang, Qian Q; Zhang, Junping J; Fu, Zhenming Z; Huang, Yihua Y; Xu, Chunwei C; Hu, Longyu L; Li, Lei L; Hu, Rong R; Yang, Yang Y; Li, Mengke M; Yang, Xiugao X; Zhang, Li L; Huang, Yan Y; Fang, Wenfeng W

Publication Date: 2023-06-12

Variant appearance in text: TP53: 742C>T; R248W

PubMed Link: 37308490

Variant Present in the following documents:

• 41467_2023_39139_MOESM4_ESM.xlsx, sheet 7
• 41467_2023_39139_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Targeting the p53 signaling pathway in cancers: Molecular mechanisms and clinical studies.

Medcomm

Shen, Jinze J; Wang, Qurui Q; Mao, Yunan Y; Gao, Wei W; Duan, Shiwei S

Publication Date: 2023-06

Variant appearance in text: p53: R248W

PubMed Link: 37256211

Variant Present in the following documents:

• Main text

View BVdb publication page

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EGFR p.V774M/p.L833V compound mutations in lung adenocarcinoma responded well to almonertinib: a case report.

Frontiers In Oncology

Pan, Hai H; Zhang, Linlin L; Meng, Fanlu F; Guan, Shasha S; Zhong, Diansheng D

Publication Date: 2023

Variant appearance in text: TP53: 742C>T; R248W

PubMed Link: 37251951

Variant Present in the following documents:

• Main text
• fonc-13-1159308.pdf

View BVdb publication page

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Impairment of rigidity sensing caused by mutant TP53 gain of function in osteosarcoma.

Bone Research

Luo, Ming M; Huang, Mingyang M; Yang, Ningning N; Zhu, Yufan Y; Huang, Peng P; Xu, Zhujun Z; Wang, Wengang W; Cai, Lin L

Publication Date: 2023-05-29

Variant appearance in text: TP53: R248W

PubMed Link: 37246175

Variant Present in the following documents:

• Main text
• 41413_2023_Article_265.pdf

View BVdb publication page

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Monitoring Treatment Response, Early Recurrence, and Survival in Uterine Serous Carcinoma and Carcinosarcoma Patients Using Personalized Circulating Tumor DNA Biomarkers.

International Journal Of Molecular Sciences

Bellone, Stefania S; McNamara, Blair B; Mutlu, Levent L; Demirkiran, Cem C; Hartwich, Tobias Max Philipp TMP; Harold, Justin J; Yang-Hartwich, Yang Y; Siegel, Eric R ER; Santin, Alessandro D AD

Publication Date: 2023-05-17

Variant appearance in text: TP53: R248W

PubMed Link: 37240216

Variant Present in the following documents:

• ijms-24-08873.pdf

View BVdb publication page

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Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.

Breast Cancer Research : Bcr

Miyashita, Minoru M; Bell, Joshua S K JSK; Wenric, Stephane S; Karaesmen, Ezgi E; Rhead, Brooke B; Kase, Matthew M; Kaneva, Kristiyana K; De La Vega, Francisco M FM; Zheng, Yonglan Y; Yoshimatsu, Toshio F TF; Khramtsova, Galina G; Liu, Fang F; Zhao, Fangyuan F; Howard, Frederick M FM; Nanda, Rita R; Beaubier, Nike N; White, Kevin P KP; Huo, Dezheng D; Olopade, Olufunmilayo I OI

Publication Date: 2023-05-25

Variant appearance in text: TP53: 742C>T; R248W

PubMed Link: 37231433

Variant Present in the following documents:

• 13058_2023_1627_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic profiles of IDH-mutant gliomas: MYCN-amplified IDH-mutant astrocytoma had the worst prognosis.

Scientific Reports

Lee, Kwanghoon K; Kim, Seong-Ik SI; Kim, Eric Eunshik EE; Shim, Yu-Mi YM; Won, Jae-Kyung JK; Park, Chul-Kee CK; Choi, Seung Hong SH; Yun, Hongseok H; Lee, Hyunju H; Park, Sung-Hye SH

Publication Date: 2023-04-25

Variant appearance in text: TP53: Arg248Trp

PubMed Link: 37185778

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pathogenic variant profile in DNA damage response genes correlates with metastatic breast cancer progression-free survival in a Mexican-mestizo population.

Frontiers In Oncology

Vázquez-Romo, Rafael R; Millan-Catalan, Oliver O; Ruíz-García, Erika E; Martínez-Gutiérrez, Antonio D AD; Alvarado-Miranda, Alberto A; Campos-Parra, Alma D AD; López-Camarillo, César C; Jacobo-Herrera, Nadia N; López-Urrutia, Eduardo E; Guardado-Estrada, Mariano M; Cantú de León, David D; Pérez-Plasencia, Carlos C

Publication Date: 2023

Variant appearance in text: TP53: 742C>T; Arg248Trp

PubMed Link: 37182128

Variant Present in the following documents:

• Main text
• fonc-13-1146008.pdf
• Table_2.xlsx, sheet 1

View BVdb publication page

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Unraveling the Oncogenic Potential of VAV1 in Human Cancer: Lessons from Mouse Models.

Cells

Shalom, Batel B; Salaymeh, Yaser Y; Risling, Matan M; Katzav, Shulamit S

Publication Date: 2023-04-27

Variant appearance in text: p53: R248W

PubMed Link: 37174676

Variant Present in the following documents:

• Main text
• cells-12-01276.pdf

View BVdb publication page

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The mitochondrial Ca 2+ channel MCU is critical for tumor growth by supporting cell cycle progression and proliferation.

Biorxiv : The Preprint Server For Biology

García, Emily Fernández EF; Paudel, Usha U; Noji, Michael C MC; Bowman, Caitlyn E CE; Pitarresi, Jason R JR; Rustgi, Anil K AK; Wellen, Kathryn E KE; Arany, Zolt Z; Weissenrieder, Jillian S JS; Foskett, J Kevin JK

Publication Date: 2023-04-28

Variant appearance in text: p53: R248W

PubMed Link: 37163088

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impact of Clonal Architecture on Clinical Course and Prognosis in Patients With Myeloproliferative Neoplasms.

Hemasphere

Luque Paz, Damien D; Bader, Michael S MS; Nienhold, Ronny R; Rai, Shivam S; Almeida Fonseca, Tiago T; Stetka, Jan J; Hao-Shen, Hui H; Mild-Schneider, Gabriele G; Passweg, Jakob R JR; Skoda, Radek C RC

Publication Date: 2023-05

Variant appearance in text: TP53: R248W

PubMed Link: 37153874

Variant Present in the following documents:

• hs9-7-e885-s003.pdf
• hs9-7-e885-s001.xlsx, sheet 2

View BVdb publication page

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A living biobank of patient-derived ductal carcinoma in situ mouse-intraductal xenografts identifies risk factors for invasive progression.

Cancer Cell

Hutten, Stefan J SJ; de Bruijn, Roebi R; Lutz, Catrin C; Badoux, Madelon M; Eijkman, Timo T; Chao, Xue X; Ciwinska, Marta M; Sheinman, Michael M; Messal, Hendrik H; Herencia-Ropero, Andrea A; Kristel, Petra P; Mulder, Lennart L; van der Waal, Rens R; Sanders, Joyce J; Almekinders, Mathilde M MM; Llop-Guevara, Alba A; Davies, Helen R HR; van Haren, Matthijs J MJ; Martin, Nathaniel I NI; Behbod, Fariba F; Nik-Zainal, Serena S; Serra, Violeta V; van Rheenen, Jacco J; Lips, Esther H EH; Wessels, Lodewyk F A LFA; , ; Wesseling, Jelle J; Scheele, Colinda L G J CLGJ; Jonkers, Jos J

Publication Date: 2023-04-24

Variant appearance in text: TP53: R248W; rs121912651

PubMed Link: 37116492

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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TP53 somatic mutations in Asian breast cancer are associated with subtype-specific effects.

Breast Cancer Research : Bcr

Ragu, Mohana Eswari ME; Lim, Joanna Mei Ch'wan JMC; Ng, Pei-Sze PS; Yip, Cheng-Har CH; Rajadurai, Pathmanathan P; Teo, Soo-Hwang SH; Pan, Jia-Wern JW

Publication Date: 2023-04-26

Variant appearance in text: TP53: R248W

PubMed Link: 37101199

Variant Present in the following documents:

• 13058_2023_1635_MOESM1_ESM.pdf

View BVdb publication page

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Meta-analysis of commonly mutated genes in leptomeningeal carcinomatosis.

Peerj

Congur, Irem I; Koni, Ekin E; Onat, Onur Emre OE; Tokcaer Keskin, Zeynep Z

Publication Date: 2023

Variant appearance in text: TP53: R248W

PubMed Link: 37096065

Variant Present in the following documents:

• peerj-11-15250-s005.xlsx, sheet 1

View BVdb publication page

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Somatic alterations of TP53 and MDM2 associated with response to enfortumab vedotin in patients with advanced urothelial cancer.

Frontiers In Oncology

Jindal, Tanya T; Zhu, Xiaolin X; Bose, Rohit R; Kumar, Vipul V; Maldonado, Edward E; Deshmukh, Prianka P; Shipp, Chase C; Feng, Stephanie S; Johnson, Michelle S MS; Angelidakis, Austin A; Kwon, Daniel D; Borno, Hala T HT; de Kouchkovsky, Ivan I; Desai, Arpita A; Aggarwal, Rahul R; Fong, Lawrence L; Small, Eric J EJ; Wong, Anthony A; Porten, Sima S; Chou, Jonathan J; Friedlander, Terence T; Koshkin, Vadim S VS

Publication Date: 2023

Variant appearance in text: TP53: R248W

PubMed Link: 37091148

Variant Present in the following documents:

• Main text
• fonc-13-1161089.pdf

View BVdb publication page

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Combined inhibition of BCL-2 and MCL-1 overcomes BAX deficiency-mediated resistance of TP53-mutant acute myeloid leukemia to individual BH3 mimetics.

Blood Cancer Journal

Carter, Bing Z BZ; Mak, Po Yee PY; Tao, Wenjing W; Ayoub, Edward E; Ostermann, Lauren B LB; Huang, Xuelin X; Loghavi, Sanam S; Boettcher, Steffen S; Nishida, Yuki Y; Ruvolo, Vivian V; Hughes, Paul E PE; Morrow, Phuong K PK; Haferlach, Torsten T; Kornblau, Steven S; Muftuoglu, Muharrem M; Andreeff, Michael M

Publication Date: 2023-04-24

Variant appearance in text: TP53: R248W

PubMed Link: 37088806

Variant Present in the following documents:

• Main text

View BVdb publication page

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Dynamics of Sequence and Structural Cell-Free DNA Landscapes in Small-Cell Lung Cancer.

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

Sivapalan, Lavanya L; Iams, Wade T WT; Belcaid, Zineb Z; Scott, Susan C SC; Niknafs, Noushin N; Balan, Archana A; White, James R JR; Kopparapu, Prasad P; Cann, Christopher C; Landon, Blair V BV; Pereira, Gavin G; Velculescu, Victor E VE; Hann, Christine L CL; Lovly, Christine M CM; Anagnostou, Valsamo V

Publication Date: 2023-04-18

Variant appearance in text: TP53: R248W

PubMed Link: 37071497

Variant Present in the following documents:

• ccr-22-2242_ts1-9_suppts1-9.xlsx, sheet 6

View BVdb publication page

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Homogenous TP53mut-associated tumor biology across mutation and cancer types revealed by transcriptome analysis.

Cell Death Discovery

Romanovsky, Eva E; Kluck, Klaus K; Ourailidis, Iordanis I; Menzel, Michael M; Beck, Susanne S; Ball, Markus M; Kazdal, Daniel D; Christopoulos, Petros P; Schirmacher, Peter P; Stiewe, Thorsten T; Stenzinger, Albrecht A; Budczies, Jan J

Publication Date: 2023-04-14

Variant appearance in text: TP53: R248W

PubMed Link: 37059713

Variant Present in the following documents:

• Main text
• 41420_2023_Article_1413.pdf

View BVdb publication page

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Predicting response to enzalutamide and abiraterone in metastatic prostate cancer using whole-omics machine learning.

Nature Communications

de Jong, Anouk C AC; Danyi, Alexandra A; van Riet, Job J; de Wit, Ronald R; Sjöström, Martin M; Feng, Felix F; de Ridder, Jeroen J; Lolkema, Martijn P MP

Publication Date: 2023-04-08

Variant appearance in text: TP53: R248W; rs121912651

PubMed Link: 37031196

Variant Present in the following documents:

• 41467_2023_37647_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: TP53: R248W

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Precise pancreatic cancer therapy through targeted degradation of mutant p53 protein by cerium oxide nanoparticles.

Journal Of Nanobiotechnology

Zhang, Hao H; Zhang, Wang W; Hu, Bochuan B; Qin, Xiaohua X; Yi, Tianxiang T; Ye, Yayi Y; Huang, Xiaowan X; Song, Yang Y; Yang, Zhenyu Z; Qian, Jieying J; Zhang, Yunjiao Y

Publication Date: 2023-04-01

Variant appearance in text: p53: R248W

PubMed Link: 37005668

Variant Present in the following documents:

• Main text
• 12951_2023_Article_1867.pdf

View BVdb publication page

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Progressive metastatic infantile fibrosarcoma with multiple acquired mutations.

Cold Spring Harbor Molecular Case Studies

Furtado, Larissa V LV; Kacar, Marija M; Mostafavi, Roya R; Shi, Zonggao Z; Ruiz, Robert R; Koo, Selene C SC; Santiago, Teresa T; Segers, Blair B; Krasin, Matthew J MJ; Abramson, Zachary R ZR; Shulkin, Barry B; Talbot, Lindsay J LJ; Pappo, Alberto A; Gartrell, Jessica J

Publication Date: 2023-03-30

Variant appearance in text: TP53: 742C>T

PubMed Link: 36997313

Variant Present in the following documents:

• Main text
• MCS006277Fur.pdf

View BVdb publication page

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Rewired m6A epitranscriptomic networks link mutant p53 to neoplastic transformation.

Nature Communications

Xu, An A; Liu, Mo M; Huang, Mo-Fan MF; Zhang, Yang Y; Hu, Ruifeng R; Gingold, Julian A JA; Liu, Ying Y; Zhu, Dandan D; Chien, Chian-Shiu CS; Wang, Wei-Chen WC; Liao, Zian Z; Yuan, Fei F; Hsu, Chih-Wei CW; Tu, Jian J; Yu, Yao Y; Rosen, Taylor T; Xiong, Feng F; Jia, Peilin P; Yang, Yi-Ping YP; Bazer, Danielle A DA; Chen, Ya-Wen YW; Li, Wenbo W; Huff, Chad D CD; Zhu, Jay-Jiguang JJ; Aguilo, Francesca F; Chiou, Shih-Hwa SH; Boles, Nathan C NC; Lai, Chien-Chen CC; Hung, Mien-Chie MC; Zhao, Zhongming Z; Van Nostrand, Eric L EL; Zhao, Ruiying R; Lee, Dung-Fang DF

Publication Date: 2023-03-27

Variant appearance in text: p53: R248W

PubMed Link: 36973285

Variant Present in the following documents:

• Main text
• 41467_2023_37398_MOESM1_ESM.pdf
• 41467_2023_Article_37398.pdf

View BVdb publication page

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Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.

Scientific Reports

Sasaki, Keiju K; Takahashi, Shin S; Ouchi, Kota K; Otsuki, Yasufumi Y; Wakayama, Shonosuke S; Ishioka, Chikashi C

Publication Date: 2023-03-24

Variant appearance in text: TP53: R248W

PubMed Link: 36964217

Variant Present in the following documents:

• 41598_2023_32092_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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RBFOX2 modulates a metastatic signature of alternative splicing in pancreatic cancer.

Nature

Jbara, Amina A; Lin, Kuan-Ting KT; Stossel, Chani C; Siegfried, Zahava Z; Shqerat, Haya H; Amar-Schwartz, Adi A; Elyada, Ela E; Mogilevsky, Maxim M; Raitses-Gurevich, Maria M; Johnson, Jared L JL; Yaron, Tomer M TM; Ovadia, Ofek O; Jang, Gun Ho GH; Danan-Gotthold, Miri M; Cantley, Lewis C LC; Levanon, Erez Y EY; Gallinger, Steven S; Krainer, Adrian R AR; Golan, Talia T; Karni, Rotem R

Publication Date: 2023-03-22

Variant appearance in text: TP53: R248W

PubMed Link: 36949200

Variant Present in the following documents:

• 41586_2023_5820_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Relapse timing is associated with distinct evolutionary dynamics in DLBCL.

Medrxiv : The Preprint Server For Health Sciences

Hilton, Laura K LK; Ngu, Henry S HS; Collinge, Brett B; Dreval, Kostiantyn K; Ben-Neriah, Susana S; Rushton, Christopher K CK; Wong, Jasper C H JCH; Cruz, Manuela M; Roth, Andrew A; Boyle, Merrill M; Meissner, Barbara B; Slack, Graham W GW; Farinha, Pedro P; Craig, Jeffrey W JW; Gerrie, Alina S AS; Freeman, Ciara L CL; Villa, Diego D; Crump, Michael M; Shepherd, Lois L; Hay, Annette E AE; Kuruvilla, John J; Savage, Kerry J KJ; Kridel, Robert R; Karsan, Aly A; Marra, Marco A MA; Sehn, Laurie H LH; Steidl, Christian C; Morin, Ryan D RD; Scott, David W DW

Publication Date: 2023-03-08

Variant appearance in text: TP53: 742C>T; R248W; rs121912651

PubMed Link: 36945587

Variant Present in the following documents:

• media-1.xlsx, sheet 14

View BVdb publication page

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Synthetic lethality of drug-induced polyploidy and BCL-2 inhibition in lymphoma.

Nature Communications

Portelinha, Ana A; da Silva Ferreira, Mariana M; Erazo, Tatiana T; Jiang, Man M; Asgari, Zahra Z; de Stanchina, Elisa E; Younes, Anas A; Wendel, Hans-Guido HG

Publication Date: 2023-03-18

Variant appearance in text: TP53: R248W

PubMed Link: 36934096

Variant Present in the following documents:

• 41467_2023_37216_MOESM1_ESM.pdf

View BVdb publication page

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Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine

Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW

Publication Date: 2023-03-16

Variant appearance in text: TP53: R248W

PubMed Link: 36928815

Variant Present in the following documents:

• 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5

View BVdb publication page

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: TP53: 742C>T; Arg248Trp; rs121912651

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1
• crc-22-0136-s01.xlsx, sheet 3

View BVdb publication page

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A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology

Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW

Publication Date: 2023-03-13

Variant appearance in text: TP53: R248W

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.

Frontiers In Oncology

He, Ping P; Liu, Jie J; Xu, Qingyuan Q; Ma, Huaijun H; Niu, Beifang B; Huang, Gang G; Wu, Wei W

Publication Date: 2023

Variant appearance in text: TP53: 742C>T; R248W; rs121912651

PubMed Link: 36910641

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 8

View BVdb publication page

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Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications

Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G

Publication Date: 2023-03-11

Variant appearance in text: TP53: 742C>T; Arg248Trp

PubMed Link: 36906579

Variant Present in the following documents:

• 41467_2023_36922_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Correlations between Molecular Alterations, Histopathological Characteristics, and Poor Prognosis in Esophageal Adenocarcinoma.

Cancers

Orsini, Arianna A; Mastracci, Luca L; Bozzarelli, Isotta I; Ferrari, Anna A; Isidori, Federica F; Fiocca, Roberto R; Lugaresi, Marialuisa M; D'Errico, Antonietta A; Malvi, Deborah D; Cataldi-Stagetti, Erica E; Spaggiari, Paola P; Tomezzoli, Anna A; Albarello, Luca L; Ristimäki, Ari A; Bottiglieri, Luca L; Krishnadath, Kausilia K KK; Rosati, Riccardo R; Fumagalli Romario, Uberto U; De Manzoni, Giovanni G; Räsänen, Jari J; Martinelli, Giovanni G; Mattioli, Sandro S; Bonora, Elena E; On Behalf Of The Eacsge Consortium,

Publication Date: 2023-02-23

Variant appearance in text: TP53: Arg248Trp

PubMed Link: 36900206

Variant Present in the following documents:

• cancers-15-01408.pdf

View BVdb publication page

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: TP53: R248W

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.

Iscience

Tam, Benjamin B; Qin, Zixin Z; Zhao, Bojin B; Wang, San Ming SM; Lei, Chon Lok CL

Publication Date: 2023-03-17

Variant appearance in text: TP53: 742C>T; R248W

PubMed Link: 36879825

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc4.xlsx, sheet 1
• mmc2.xlsx, sheet 1

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Characterization of clonal immunoglobulin heavy V-D-J gene rearrangements in Chinese patients with chronic lymphocytic leukemia: Clinical features and molecular profiles.

Frontiers In Oncology

Deng, Xinyue X; Zhang, Meilan M; Wang, Jiachen J; Zhou, Xiaoxi X; Xiao, Min M

Publication Date: 2023

Variant appearance in text: TP53: R248W

PubMed Link: 36874132

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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A Phenogenetic Axis that Modulates Clinical Manifestation and Predicts Treatment Outcome in Primary Myeloid Neoplasms.

Cancer Research Communications

Shen, Qiujin Q; Feng, Yahui Y; Gong, Xiaowen X; Jia, Yujiao Y; Gao, Qingyan Q; Jiao, Xiaokang X; Qi, Saibing S; Liu, Xueou X; Wei, Hui H; Huang, Bingqing B; Zhao, Ningning N; Song, Xiaoqiang X; Ma, Yueshen Y; Liang, Shihao S; Zhang, Donglei D; Qin, Li L; Wang, Ying Y; Qu, Shiqiang S; Zou, Yao Y; Chen, Yumei Y; Guo, Ye Y; Yi, Shuhua S; An, Gang G; Jiao, Zengtao Z; Zhang, Song S; Li, Linfeng L; Yan, Jun J; Wang, Huijun H; Song, Zhen Z; Mi, Yingchang Y; Qiu, Lugui L; Zhu, Xiaofan X; Wang, Jianxiang J; Xiao, Zhijian Z; Chen, Junren J

Publication Date: 2022-04

Variant appearance in text: TP53: 742C>T; R248W

PubMed Link: 36873623

Variant Present in the following documents:

• crc-21-0194-s05.xlsx, sheet 1

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Loss of p53 activates thyroid hormone via type 2 deiodinase and enhances DNA damage.

Nature Communications

Nappi, Annarita A; Miro, Caterina C; Pezone, Antonio A; Tramontano, Alfonso A; Di Cicco, Emery E; Sagliocchi, Serena S; Cicatiello, Annunziata Gaetana AG; Murolo, Melania M; Torabinejad, Sepehr S; Abbotto, Elena E; Caiazzo, Giuseppina G; Raia, Maddalena M; Stornaiuolo, Mariano M; Antonini, Dario D; Fabbrocini, Gabriella G; Salvatore, Domenico D; Avvedimento, Vittorio Enrico VE; Dentice, Monica M

Publication Date: 2023-03-04

Variant appearance in text: p53: R248W

PubMed Link: 36871014

Variant Present in the following documents:

• Main text
• 41467_2023_36755_MOESM8_ESM.xlsx, sheet 8
• 41467_2023_36755_MOESM8_ESM.xlsx, sheet 2
• 41467_2023_Article_36755.pdf

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Whole genome sequencing of Malaysian colorectal cancer patients reveals specific druggable somatic mutations.

Frontiers In Molecular Biosciences

Mohd Yunos, Ryia Illani RI; Ab Mutalib, Nurul-Syakima NS; Khoo, Jia-Shiun JS; Saidin, Sazuita S; Ishak, Muhiddin M; Syafruddin, Saiful Effendi SE; Tieng, Francis Yew Fu FYF; Md Yusof, Najwa Farhah NF; Abd Razak, Mohd Ridhwan MR; Mahamad Nadzir, Norshahidah N; Abu, Nadiah N; Rose, Isa Md IM; Sagap, Ismail I; Mazlan, Luqman L; Jamal, Rahman R

Publication Date: 2022

Variant appearance in text: TP53: R248W; rs121912651

PubMed Link: 36866106

Variant Present in the following documents:

• Main text
• fmolb-09-997747.pdf

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Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.

Cancer Discovery

Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI

Publication Date: 2023-03-02

Variant appearance in text: TP53: 742C>T; R248W; rs121912651

PubMed Link: 36862804

Variant Present in the following documents:

• cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6

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High-risk multiple myeloma predicted by circulating plasma cells and its genetic characteristics.

Frontiers In Oncology

Xia, Yuan Y; Shen, Na N; Zhang, Run R; Wu, Yujie Y; Shi, Qinglin Q; Li, Jianyong J; Chen, Lijuan L; Xu, Min M; Jin, Yuanyuan Y

Publication Date: 2023

Variant appearance in text: rs121912651

PubMed Link: 36845679

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: TP53: Arg248Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Pan-cancer clinical impact of latent drivers from double mutations.

Communications Biology

Yavuz, Bengi Ruken BR; Tsai, Chung-Jung CJ; Nussinov, Ruth R; Tuncbag, Nurcan N

Publication Date: 2023-02-20

Variant appearance in text: TP53: R248W

PubMed Link: 36808143

Variant Present in the following documents:

• 42003_2023_4519_MOESM3_ESM.xlsx, sheet 3

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Clinical impact of TP53 disruption in chronic lymphocytic leukemia patients treated with ibrutinib: a campus CLL study.

Leukemia

Bomben, Riccardo R; Rossi, Francesca Maria FM; Vit, Filippo F; Bittolo, Tamara T; Zucchetto, Antonella A; Papotti, Robel R; Tissino, Erika E; Pozzo, Federico F; Degan, Massimo M; Polesel, Jerry J; Bulian, Pietro P; Marasca, Roberto R; Reda, Gianluigi G; Laurenti, Luca L; Olivieri, Jacopo J; Chiarenza, Annalisa A; Laureana, Roberta R; Postorino, Massimiliano M; Del Principe, Maria Ilaria MI; Cuneo, Antonio A; Gentile, Massimo M; Morabito, Fortunato F; Fronza, Gilberto G; Tafuri, Agostino A; Zaja, Francesco F; Foà, Robin R; Di Raimondo, Francesco F; Del Poeta, Giovanni G; Gattei, Valter V

Publication Date: 2023-02-18

Variant appearance in text: TP53: 742C>T; R248W

PubMed Link: 36807650

Variant Present in the following documents:

• 41375_2023_1845_MOESM1_ESM.pdf

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RNA Sequencing Identifies Frequent Mitogen Activated Protein Kinase-Associated Fusion Genes in Intraductal Tubulopapillary Neoplasms of the Pancreas.

Gastroenterology

Lee, Jae W JW; Hruban, Ralph H RH; Brosens, Lodewijk A A LAA; Condello, Vincenzo V; , ; Nikiforova, Marina N MN; Singhi, Aatur D AD

Publication Date: 2023-02-17

Variant appearance in text: TP53: R248W

PubMed Link: 36801389

Variant Present in the following documents:

• nihms-1903203.pdf

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METTL14 modulates glycolysis to inhibit colorectal tumorigenesis in p53-wild-type cells.

Embo Reports

Hou, Yichao Y; Zhang, Xintian X; Yao, Han H; Hou, Lidan L; Zhang, Qingwei Q; Tao, Enwei E; Zhu, Xiaoqiang X; Jiang, Shanshan S; Ren, Yimeng Y; Hong, Xialu X; Lu, Shiyuan S; Leng, Xiaoxu X; Xie, Yile Y; Gao, Yaqi Y; Liang, Yu Y; Zhong, Ting T; Long, Bohan B; Fang, Jing-Yuan JY; Meng, Xiangjun X

Publication Date: 2023-02-16

Variant appearance in text: p53: R248W

PubMed Link: 36794620

Variant Present in the following documents:

• EMBR-24-e56325-s006.pdf

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Colorectal adenosquamous carcinoma: genomic profiling of a rare histotype of colorectal cancer.

Virchows Archiv : An International Journal Of Pathology

Angerilli, Valentina V; Parente, Paola P; Businello, Gianluca G; Vanoli, Alessandro A; Paudice, Michele M; Perrone, Giovanni G; Munari, Giada G; Govoni, Ilaria I; Neri, Giuseppe G; Rebellato, Elena E; Parrella, Paola P; Grillo, Federica F; Mastracci, Luca L; Fassan, Matteo M

Publication Date: 2023-02-15

Variant appearance in text: TP53: Arg248Trp

PubMed Link: 36790480

Variant Present in the following documents:

• Main text
• 428_2023_Article_3517.pdf

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