Publications:

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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: D281N

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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Targeting FGFR Pathway Is Not an Effective Therapeutic Strategy in Patients with Unselected Metastatic Esophagogastric Cancer Resistant to Trastuzumab.

Journal Of Personalized Medicine

Zecchetto, Camilla C; Quinzii, Alberto A; Casalino, Simona S; Gaule, Marina M; Pesoni, Camilla C; Merz, Valeria V; Pietrobono, Silvia S; Mangiameli, Domenico D; Pasquato, Martina M; Milleri, Stefano S; Giacopuzzi, Simone S; Bencivenga, Maria M; Tomezzoli, Anna A; de Manzoni, Giovanni G; Melisi, Davide D

Publication Date: 2023-03-11

Variant appearance in text: TP53: D281N

PubMed Link: 36983691

Variant Present in the following documents:

• jpm-13-00508.pdf

View BVdb publication page

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Molecular profiling of rare thymoma using next-generation sequencing: meta-analysis.

Radiology And Oncology

Kostic Peric, Jelena J; Cirkovic, Andja A; Srzentic Drazilov, Sanja S; Samardzic, Natalija N; Skodric Trifunovic, Vesna V; Jovanovic, Dragana D; Pavlovic, Sonja S

Publication Date: 2023-03-01

Variant appearance in text: TP53: D281N

PubMed Link: 36942904

Variant Present in the following documents:

• Main text
• raon-57-012.pdf

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: N/A

PubMed Link: 36922933

Variant Present in the following documents:

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: 841G>A; D281N

PubMed Link: 36879825

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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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: 841G>A; Asp281Asn

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications

Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI

Publication Date: 2023-02-08

Variant appearance in text: TP53: 841G>A; D281N

PubMed Link: 36755027

Variant Present in the following documents:

• 41467_2023_36328_MOESM7_ESM.xlsx, sheet 1
• 41467_2023_36328_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Dynamics of age- versus therapy-related clonal hematopoiesis in long-term survivors of pediatric cancer.

Cancer Discovery

Hagiwara, Kohei K; Natarajan, Sivaraman S; Wang, Zhaoming Z; Zubair, Haseeb H; Mulder, Heather L HL; Dong, Li L; Plyler, Emily M EM; Thimmaiah, Padma P; Ma, Xiaotu X; Ness, Kirsten K KK; Li, Zhenghong Z; Mulrooney, Daniel A DA; Wilson, Carmen L CL; Yasui, Yutaka Y; Hudson, Melissa M MM; Easton, John J; Robison, Leslie L LL; Zhang, Jinghui J

Publication Date: 2023-02-08

Variant appearance in text: TP53: D281N

PubMed Link: 36751942

Variant Present in the following documents:

• cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 4
• cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 1

View BVdb publication page

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Characterization of driver mutations in Chinese non-small cell lung cancer patients using a novel targeted sequencing panel.

Journal Of Thoracic Disease

Zhao, Jing J; Wu, Yang Y; Chen, Min-Jiang MJ; Xu, Yan Y; Zhong, Wei W; Wang, Meng-Zhao MZ

Publication Date: 2022-12

Variant appearance in text: TP53: D281N

PubMed Link: 36647494

Variant Present in the following documents:

• Main text
• jtd-14-12-4669.pdf

View BVdb publication page

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: TP53: D281N

PubMed Link: 36561320

Variant Present in the following documents:

• Table3.xlsx, sheet 1
• Table2.xlsx, sheet 7

View BVdb publication page

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An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology

Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y

Publication Date: 2022

Variant appearance in text: TP53: 841G>A

PubMed Link: 36505399

Variant Present in the following documents:

• Table_2.xlsx, sheet 3
• Table_2.xlsx, sheet 2

View BVdb publication page

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: TP53: D281N

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.

Clinical Genetics

Ariste, Olivier O; de la Grange, Pierre P; Veitia, Reiner A RA

Publication Date: 2022-11-10

Variant appearance in text: TP53: 841G>A; Asp281Asn; rs764146326

PubMed Link: 36353970

Variant Present in the following documents:

• CGE-103-247-s001.xlsx, sheet 1

View BVdb publication page

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NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.

Cell Reports

Ramakrishnan, Gopalakrishnan G; Parajuli, Parash P; Singh, Pura P; Friend, Creighton C; Hurwitz, Eric E; Prunier, Celine C; Razzaque, Mohammed S MS; Xu, Keli K; Atfi, Azeddine A

Publication Date: 2022-11-08

Variant appearance in text: TP53: D281N

PubMed Link: 36351408

Variant Present in the following documents:

• NIHMS1848910-supplement-2.xlsx, sheet 3
• NIHMS1848910-supplement-2.xlsx, sheet 2

View BVdb publication page

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: TP53: 841G>A; D281N

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology

Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ

Publication Date: 2022-10-11

Variant appearance in text: TP53: 841G>A; D281N

PubMed Link: 36219477

Variant Present in the following documents:

• PATH-259-56-s004.xlsx, sheet 2
• PATH-259-56-s006.xlsx, sheet 2

View BVdb publication page

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Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years.

Geroscience

Del Pozo-Valero, Marta M; Corton, Marta M; López-Rodríguez, Rosario R; Mahillo-Fernández, Ignacio I; Ruiz-Hornillos, Javier J; Minguez, Pablo P; Villaverde, Cristina C; Pérez-Tomás, María Elena ME; Barreda-Sánchez, María M; Mancebo, Esther E; , ; Paz-Artal, Estela E; Guillén-Navarro, Encarna E; Almoguera, Berta B; Ayuso, Carmen C

Publication Date: 2022-10-03

Variant appearance in text: TP53: 841G>A; Asp281Asn

PubMed Link: 36184726

Variant Present in the following documents:

• 11357_2022_666_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: p53: 841G>A

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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The spectrum of subclonal TP53 mutations in chronic lymphocytic leukemia: A next generation sequencing retrospective study.

Hematological Oncology

De Luca, Giuseppa G; Cerruti, Giannamaria G; Lastraioli, Sonia S; Conte, Romana R; Ibatici, Adalberto A; Di Felice, Nikki N; Morabito, Fortunato F; Monti, Paola P; Fronza, Gilberto G; Matis, Serena S; Colombo, Monica M; Fabris, Sonia S; Ciarrocchi, Alessia A; Neri, Antonino A; Menichini, Paola P; Ferrarini, Manlio M; Nozza, Paolo P; Fais, Franco F; Cutrona, Giovanna G; Dono, Mariella M

Publication Date: 2022-08-12

Variant appearance in text: TP53: 841G>A

PubMed Link: 35961859

Variant Present in the following documents:

• Main text
• HON-40-962.pdf

View BVdb publication page

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Landscape of somatic alterations in large-scale solid tumors from an Asian population.

Nature Communications

Wu, Liqun L; Yao, Herui H; Chen, Hui H; Wang, Aodi A; Guo, Kun K; Gou, Wenli W; Yu, Yanfei Y; Li, Xiang X; Yao, Ming M; Yuan, Shaohua S; Pang, Fei F; Hu, Jinwei J; Chen, Lijuan L; Liu, Wenjin W; Yao, Jicheng J; Zhang, Shuirong S; Dong, Xiaowei X; Wang, Weifeng W; Hu, Jing J; Ling, Qi Q; Ding, Songming S; Wei, Yan Y; Li, Qiang Q; Cao, Weichun W; Wang, Shuang S; Di, Yang Y; Feng, Feiling F; Zhao, Gang G; Zhang, Jian J; Huang, Ling L; Xu, Jia J; Yan, Wangjun W; Tong, Zhongsheng Z; Jiang, Da D; Ji, Tao T; Li, Qiao Q; Xu, Ling L; He, Huiying H; Shang, Liang L; Liu, Jin J; Wang, Kefeng K; Wu, Duoguang D; Shen, Jingnan J; Liu, Ye Y; Zhang, Ting T; Liang, Chaojie C; Wang, Yusheng Y; Shang, Yanhong Y; Guo, Jianji J; Liang, Guanbiao G; Xu, Shifeng S; Liu, Junfeng J; Wang, Kai K; Wang, Minghui M

Publication Date: 2022-07-23

Variant appearance in text: TP53: D281N

PubMed Link: 35871175

Variant Present in the following documents:

• 41467_2022_31780_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: TP53: D281N

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3
• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology

Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J

Publication Date: 2022

Variant appearance in text: TP53: 841G>A; D281N

PubMed Link: 35814426

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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Differences in actionable genomic alterations between brain metastases and non‑brain metastases in patients with non‑small cell lung cancer.

International Journal Of Oncology

Nian, Rui R; Jiang, Huihui H; Zhao, Jiangman J; Hou, Wanle W; Zhang, Hua H; Ma, Jiangtao J; Lv, Pengbiao P; Jiang, Lisha L; Wang, Yongpan Y; Xu, Yue Y; Wu, Shouxin S; Lou, Jingwei J; Li, Wanjun W

Publication Date: 2022-09

Variant appearance in text: TP53: D281N

PubMed Link: 35796015

Variant Present in the following documents:

• Supplementary_Data6.xlsx, sheet 1

View BVdb publication page

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Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age.

Nature Communications

Burkhardt, Birgit B; Michgehl, Ulf U; Rohde, Jonas J; Erdmann, Tabea T; Berning, Philipp P; Reutter, Katrin K; Rohde, Marius M; Borkhardt, Arndt A; Burmeister, Thomas T; Dave, Sandeep S; Tzankov, Alexandar A; Dugas, Martin M; Sandmann, Sarah S; Fend, Falko F; Finger, Jasmin J; Mueller, Stephanie S; Gökbuget, Nicola N; Haferlach, Torsten T; Kern, Wolfgang W; Hartmann, Wolfgang W; Klapper, Wolfram W; Oschlies, Ilske I; Richter, Julia J; Kontny, Udo U; Lutz, Mathias M; Maecker-Kolhoff, Britta B; Ott, German G; Rosenwald, Andreas A; Siebert, Reiner R; von Stackelberg, Arend A; Strahm, Brigitte B; Woessmann, Wilhelm W; Zimmermann, Martin M; Zapukhlyak, Myroslav M; Grau, Michael M; Lenz, Georg G

Publication Date: 2022-07-06

Variant appearance in text: TP53: 782+402G>A; D281N

PubMed Link: 35794096

Variant Present in the following documents:

• 41467_2022_31355_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Correlation of changes in subclonal architecture with progression in the MMRF CoMMpass study.

Translational Oncology

Kaur, Gurvinder G; Jena, Lingaraja L; Gupta, Ritu R; Farswan, Akanksha A; Gupta, Anubha A; Sriram, K K

Publication Date: 2022-06-28

Variant appearance in text: TP53: 841G>A; Asp281Asn

PubMed Link: 35777247

Variant Present in the following documents:

• mmc5.xls, sheet 3

View BVdb publication page

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Reversal of viral and epigenetic HLA class I repression in Merkel cell carcinoma.

The Journal Of Clinical Investigation

Lee, Patrick C PC; Klaeger, Susan S; Le, Phuong M PM; Korthauer, Keegan K; Cheng, Jingwei J; Ananthapadmanabhan, Varsha V; Frost, Thomas C TC; Stevens, Jonathan D JD; Wong, Alan Yl AY; Iorgulescu, J Bryan JB; Tarren, Anna Y AY; Chea, Vipheaviny A VA; Carulli, Isabel P IP; Lemvigh, Camilla K CK; Pedersen, Christina B CB; Gartin, Ashley K AK; Sarkizova, Siranush S; Wright, Kyle T KT; Li, Letitia W LW; Nomburg, Jason J; Li, Shuqiang S; Huang, Teddy T; Liu, Xiaoxi X; Pomerance, Lucas L; Doherty, Laura M LM; Apffel, Annie M AM; Wallace, Luke J LJ; Rachimi, Suzanna S; Felt, Kristen D KD; Wolff, Jacquelyn O JO; Witten, Elizabeth E; Zhang, Wandi W; Neuberg, Donna D; Lane, William J WJ; Zhang, Guanglan G; Olsen, Lars R LR; Thakuria, Manisha M; Rodig, Scott J SJ; Clauser, Karl R KR; Starrett, Gabriel J GJ; Doench, John G JG; Buhrlage, Sara J SJ; Carr, Steven A SA; DeCaprio, James A JA; Wu, Catherine J CJ; Keskin, Derin B DB

Publication Date: 2022-07-01

Variant appearance in text: TP53: D281N

PubMed Link: 35775490

Variant Present in the following documents:

• jci-132-151666-s199.xlsx, sheet 1

View BVdb publication page

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Somatic targeted mutation profiling of colorectal cancer precursor lesions.

Bmc Medical Genomics

Dos Santos, Wellington W; Dos Reis, Mariana Bisarro MB; Porto, Jun J; de Carvalho, Ana Carolina AC; Matsushita, Marcus M; Oliveira, Gabriela G; Syrjänen, Kari K; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP

Publication Date: 2022-06-28

Variant appearance in text: TP53: Asp281Asn; rs764146326

PubMed Link: 35761395

Variant Present in the following documents:

• 12920_2022_1294_MOESM5_ESM.xlsx, sheet 1
• 12920_2022_1294_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: TP53: D281N

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: TP53: 841G>A; Asp281Asn; rs764146326

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 1

View BVdb publication page

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Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.

Cancer Medicine

Gan, Meifu M; Zhang, Chen C; Qiu, Liqing L; Wang, Yue Y; Bao, Hua H; Yu, Ruoying R; Liu, Rui R; Wu, Xue X; Shao, Yang Y; Hou, Peifeng P; Fei, Zhenglei Z

Publication Date: 2022-11

Variant appearance in text: TP53: 841G>A; D281N

PubMed Link: 35586877

Variant Present in the following documents:

• CAM4-11-4070-s004.xlsx, sheet 1

View BVdb publication page

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RB1-Negative Retinal Organoids Display Proliferation of Cone Photoreceptors and Loss of Retinal Differentiation.

Cancers

Kanber, Deniz D; Woestefeld, Julia J; Döpper, Hannah H; Bozet, Morgane M; Brenzel, Alexandra A; Altmüller, Janine J; Kilpert, Fabian F; Lohmann, Dietmar D; Pommerenke, Claudia C; Steenpass, Laura L

Publication Date: 2022-04-26

Variant appearance in text: TP53: D281N

PubMed Link: 35565295

Variant Present in the following documents:

• Main text
• cancers-14-02166.pdf

View BVdb publication page

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Circulating Tumor DNA Mutations in Progressive Gastrointestinal Stromal Tumors Identify Biomarkers of Treatment Resistance and Uncover Potential Therapeutic Strategies.

Frontiers In Oncology

Ko, Tun Kiat TK; Lee, Elizabeth E; Ng, Cedric Chuan-Young CC; Yang, Valerie Shiwen VS; Farid, Mohamad M; Teh, Bin Tean BT; Chan, Jason Yongsheng JY; Somasundaram, Nagavalli N

Publication Date: 2022

Variant appearance in text: TP53: 841G>A

PubMed Link: 35273917

Variant Present in the following documents:

• Main text
• fonc-12-840843.pdf

View BVdb publication page

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Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications

Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L

Publication Date: 2022-03-10

Variant appearance in text: TP53: 841G>A; D281N

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology

Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE

Publication Date: 2022-06

Variant appearance in text: TP53: D281N

PubMed Link: 35165384

Variant Present in the following documents:

• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
• NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5

View BVdb publication page

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Acquired somatic variants in inherited myeloid malignancies.

Leukemia

Armes, Hannah H; Rio-Machin, Ana A; Krizsán, Szilvia S; Bödör, Csaba C; Kaya, Fadimana F; Bewicke-Copley, Findlay F; Alnajar, Jenna J; Walne, Amanda A; Péterffy, Borbála B; Tummala, Hemanth H; Rouault-Pierre, Kevin K; Dokal, Inderjeet I; Vulliamy, Tom T; Fitzgibbon, Jude J

Publication Date: 2022-05

Variant appearance in text: TP53: D281N; rs764146326

PubMed Link: 35140362

Variant Present in the following documents:

• 41375_2022_1515_MOESM3_ESM.xlsx, sheet 1

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Comparison of acute myeloid leukemia and myelodysplastic syndromes with TP53 aberrations.

Annals Of Hematology

Dutta, Sayantanee S; Moritz, Jennifer J; Pregartner, Gudrun G; Thallinger, Gerhard G GG; Brandstätter, Ilona I; Lind, Karin K; Rezania, Simin S; Lyssy, Freya F; Reinisch, Andreas A; Zebisch, Armin A; Berghold, Andrea A; Wölfler, Albert A; Sill, Heinz H

Publication Date: 2022-04

Variant appearance in text: TP53: D281N

PubMed Link: 35083527

Variant Present in the following documents:

• 277_2022_4766_MOESM1_ESM.pdf

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A Quantitative Systems Approach to Define Novel Effects of Tumour p53 Mutations on Binding Oncoprotein MDM2.

International Journal Of Molecular Sciences

Fuentes, Manuel M; Srivastava, Sanjeeva S; Gronenborn, Angela M AM; LaBaer, Joshua J

Publication Date: 2021-12-21

Variant appearance in text: p53: Asp281Asn

PubMed Link: 35008477

Variant Present in the following documents:

• Main text

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A Quantitative Systems Approach to Define Novel Effects of Tumour p53 Mutations on Binding Oncoprotein MDM2.

International Journal Of Molecular Sciences

Fuentes, Manuel M; Srivastava, Sanjeeva S; Gronenborn, Angela M AM; LaBaer, Joshua J

Publication Date: 2021-12-21

Variant appearance in text: p53: Asp281Asn

PubMed Link: 35008477

Variant Present in the following documents:

• Main text

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Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws.

Molecular Genetics & Genomic Medicine

Shi, Ruirui R; Li, Xuefen X; Zhang, Jianyun J; Chen, Feng F; Ma, Ming M; Feng, Yanrui Y; Li, Tiejun T

Publication Date: 2022-01-05

Variant appearance in text: TP53: Asp281Asn

PubMed Link: 34989160

Variant Present in the following documents:

• Main text
• MGG3-10-e1861.pdf

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Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws.

Molecular Genetics & Genomic Medicine

Shi, Ruirui R; Li, Xuefen X; Zhang, Jianyun J; Chen, Feng F; Ma, Ming M; Feng, Yanrui Y; Li, Tiejun T

Publication Date: 2022-01

Variant appearance in text: TP53: Asp281Asn

PubMed Link: 34989160

Variant Present in the following documents:

• Main text
• MGG3-10-e1861.pdf

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Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Human Genomics

Avramović, Vladimir V; Frederiksen, Simona Denise SD; Brkić, Marjana M; Tarailo-Graovac, Maja M

Publication Date: 2021-12-14

Variant appearance in text: TP53: D281N

PubMed Link: 34906245

Variant Present in the following documents:

• 40246_2021_371_MOESM1_ESM.xlsx, sheet 5

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Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Human Genomics

Avramović, Vladimir V; Frederiksen, Simona Denise SD; Brkić, Marjana M; Tarailo-Graovac, Maja M

Publication Date: 2021-12-14

Variant appearance in text: TP53: D281N

PubMed Link: 34906245

Variant Present in the following documents:

• 40246_2021_371_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Single-cell sequencing demonstrates complex resistance landscape in CLL and MCL treated with BTK and BCL2 inhibitors.

Blood Advances

Thompson, Ella R ER; Nguyen, Tamia T; Kankanige, Yamuna Y; Markham, John F JF; Anderson, Mary Ann MA; Handunnetti, Sasanka M SM; Thijssen, Rachel R; Yeh, Paul Sung-Hao PS; Tam, Constantine S CS; Seymour, John F JF; Roberts, Andrew W AW; Westerman, David A DA; Blombery, Piers P

Publication Date: 2022-01-25

Variant appearance in text: TP53: 841G>A; Asp281Asn

PubMed Link: 34861696

Variant Present in the following documents:

• advancesADV2021006211-suppl1.pdf

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Single-Cell Sequencing Demonstrates Complex Resistance Landscape in CLL and MCL Treated with BTK and BCL2 Inhibitors.

Blood Advances

Thompson, Ella R ER; Nguyen, Tamia T; Kankanige, Yamuna Y; Markham, John F JF; Anderson, Mary Ann MA; Handunnetti, Sasanka M SM; Thijssen, Rachel R; Yeh, Paul Sung-Hao PS; Tam, Constantine S CS; Seymour, John F JF; Roberts, Andrew W AW; Westerman, David A DA; Blombery, Piers P

Publication Date: 2021-12-03

Variant appearance in text: TP53: 841G>A; Asp281Asn

PubMed Link: 34861696

Variant Present in the following documents:

• advancesADV2021006211-suppl1.pdf

View BVdb publication page

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Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Cell Reports

Zhang, Yiqun Y; Chen, Fengju F; Pleasance, Erin E; Williamson, Laura L; Grisdale, Cameron J CJ; Titmuss, Emma E; Laskin, Janessa J; Jones, Steven J M SJM; Cortes-Ciriano, Isidro I; Marra, Marco A MA; Creighton, Chad J CJ

Publication Date: 2021-11-16

Variant appearance in text: TP53: 841G>A; Asp281Asn

PubMed Link: 34788622

Variant Present in the following documents:

• NIHMS1757901-supplement-2.xlsx, sheet 3

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: TP53: D281N

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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Molecular profiling of advanced malignancies guides first-line N-of-1 treatments in the I-PREDICT treatment-naïve study.

Genome Medicine

Sicklick, Jason K JK; Kato, Shumei S; Okamura, Ryosuke R; Patel, Hitendra H; Nikanjam, Mina M; Fanta, Paul T PT; Hahn, Michael E ME; De, Pradip P; Williams, Casey C; Guido, Jessica J; Solomon, Benjamin M BM; McKay, Rana R RR; Krie, Amy A; Boles, Sarah G SG; Ross, Jeffrey S JS; Lee, J Jack JJ; Leyland-Jones, Brian B; Lippman, Scott M SM; Kurzrock, Razelle R

Publication Date: 2021-10-04

Variant appearance in text: TP53: D281N

PubMed Link: 34607609

Variant Present in the following documents:

• 13073_2021_969_MOESM1_ESM.xlsx, sheet 2

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Bead-Based Isolation of Circulating Tumor DNA from Pancreatic Cancer Patients Enables High Fidelity Next Generation Sequencing.

Cancer Management And Research

Balendran-Braun, Sukirthini S; Kieler, Markus M; Liebmann-Reindl, Sandra S; Unseld, Matthias M; Bianconi, Daniela D; W Prager, Gerald G; Streubel, Berthold B

Publication Date: 2021

Variant appearance in text: TP53: D281N

PubMed Link: 34393517

Variant Present in the following documents:

• Main text
• cmar-13-6249.pdf

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: TP53: 841G>A; D281N

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

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Comparison of two targeted ultra-deep sequencing technologies for analysis of plasma circulating tumour DNA in endocrine-therapy-resistant breast cancer patients.

Breast Cancer Research And Treatment

Nteliopoulos, Georgios G; Page, Karen K; Hills, Allison A; Howarth, Karen K; Emmett, Warren W; Green, Emma E; Martinson, Luke J LJ; Fernadez-Garcia, Daniel D; Hastings, Robert R; Guttery, David S DS; Kenny, Laura L; Stebbing, Justin J; Cleator, Susan S; Rehman, Farah F; Gleason, Kelly L T KLT; Sanela, Andrijac A; Ion, Charlotte C; Rushton, Amelia J AJ; Rosenfeld, Nitzan N; Coombes, R Charles RC; Shaw, Jacqueline A JA

Publication Date: 2021-07

Variant appearance in text: TP53: D281N

PubMed Link: 34097174

Variant Present in the following documents:

• 10549_2021_6220_MOESM2_ESM.xlsx, sheet 1
• 10549_2021_6220_MOESM2_ESM.xlsx, sheet 2

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Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.

Genome Medicine

Tsui, Dana W Y DWY; Cheng, Michael L ML; Shady, Maha M; Yang, Julie L JL; Stephens, Dennis D; Won, Helen H; Srinivasan, Preethi P; Huberman, Kety K; Meng, Fanli F; Jing, Xiaohong X; Patel, Juber J; Hasan, Maysun M; Johnson, Ian I; Gedvilaite, Erika E; Houck-Loomis, Brian B; Socci, Nicholas D ND; Selcuklu, S Duygu SD; Seshan, Venkatraman E VE; Zhang, Hongxin H; Chakravarty, Debyani D; Zehir, Ahmet A; Benayed, Ryma R; Arcila, Maria M; Ladanyi, Marc M; Funt, Samuel A SA; Feldman, Darren R DR; Li, Bob T BT; Razavi, Pedram P; Rosenberg, Jonathan J; Bajorin, Dean D; Iyer, Gopa G; Abida, Wassim W; Scher, Howard I HI; Rathkopf, Dana D; Viale, Agnes A; Berger, Michael F MF; Solit, David B DB

Publication Date: 2021-05-31

Variant appearance in text: TP53: D281N

PubMed Link: 34059130

Variant Present in the following documents:

• 13073_2021_898_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes

Frontiers In Oncology

Doddato, Gabriella G; Valentino, Floriana F; Giliberti, Annarita A; Papa, Filomena Tiziana FT; Tita, Rossella R; Bruno, Lucia Pia LP; Resciniti, Sara S; Fallerini, Chiara C; Benetti, Elisa E; Palmieri, Maria M; Mencarelli, Maria Antonietta MA; Fabbiani, Alessandra A; Bruttini, Mirella M; Orrico, Alfredo A; Baldassarri, Margherita M; Fava, Francesca F; Lopergolo, Diego D; Lo Rizzo, Caterina C; Lamacchia, Vittoria V; Mannucci, Sara S; Pinto, Anna Maria AM; Curr, Aurora A; Mancini, Virginia V; , ; , ; Mari, Francesca F; Renieri, Alessandra A; Ariani, Francesca F

Publication Date: 2021

Variant appearance in text: TP53: 841G>A; Asp281Asn; rs764146326

PubMed Link: 34026625

Variant Present in the following documents:

• Main text

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