Publications:

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Homologous recombination deficiency derived from whole-genome sequencing predicts platinum response in triple-negative breast cancers.

Nature Communications

Ter Brugge, Petra P; Moser, Sarah C SC; Bièche, Ivan I; Kristel, Petra P; Ibadioune, Sabrina S; Eeckhoutte, Alexandre A; de Bruijn, Roebi R; van der Burg, Eline E; Lutz, Catrin C; Annunziato, Stefano S; de Ruiter, Julian J; Masliah Planchon, Julien J; Vacher, Sophie S; Courtois, Laura L; El-Botty, Rania R; Dahmani, Ahmed A; Montaudon, Elodie E; Morisset, Ludivine L; Sourd, Laura L; Huguet, Léa L; Derrien, Heloise H; Nemati, Fariba F; Chateau-Joubert, Sophie S; Larcher, Thibaut T; Salomon, Anne A; Decaudin, Didier D; Reyal, Fabien F; Coussy, Florence F; Popova, Tatiana T; Wesseling, Jelle J; Stern, Marc-Henri MH; Jonkers, Jos J; Marangoni, Elisabetta E

Publication Date: 2023-04-07

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 37029129

Variant Present in the following documents:

• 41467_2023_37537_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.

Nature Communications

Cotto, Kelsy C KC; Feng, Yang-Yang YY; Ramu, Avinash A; Richters, Megan M; Freshour, Sharon L SL; Skidmore, Zachary L ZL; Xia, Huiming H; McMichael, Joshua F JF; Kunisaki, Jason J; Campbell, Katie M KM; Chen, Timothy Hung-Po TH; Rozycki, Emily B EB; Adkins, Douglas D; Devarakonda, Siddhartha S; Sankararaman, Sumithra S; Lin, Yiing Y; Chapman, William C WC; Maher, Christopher A CA; Arora, Vivek V; Dunn, Gavin P GP; Uppaluri, Ravindra R; Govindan, Ramaswamy R; Griffith, Obi L OL; Griffith, Malachi M

Publication Date: 2023-03-22

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 36949070

Variant Present in the following documents:

• 41467_2023_37266_MOESM8_ESM.xlsx, sheet 1

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: 672+1G>T; rs863224499

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 3

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: 672+1G>T

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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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: 672+1G>T

PubMed Link: 36807650

Variant Present in the following documents:

• 41375_2023_1845_MOESM1_ESM.pdf

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: 672+1G>T

PubMed Link: 36755027

Variant Present in the following documents:

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

View BVdb publication page

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Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Frontiers In Oncology

Sun, Daqiang D; Xu, Meilin M; Pan, Chaohu C; Tang, Hongzhen H; Wang, Peng P; Wu, Dongfang D; Luo, Haitao H

Publication Date: 2022

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 36425562

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_4.xlsx, sheet 1
• Table_3.xlsx, sheet 1

View BVdb publication page

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Diagnostic accuracy of mutational analysis along the Müllerian tract to detect ovarian cancer.

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

van Bommel, Majke H D MHD; Pijnenborg, Johanna M A JMA; van der Putten, Louis J M LJM; Bulten, Johan J; Snijders, Marc P L M MPLM; Küsters-Vandevelde, Heidi V N HVN; Sweegers, Sanne S; Vos, M Caroline MC; Ligtenberg, Marjolein J L MJL; Eijkelenboom, Astrid A; de Hullu, Joanne A JA; Reijnen, Casper C

Publication Date: 2022-11-16

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 36384753

Variant Present in the following documents:

• ijgc-2022-003911supp001.pdf

View BVdb publication page

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Distinct p53 phosphorylation patterns in chronic lymphocytic leukemia patients are reflected in the activation of circumjacent pathways upon DNA damage.

Molecular Oncology

Mancikova, Veronika V; Pesova, Michaela M; Pavlova, Sarka S; Helma, Robert R; Zavacka, Kristyna K; Hejret, Vaclav V; Taus, Petr P; Hynst, Jakub J; Plevova, Karla K; Malcikova, Jitka J; Pospisilova, Sarka S

Publication Date: 2022-11-05

Variant appearance in text: p53: 672+1G>T

PubMed Link: 36334078

Variant Present in the following documents:

• MOL2-17-82-s003.pdf

View BVdb publication page

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Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology

Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W

Publication Date: 2022

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 36238300

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine

Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W

Publication Date: 2022-09-19

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 36123678

Variant Present in the following documents:

• 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Somatic whole genome dynamics of precancer in Barrett's esophagus reveals features associated with disease progression.

Nature Communications

Paulson, Thomas G TG; Galipeau, Patricia C PC; Oman, Kenji M KM; Sanchez, Carissa A CA; Kuhner, Mary K MK; Smith, Lucian P LP; Hadi, Kevin K; Shah, Minita M; Arora, Kanika K; Shelton, Jennifer J; Johnson, Molly M; Corvelo, Andre A; Maley, Carlo C CC; Yao, Xiaotong X; Sanghvi, Rashesh R; Venturini, Elisa E; Emde, Anne-Katrin AK; Hubert, Benjamin B; Imielinski, Marcin M; Robine, Nicolas N; Reid, Brian J BJ; Li, Xiaohong X

Publication Date: 2022-04-28

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 35484108

Variant Present in the following documents:

• 41467_2022_29767_MOESM3_ESM.xlsx, sheet 24

View BVdb publication page

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Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine

Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y

Publication Date: 2022-07

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

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: 672+1G>T

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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Multi-omic machine learning predictor of breast cancer therapy response.

Nature

Sammut, Stephen-John SJ; Crispin-Ortuzar, Mireia M; Chin, Suet-Feung SF; Provenzano, Elena E; Bardwell, Helen A HA; Ma, Wenxin W; Cope, Wei W; Dariush, Ali A; Dawson, Sarah-Jane SJ; Abraham, Jean E JE; Dunn, Janet J; Hiller, Louise L; Thomas, Jeremy J; Cameron, David A DA; Bartlett, John M S JMS; Hayward, Larry L; Pharoah, Paul D PD; Markowetz, Florian F; Rueda, Oscar M OM; Earl, Helena M HM; Caldas, Carlos C

Publication Date: 2022-01

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 34875674

Variant Present in the following documents:

• 41586_2021_4278_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine

Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B

Publication Date: 2021-11-25

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 34839264

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine

Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B

Publication Date: 2021-12

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 34839264

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Dynamic recurrence risk and adjuvant chemotherapy benefit prediction by ctDNA in resected NSCLC.

Nature Communications

Qiu, Bin B; Guo, Wei W; Zhang, Fan F; Lv, Fang F; Ji, Ying Y; Peng, Yue Y; Chen, Xiaoxi X; Bao, Hua H; Xu, Yang Y; Shao, Yang Y; Tan, Fengwei F; Xue, Qi Q; Gao, Shugeng S; He, Jie J

Publication Date: 2021-11-19

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 34799585

Variant Present in the following documents:

• 41467_2021_27022_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Dynamic recurrence risk and adjuvant chemotherapy benefit prediction by ctDNA in resected NSCLC.

Nature Communications

Qiu, Bin B; Guo, Wei W; Zhang, Fan F; Lv, Fang F; Ji, Ying Y; Peng, Yue Y; Chen, Xiaoxi X; Bao, Hua H; Xu, Yang Y; Shao, Yang Y; Tan, Fengwei F; Xue, Qi Q; Gao, Shugeng S; He, Jie J

Publication Date: 2021-11-19

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 34799585

Variant Present in the following documents:

• 41467_2021_27022_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Profile of esophageal squamous cell carcinoma mutations in Brazilian patients.

Scientific Reports

Munari, Fernanda Franco FF; Dos Santos, Wellington W; Evangelista, Adriane Feijó AF; Carvalho, Ana Carolina AC; Pastrez, Paula Aguiar PA; Bugatti, Diego D; Wohnrath, Durval R DR; Scapulatempo-Neto, Cristovam C; Guimarães, Denise Peixoto DP; Longatto-Filho, Adhemar A; Reis, Rui Manuel RM

Publication Date: 2021-10-18

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 34663841

Variant Present in the following documents:

• 41598_2021_208_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Treatment with ibrutinib does not induce a TP53 clonal evolution in chronic lymphocytic leukemia.

Haematologica

Cafforio, Luciana L; Raponi, Sara S; Cappelli, Luca Vincenzo LV; Ilari, Caterina C; Soscia, Roberta R; De Propris, Maria Stefania MS; Mariglia, Paola P; Rigolin, Gian Matteo GM; Bardi, Antonella A; Peragine, Nadia N; Piciocchi, Alfonso A; Arena, Valentina V; Mauro, Francesca Romana FR; Cuneo, Antonio A; Guarini, Anna A; Foa, Robin R; Del Giudice, Ilaria I

Publication Date: 2022-01-01

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 34647439

Variant Present in the following documents:

• 2020_263715_CAFFORIO_SUPPL.pdf

View BVdb publication page

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CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.

Scientific Reports

Gutiontov, Stanley I SI; Turchan, William Tyler WT; Spurr, Liam F LF; Rouhani, Sherin J SJ; Chervin, Carolina Soto CS; Steinhardt, George G; Lager, Angela M AM; Wanjari, Pankhuri P; Malik, Renuka R; Connell, Philip P PP; Chmura, Steven J SJ; Juloori, Aditya A; Hoffman, Philip C PC; Ferguson, Mark K MK; Donington, Jessica S JS; Patel, Jyoti D JD; Vokes, Everett E EE; Weichselbaum, Ralph R RR; Bestvina, Christine M CM; Segal, Jeremy P JP; Pitroda, Sean P SP

Publication Date: 2021-10-08

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 34625620

Variant Present in the following documents:

• 41598_2021_99524_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology

Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A

Publication Date: 2022-02

Variant appearance in text: rs863224499

PubMed Link: 34494161

Variant Present in the following documents:

• 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
• 428_2021_3186_MOESM21_ESM.xlsx, sheet 1

View BVdb publication page

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Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease.

Leukemia

Dawoud, Ahmed A Z AAZ; Gilbert, Rodney D RD; Tapper, William J WJ; Cross, Nicholas C P NCP

Publication Date: 2022-02

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 34413458

Variant Present in the following documents:

• 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Comparative analysis of nuclear and mitochondrial DNA from tissue and liquid biopsies of colorectal cancer patients.

Scientific Reports

Haupts, Anna A; Vogel, Anne A; Foersch, Sebastian S; Hartmann, Monika M; Maderer, Annett A; Wachter, Nicolas N; Huber, Tobias T; Kneist, Werner W; Roth, Wilfried W; Lang, Hauke H; Moehler, Markus M; Hartmann, Nils N

Publication Date: 2021-08-18

Variant appearance in text: TP53: 672+1G>T; rs863224499

PubMed Link: 34408162

Variant Present in the following documents:

• 41598_2021_95006_MOESM1_ESM.xlsx, sheet 2
• 41598_2021_95006_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Characteristics of Li-Fraumeni Syndrome in Japan; A Review Study by the Special Committee of JSHT.

Cancer Science

Funato, Michinori M; Tsunematsu, Yukiko Y; Yamazaki, Fumito F; Tamura, Chieko C; Kumamoto, Tadashi T; Takagi, Masatoshi M; Kato, Shunsuke S; Sugimura, Haruhiko H; Tamura, Kazuo K

Publication Date: 2021-05-01

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 33932062

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical Utility of Next-Generation Sequencing-Based Panel Testing under the Universal Health-Care System in Japan: A Retrospective Analysis at a Single University Hospital.

Cancers

Inagaki, Chiaki C; Maeda, Daichi D; Hatake, Kazue K; Sato, Yuki Y; Hashimoto, Kae K; Sakai, Daisuke D; Yachida, Shinichi S; Nonomura, Norio N; Satoh, Taroh T

Publication Date: 2021-03-05

Variant appearance in text: rs863224499

PubMed Link: 33807840

Variant Present in the following documents:

• Main text
• cancers-13-01121.pdf

View BVdb publication page

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A comprehensive analysis of somatic alterations in Chinese ovarian cancer patients.

Scientific Reports

Zhang, Yingli Y; Shi, Xiaoliang X; Zhang, Jiejie J; Chen, Xi X; Zhang, Peng P; Liu, Angen A; Zhu, Tao T

Publication Date: 2021-01-11

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 33432021

Variant Present in the following documents:

• 41598_2020_79694_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
• 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature.

Nature Communications

Yurchenko, Andrey A AA; Padioleau, Ismael I; Matkarimov, Bakhyt T BT; Soulier, Jean J; Sarasin, Alain A; Nikolaev, Sergey S

Publication Date: 2020-11-17

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 33203900

Variant Present in the following documents:

• 41467_2020_19633_MOESM1_ESM.pdf

View BVdb publication page

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Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer

Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F

Publication Date: 2020

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 33145402

Variant Present in the following documents:

• 41523_2020_201_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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NCOR1 may be a potential biomarker of a novel molecular subtype of prostate cancer.

Febs Open Bio

Tang, Lu L; Zhang, Lixia L; Liu, Lei L; Dong, Liping L; Dong, Yuan Y; Zhu, Wenhe W; Wang, Huiyan H

Publication Date: 2020-12

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 33058520

Variant Present in the following documents:

• Main text
• FEB4-10-2678.pdf

View BVdb publication page

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Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications

Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U

Publication Date: 2020-07-20

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 32686686

Variant Present in the following documents:

• 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1

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Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Plos One

Mittempergher, Lorenza L; Piskorz, Anna M AM; Bosma, Astrid J AJ; Michaut, Magali M; Wisman, G Bea A GBA; Kluin, Roelof J C RJC; Nieuwland, Marja M; Brugman, Wim W; van der Ven, Kevin J W KJW; Marass, Francesco F; Morris, James J; Rosenfeld, Nitzan N; Jimenez-Linan, Mercedes M; de Jong, Steven S; van der Zee, Ate G J AGJ; Brenton, James D JD; Bernards, René R

Publication Date: 2020

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 32639993

Variant Present in the following documents:

• pone.0235766.s008.xlsx, sheet 3

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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: 672+1G>T

PubMed Link: 32424350

Variant Present in the following documents:

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

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DNA methylation of chronic lymphocytic leukemia with differential response to chemotherapy.

Scientific Data

Yosifov, Deyan Yordanov DY; Bloehdorn, Johannes J; Döhner, Hartmut H; Lichter, Peter P; Stilgenbauer, Stephan S; Mertens, Daniel D

Publication Date: 2020-05-01

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 32358561

Variant Present in the following documents:

• Main text

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Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.

Bmc Cancer

Steeghs, Elisabeth M P EMP; Kroeze, Leonie I LI; Tops, Bastiaan B J BBJ; van Kempen, Leon C LC; Ter Elst, Arja A; Kastner-van Raaij, Annemiek W M AWM; Hendriks-Cornelissen, Sandra J B SJB; Hermsen, Mandy J W MJW; Jansen, Erik A M EAM; Nederlof, Petra M PM; Schuuring, Ed E; Ligtenberg, Marjolijn J L MJL; Eijkelenboom, Astrid A

Publication Date: 2020-04-07

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 32264863

Variant Present in the following documents:

• 12885_2020_6785_MOESM2_ESM.xlsx, sheet 7

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Integrated multi-omics analysis of genomics, epigenomics, and transcriptomics in ovarian carcinoma.

Aging

Zheng, Mingjun M; Hu, Yuexin Y; Gou, Rui R; Wang, Jing J; Nie, Xin X; Li, Xiao X; Liu, Qing Q; Liu, Juanjuan J; Lin, Bei B

Publication Date: 2019-06-29

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 31257224

Variant Present in the following documents:

• aging-11-102047-s002.xlsx, sheet 13
• aging-11-102047-s002.xlsx, sheet 11
• aging-11-102047-s002.xlsx, sheet 12

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Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum.

Blood

Sarasin, Alain A; Quentin, Samuel S; Droin, Nathalie N; Sahbatou, Mourad M; Saada, Véronique V; Auger, Nathalie N; Boursin, Yannick Y; Dessen, Philippe P; Raimbault, Anna A; Asnafi, Vahid V; Schmutz, Jean-Luc JL; Taïeb, Alain A; Menck, Carlos F M CFM; Rosselli, Filippo F; La Rochelle, Laurianne Drieu LD; Robert, Caroline C; Sicre de Fontbrune, Flore F; Sébert, Marie M; Leblanc, Thierry T; Kannouche, Patricia P; De Botton, Stéphane S; Solary, Eric E; Soulier, Jean J

Publication Date: 2019-06-20

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 30914417

Variant Present in the following documents:

• Main text

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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: 672+1G>T

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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Copy number signatures and mutational processes in ovarian carcinoma.

Nature Genetics

Macintyre, Geoff G; Goranova, Teodora E TE; De Silva, Dilrini D; Ennis, Darren D; Piskorz, Anna M AM; Eldridge, Matthew M; Sie, Daoud D; Lewsley, Liz-Anne LA; Hanif, Aishah A; Wilson, Cheryl C; Dowson, Suzanne S; Glasspool, Rosalind M RM; Lockley, Michelle M; Brockbank, Elly E; Montes, Ana A; Walther, Axel A; Sundar, Sudha S; Edmondson, Richard R; Hall, Geoff D GD; Clamp, Andrew A; Gourley, Charlie C; Hall, Marcia M; Fotopoulou, Christina C; Gabra, Hani H; Paul, James J; Supernat, Anna A; Millan, David D; Hoyle, Aoisha A; Bryson, Gareth G; Nourse, Craig C; Mincarelli, Laura L; Sanchez, Luis Navarro LN; Ylstra, Bauke B; Jimenez-Linan, Mercedes M; Moore, Luiza L; Hofmann, Oliver O; Markowetz, Florian F; McNeish, Iain A IA; Brenton, James D JD

Publication Date: 2018-09

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 30104763

Variant Present in the following documents:

• NIHMS78219-supplement-3.xlsx, sheet 1

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Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Nature Communications

Dufva, Olli O; Kankainen, Matti M; Kelkka, Tiina T; Sekiguchi, Nodoka N; Awad, Shady Adnan SA; Eldfors, Samuli S; Yadav, Bhagwan B; Kuusanmäki, Heikki H; Malani, Disha D; Andersson, Emma I EI; Pietarinen, Paavo P; Saikko, Leena L; Kovanen, Panu E PE; Ojala, Teija T; Lee, Dean A DA; Loughran, Thomas P TP; Nakazawa, Hideyuki H; Suzumiya, Junji J; Suzuki, Ritsuro R; Ko, Young Hyeh YH; Kim, Won Seog WS; Chuang, Shih-Sung SS; Aittokallio, Tero T; Chan, Wing C WC; Ohshima, Koichi K; Ishida, Fumihiro F; Mustjoki, Satu S

Publication Date: 2018-04-19

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 29674644

Variant Present in the following documents:

• 41467_2018_3987_MOESM5_ESM.xlsx, sheet 4

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

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Optimized p53 immunohistochemistry is an accurate predictor of TP53 mutation in ovarian carcinoma.

The Journal Of Pathology. Clinical Research

Köbel, Martin M; Piskorz, Anna M AM; Lee, Sandra S; Lui, Shuhong S; LePage, Cecile C; Marass, Francesco F; Rosenfeld, Nitzan N; Mes Masson, Anne-Marie AM; Brenton, James D JD

Publication Date: 2016-10

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 27840695

Variant Present in the following documents:

• CJP2-2-247-s010.xlsx, sheet 1

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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: 672+1G>T

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

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The prognosis of MYC translocation positive diffuse large B-cell lymphoma depends on the second hit.

The Journal Of Pathology. Clinical Research

Clipson, Alexandra A; Barrans, Sharon S; Zeng, Naiyan N; Crouch, Simon S; Grigoropoulos, Nicholas F NF; Liu, Hongxiang H; Kocialkowski, Sylvia S; Wang, Ming M; Huang, Yuanxue Y; Worrillow, Lisa L; Goodlad, John J; Buxton, Jenny J; Neat, Michael M; Fields, Paul P; Wilkins, Bridget B; Grant, John W JW; Wright, Penny P; Ei-Daly, Hesham H; Follows, George A GA; Roman, Eve E; Watkins, A James AJ; Johnson, Peter W M PW; Jack, Andrew A; Du, Ming-Qing MQ

Publication Date: 2015-07

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 27347428

Variant Present in the following documents:

• Main text

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Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.

Oncotarget

Jean, Stephanie S; Li, Jiaqi J; Katsaros, Dionyssios D; Wubbenhorst, Bradley B; Maxwell, Kara N KN; Fishbein, Lauren L; McLane, Michael W MW; Benedetto, Chiara C; Canuto, Emilie Marion EM; Mitra, Nandita N; Zhang, Lin L; Nathanson, Katherine L KL; Tanyi, Janos L JL

Publication Date: 2016-07-26

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 27191893

Variant Present in the following documents:

• oncotarget-07-48577-s002.xlsx, sheet 1

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Microenvironmental Heterogeneity Parallels Breast Cancer Progression: A Histology-Genomic Integration Analysis.

Plos Medicine

Natrajan, Rachael R; Sailem, Heba H; Mardakheh, Faraz K FK; Arias Garcia, Mar M; Tape, Christopher J CJ; Dowsett, Mitch M; Bakal, Chris C; Yuan, Yinyin Y

Publication Date: 2016-02

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 26881778

Variant Present in the following documents:

• pmed.1001961.s013.pdf

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Whole Exome Sequencing Identifies Frequent Somatic Mutations in Cell-Cell Adhesion Genes in Chinese Patients with Lung Squamous Cell Carcinoma.

Scientific Reports

Li, Chenguang C; Gao, Zhibo Z; Li, Fei F; Li, Xiangchun X; Sun, Yihua Y; Wang, Mengyun M; Li, Dan D; Wang, Rui R; Li, Fuming F; Fang, Rong R; Pan, Yunjian Y; Luo, Xiaoyang X; He, Jing J; Zheng, Liangtao L; Xia, Jufeng J; Qiu, Lixin L; He, Jun J; Ye, Ting T; Zhang, Ruoxin R; He, Minghui M; Zhu, Meiling M; Hu, Haichuan H; Shi, Tingyan T; Zhou, Xiaoyan X; Sun, Menghong M; Tian, Shilin S; Zhou, Yong Y; Wang, Qiaoxiu Q; Chen, Longyun L; Yin, Guangliang G; Lu, Jingya J; Wu, Renhua R; Guo, Guangwu G; Li, Yingrui Y; Hu, Xueda X; Li, Lin L; Asan, ; Wang, Qin Q; Yin, Ye Y; Feng, Qiang Q; Wang, Bin B; Wang, Hang H; Wang, Mingbang M; Yang, Xiaonan X; Zhang, Xiuqing X; Yang, Huanming H; Jin, Li L; Wang, Cun-Yu CY; Ji, Hongbin H; Chen, Haiquan H; Wang, Jun J; Wei, Qingyi Q

Publication Date: 2015-10-27

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 26503331

Variant Present in the following documents:

• srep14237-s4.xls, sheet 1

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Genomic and molecular characterization of esophageal squamous cell carcinoma.

Nature Genetics

Lin, De-Chen DC; Hao, Jia-Jie JJ; Nagata, Yasunobu Y; Xu, Liang L; Shang, Li L; Meng, Xuan X; Sato, Yusuke Y; Okuno, Yusuke Y; Varela, Ana Maria AM; Ding, Ling-Wen LW; Garg, Manoj M; Liu, Li-Zhen LZ; Yang, Henry H; Yin, Dong D; Shi, Zhi-Zhou ZZ; Jiang, Yan-Yi YY; Gu, Wen-Yue WY; Gong, Ting T; Zhang, Yu Y; Xu, Xin X; Kalid, Ori O; Shacham, Sharon S; Ogawa, Seishi S; Wang, Ming-Rong MR; Koeffler, H Phillip HP

Publication Date: 2014-05

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 24686850

Variant Present in the following documents:

• NIHMS573166-supplement-9.xlsx, sheet 9

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Frequent inactivating mutations of STAG2 in bladder cancer are associated with low tumour grade and stage and inversely related to chromosomal copy number changes.

Human Molecular Genetics

Taylor, Claire F CF; Platt, Fiona M FM; Hurst, Carolyn D CD; Thygesen, Helene H HH; Knowles, Margaret A MA

Publication Date: 2014-04-15

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 24270882

Variant Present in the following documents:

• supp_ddt589_ddt589supp_table1.pdf

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Extremely high Tp53 mutation load in esophageal squamous cell carcinoma in Golestan Province, Iran.

Plos One

Abedi-Ardekani, Behnoush B; Kamangar, Farin F; Sotoudeh, Masoud M; Villar, Stephanie S; Islami, Farhad F; Aghcheli, Karim K; Nasrollahzadeh, Dariush D; Taghavi, Noushin N; Dawsey, Sanford M SM; Abnet, Christian C CC; Hewitt, Stephen M SM; Fahimi, Saman S; Saidi, Farrokh F; Brennan, Paul P; Boffetta, Paolo P; Malekzadeh, Reza R; Hainaut, Pierre P

Publication Date: 2011

Variant appearance in text: TP53: 672+1G>T

PubMed Link: 22216294

Variant Present in the following documents:

View BVdb publication page

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