Publications:

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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: E346X

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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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: E346X

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: 1036G>T; Glu346Ter; rs1567542019

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: 1036G>T; Glu346Ter

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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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: E346*

PubMed Link: 36801389

Variant Present in the following documents:

• nihms-1903203.pdf

View BVdb publication page

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The High Expression of p53 Is Predictive of Poor Survival Rather TP53 Mutation in Esophageal Squamous Cell Carcinoma.

Journal Of Oncology

Jin, Yan Y; Zhao, Xueke X; Song, Xin X; Wang, Ran R; Fan, Zongmin Z; Wang, Panpan P; Yang, Miaomiao M; Zhou, Fuyou F; Bao, Qide Q; Wang, Lidong L

Publication Date: 2023

Variant appearance in text: p53: E346X

PubMed Link: 36660245

Variant Present in the following documents:

• JO2023-3801526.pdf

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: E346*

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 characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.

Cancer Communications (London, England)

Wu, Huanwen H; Yu, Zicheng Z; Liu, Yueping Y; Guo, Lei L; Teng, Lianghong L; Guo, Lingchuan L; Liang, Li L; Wang, Jing J; Gao, Jie J; Li, Ruiyu R; Yang, Ling L; Nie, Xiu X; Su, Dan D; Liang, Zhiyong Z

Publication Date: 2022-10-20

Variant appearance in text: TP53: 1036G>T; E346*

PubMed Link: 36264285

Variant Present in the following documents:

• CAC2-42-1367-s002.xlsx, sheet 3

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: 1036G>T; E346*

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: 1036G>T; E346*

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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Integrated cohort of esophageal squamous cell cancer reveals genomic features underlying clinical characteristics.

Nature Communications

Li, Minghao M; Zhang, Zicheng Z; Wang, Qianrong Q; Yi, Yan Y; Li, Baosheng B

Publication Date: 2022-09-07

Variant appearance in text: TP53: E346X

PubMed Link: 36071046

Variant Present in the following documents:

• 41467_2022_32962_MOESM15_ESM.xlsx, sheet 22

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: E346*

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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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: E346*

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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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: 1036G>T; E346*

PubMed Link: 35586877

Variant Present in the following documents:

• CAM4-11-4070-s004.xlsx, sheet 1

View BVdb publication page

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Plasma Genotyping at the Time of Diagnostic Tissue Biopsy Decreases Time-to-Treatment in Patients With Advanced NSCLC-Results From a Prospective Pilot Study.

Jto Clinical And Research Reports

Thompson, Jeffrey C JC; Aggarwal, Charu C; Wong, Janeline J; Nimgaonkar, Vivek V; Hwang, Wei-Ting WT; Andronov, Michelle M; Dibardino, David M DM; Hutchinson, Christoph T CT; Ma, Kevin C KC; Lanfranco, Anthony A; Moon, Edmund E; Haas, Andrew R AR; Singh, Aditi P AP; Ciunci, Christine A CA; Marmarelis, Melina M; D'Avella, Christopher C; Cohen, Justine V JV; Bauml, Joshua M JM; Cohen, Roger B RB; Langer, Corey J CJ; Vachani, Anil A; Carpenter, Erica L EL

Publication Date: 2022-04

Variant appearance in text: TP53: E346*

PubMed Link: 35392653

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Next-Generation Sequencing in Lung Cancer Patients: A Comparative Approach in NSCLC and SCLC Mutational Landscapes.

Journal Of Personalized Medicine

Pop-Bica, Cecilia C; Ciocan, Cristina Alexandra CA; Braicu, Cornelia C; Haranguș, Antonia A; Simon, Marioara M; Nutu, Andreea A; Pop, Laura Ancuta LA; Slaby, Ondrej O; Atanasov, Atanas G AG; Pirlog, Radu R; Al Hajjar, Nadim N; Berindan-Neagoe, Ioana I

Publication Date: 2022-03-13

Variant appearance in text: TP53: 1036G>T

PubMed Link: 35330454

Variant Present in the following documents:

• jpm-12-00453.pdf

View BVdb publication page

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p53 Immunohistochemistry and Mutation Types Mismatching in High-Grade Serous Ovarian Cancer.

Diagnostics (Basel, Switzerland)

Park, Eunhyang E; Han, Hyunho H; Choi, Sung-Eun SE; Park, Hyunjin H; Woo, Ha-Young HY; Jang, Mi M; Shim, Hyo-Sup HS; Hwang, Sohyun S; Kang, Haeyoun H; Cho, Nam-Hoon NH

Publication Date: 2022-02-24

Variant appearance in text: TP53: E346*

PubMed Link: 35328131

Variant Present in the following documents:

• diagnostics-12-00579.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: 1036G>T; E346*

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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Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Genome Medicine

Ho, Peh Joo PJ; Khng, Alexis J AJ; Loh, Hui Wen HW; Ho, Weang-Kee WK; Yip, Cheng Har CH; Mohd-Taib, Nur Aishah NA; Tan, Veronique Kiak Mien VKM; Tan, Benita Kiat-Tee BK; Tan, Su-Ming SM; Tan, Ern Yu EY; Lim, Swee Ho SH; Jamaris, Suniza S; Sim, Yirong Y; Wong, Fuh Yong FY; Ngeow, Joanne J; Lim, Elaine Hsuen EH; Tai, Mei Chee MC; Wijaya, Eldarina Azfar EA; Lee, Soo Chin SC; Chan, Ching Wan CW; Buhari, Shaik Ahmad SA; Chan, Patrick M Y PMY; Chen, Juliana J C JJC; Seah, Jaime Chin Mui JCM; Lee, Wai Peng WP; Mok, Chi Wei CW; Lim, Geok Hoon GH; Woo, Evan E; Kim, Sung-Won SW; Lee, Jong Won JW; Lee, Min Hyuk MH; Park, Sue K SK; Dunning, Alison M AM; Easton, Douglas F DF; Schmidt, Marjanka K MK; Teo, Soo-Hwang SH; Li, Jingmei J; Hartman, Mikael M

Publication Date: 2021-12-02

Variant appearance in text: TP53: 1036G>T; Glu346Ter

PubMed Link: 34857041

Variant Present in the following documents:

• 13073_2021_978_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Evaluation and diagnostic value of next-generation sequencing analysis of residual liquid-based cytology specimens of pancreatic masses.

Cancer Cytopathology

Sekita-Hatakeyama, Yoko Y; Fujii, Tomomi T; Nishikawa, Takeshi T; Mitoro, Akira A; Sawai, Masayoshi M; Itami, Hiroe H; Morita, Kouhei K; Uchiyama, Tomoko T; Takeda, Maiko M; Sho, Masayuki M; Yoshiji, Hitoshi H; Hatakeyama, Kinta K; Ohbayashi, Chiho C

Publication Date: 2022-03

Variant appearance in text: TP53: E346*

PubMed Link: 34665935

Variant Present in the following documents:

• Main text
• CNCY-130-202.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: 1036G>T; E346*

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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Multi-region exome sequencing reveals the intratumoral heterogeneity of surgically resected small cell lung cancer.

Nature Communications

Zhou, Huaqiang H; Hu, Yi Y; Luo, Rongzhen R; Zhao, Yuanyuan Y; Pan, Hui H; Ji, Liyan L; Zhou, Ting T; Zhang, Lanjun L; Long, Hao H; Fu, Jianhua J; Wen, Zhesheng Z; Wang, Siyu S; Wang, Xin X; Lin, Peng P; Yang, Haoxian H; Wang, Junye J; Song, Mengmeng M; Yi, Xin X; Yang, Ling L; Xia, Xuefang X; Guan, Yanfang Y; Fang, Wenfeng W; Yang, Yunpeng Y; Hong, Shaodong S; Huang, Yan Y; Li, Pansong P; Zhang, Yaxiong Y; Zhou, Ningning N

Publication Date: 2021-09-14

Variant appearance in text: TP53: 1036G>T; Glu346Ter

PubMed Link: 34521849

Variant Present in the following documents:

• 41467_2021_25787_MOESM10_ESM.xlsx, sheet 7
• 41467_2021_25787_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Multimodal liquid biopsy for early monitoring and outcome prediction of chemotherapy in metastatic breast cancer.

Npj Breast Cancer

Bortolini Silveira, Amanda A; Bidard, François-Clément FC; Tanguy, Marie-Laure ML; Girard, Elodie E; Trédan, Olivier O; Dubot, Coraline C; Jacot, William W; Goncalves, Anthony A; Debled, Marc M; Levy, Christelle C; Ferrero, Jean-Marc JM; Jouannaud, Christelle C; Rios, Maria M; Mouret-Reynier, Marie-Ange MA; Dalenc, Florence F; Hego, Caroline C; Rampanou, Aurore A; Albaud, Benoit B; Baulande, Sylvain S; Berger, Frédérique F; Lemonnier, Jérôme J; Renault, Shufang S; Desmoulins, Isabelle I; Proudhon, Charlotte C; Pierga, Jean-Yves JY

Publication Date: 2021-09-09

Variant appearance in text: TP53: 1036G>T; E346X

PubMed Link: 34504096

Variant Present in the following documents:

• 41523_2021_319_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: 1036G>T; E346*

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Circulating Tumor DNA Analyses Predict Disease Recurrence in Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Zhang, Jinghua J; Dai, Daofeng D; Tian, Junqiang J; Li, Lifeng L; Bai, Jing J; Xu, Yaping Y; Wang, Zhiping Z; Tang, Aifa A

Publication Date: 2021

Variant appearance in text: TP53: 1036G>T; E346*

PubMed Link: 33996580

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Signal Transduction And Targeted Therapy

Liu, Fatao F; Li, Yongsheng Y; Ying, Dongjian D; Qiu, Shimei S; He, Yong Y; Li, Maolan M; Liu, Yun Y; Zhang, Yijian Y; Zhu, Qin Q; Hu, Yunping Y; Liu, Liguo L; Li, Guoqiang G; Pan, Weihua W; Jin, Wei W; Mu, Jiasheng J; Cao, Yang Y; Liu, Yingbin Y

Publication Date: 2021-02-10

Variant appearance in text: TP53: Glu346*

PubMed Link: 33563892

Variant Present in the following documents:

• 41392_2020_412_MOESM3_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: 1036G>T; E346*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: TP53: E346*

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s002.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: E346X

PubMed Link: 33203900

Variant Present in the following documents:

• 41467_2020_19633_MOESM1_ESM.pdf

View BVdb publication page

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Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications

Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG

Publication Date: 2020-07-30

Variant appearance in text: TP53: E346*

PubMed Link: 32732999

Variant Present in the following documents:

• 41467_2020_17659_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: TP53: E346*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: TP53: 1036G>T; E346*

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Molecular Analysis of Clinically Defined Subsets of High-Grade Serous Ovarian Cancer.

Cell Reports

Lee, Sanghoon S; Zhao, Li L; Rojas, Christine C; Bateman, Nicholas W NW; Yao, Hui H; Lara, Olivia D OD; Celestino, Joseph J; Morgan, Margaret B MB; Nguyen, Tri V TV; Conrads, Kelly A KA; Rangel, Kelly M KM; Dood, Robert L RL; Hajek, Richard A RA; Fawcett, Gloria L GL; Chu, Randy A RA; Wilson, Katlin K; Loffredo, Jeremy L JL; Viollet, Coralie C; Jazaeri, Amir A AA; Dalgard, Clifton L CL; Mao, Xizeng X; Song, Xingzhi X; Zhou, Ming M; Hood, Brian L BL; Banskota, Nirad N; Wilkerson, Matthew D MD; Te, Jerez J; Soltis, Anthony R AR; Roman, Kristin K; Dunn, Andrew A; Cordover, David D; Eterovic, Agda Karina AK; Liu, Jinsong J; Burks, Jared K JK; Baggerly, Keith A KA; Fleming, Nicole D ND; Lu, Karen H KH; Westin, Shannon N SN; Coleman, Robert L RL; Mills, Gordon B GB; Casablanca, Yovanni Y; Zhang, Jianhua J; Conrads, Thomas P TP; Maxwell, George L GL; Futreal, P Andrew PA; Sood, Anil K AK

Publication Date: 2020-04-14

Variant appearance in text: TP53: E346X

PubMed Link: 32294438

Variant Present in the following documents:

• NIHMS1584940-supplement-3.xlsx, sheet 1

View BVdb publication page

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Simplified molecular classification of lung adenocarcinomas based on EGFR, KRAS, and TP53 mutations.

Bmc Cancer

Ruiz-Cordero, Roberto R; Ma, Junsheng J; Khanna, Abha A; Lyons, Genevieve G; Rinsurongkawong, Waree W; Bassett, Roland R; Guo, Ming M; Routbort, Mark J MJ; Zhang, Jianjun J; Skoulidis, Ferdinandos F; Heymach, John J; Roarty, Emily B EB; Tang, Zhenya Z; Medeiros, L Jeffrey LJ; Patel, Keyur P KP; Luthra, Rajyalakshmi R; Roy-Chowdhuri, Sinchita S

Publication Date: 2020-01-31

Variant appearance in text: TP53: E346*

PubMed Link: 32005111

Variant Present in the following documents:

• 12885_2020_6579_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: TP53: 1036G>T; E346*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Frontiers In Molecular Biosciences

Dehghani, Mehdi M; Rosenblatt, Kevin P KP; Li, Lei L; Rakhade, Mrudula M; Amato, Robert J RJ

Publication Date: 2019

Variant appearance in text: TP53: Glu346Ter

PubMed Link: 31681791

Variant Present in the following documents:

• Data_Sheet_8.xlsx, sheet 1

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: TP53: Glu346*

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted sequencing of circulating cell-free DNA in stage II-III resectable oesophageal squamous cell carcinoma patients.

Bmc Cancer

Meng, Pei P; Wei, Jiacong J; Geng, Yiqun Y; Chen, Shaobin S; Terpstra, Miente Martijn MM; Huang, Qiongyi Q; Zhang, Qian Q; Su, Zuoqing Z; Yu, Wanchun W; Su, Min M; Kok, Klaas K; van den Berg, Anke A; Gu, Jiang J

Publication Date: 2019-08-20

Variant appearance in text: TP53: 1036G>T; Glu346*

PubMed Link: 31429737

Variant Present in the following documents:

• Main text
• 12885_2019_6025_MOESM4_ESM.xlsx, sheet 1
• 12885_2019_Article_6025.pdf

View BVdb publication page

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An Integrated Next-Generation Sequencing System for Analyzing DNA Mutations, Gene Fusions, and RNA Expression in Lung Cancer.

Translational Oncology

Haynes, Brian C BC; Blidner, Richard A RA; Cardwell, Robyn D RD; Zeigler, Robert R; Gokul, Shobha S; Thibert, Julie R JR; Chen, Liangjing L; Fujimoto, Junya J; Papadimitrakopoulou, Vassiliki A VA; Wistuba, Ignacio I II; Latham, Gary J GJ

Publication Date: 2019-06

Variant appearance in text: TP53: E346*

PubMed Link: 30981944

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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The repertoire of genetic alterations in salivary duct carcinoma including a novel HNRNPH3-ALK rearrangement.

Human Pathology

Dogan, Snjezana S; Ng, Charlotte K Y CKY; Xu, Bin B; Kumar, Rahul R; Wang, Lu L; Edelweiss, Marcia M; Scott, Sasinya N SN; Zehir, Ahmet A; Drilon, Alexander A; Morris, Luc G T LGT; Lee, Nancy Y NY; Antonescu, Cristina R CR; Ho, Alan L AL; Katabi, Nora N; Berger, Michael F MF; Reis-Filho, Jorge S JS

Publication Date: 2019-06

Variant appearance in text: TP53: E346X

PubMed Link: 30946933

Variant Present in the following documents:

• Main text

View BVdb publication page

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From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Cold Spring Harbor Molecular Case Studies

Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C

Publication Date: 2019-08

Variant appearance in text: TP53: 1036G>T; E346*

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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Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene.

Peerj

Niyomnaitham, Suvimol S; Parinyanitikul, Napa N; Roothumnong, Ekkapong E; Jinda, Worapoj W; Samarnthai, Norasate N; Atikankul, Taywin T; Suktitipat, Bhoom B; Thongnoppakhun, Wanna W; Limwongse, Chanin C; Pithukpakorn, Manop M

Publication Date: 2019

Variant appearance in text: TP53: E346*

PubMed Link: 30828495

Variant Present in the following documents:

• peerj-07-6501-s001.xlsx, sheet 2

View BVdb publication page

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The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications

Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ

Publication Date: 2018-09-04

Variant appearance in text: TP53: E346*

PubMed Link: 30181556

Variant Present in the following documents:

• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 12
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 1
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: TP53: E346*

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports

Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; Brünner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L

Publication Date: 2017-11-10

Variant appearance in text: TP53: 1036G>T; E346*

PubMed Link: 29127303

Variant Present in the following documents:

• 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell

Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ

Publication Date: 2017-08-14

Variant appearance in text: TP53: E346*

PubMed Link: 28810143

Variant Present in the following documents:

• mmc4.xlsx, sheet 3

View BVdb publication page

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Genomic analysis of oesophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations.

Nature Communications

Chang, Jiang J; Tan, Wenle W; Ling, Zhiqiang Z; Xi, Ruibin R; Shao, Mingming M; Chen, Mengjie M; Luo, Yingying Y; Zhao, Yanjie Y; Liu, Yun Y; Huang, Xiancong X; Xia, Yuchao Y; Hu, Jinlin J; Parker, Joel S JS; Marron, David D; Cui, Qionghua Q; Peng, Linna L; Chu, Jiahui J; Li, Hongmin H; Du, Zhongli Z; Han, Yaling Y; Tan, Wen W; Liu, Zhihua Z; Zhan, Qimin Q; Li, Yun Y; Mao, Weimin W; Wu, Chen C; Lin, Dongxin D

Publication Date: 2017-05-26

Variant appearance in text: TP53: Glu346*

PubMed Link: 28548104

Variant Present in the following documents:

• ncomms15290-s4.xlsx, sheet 1

View BVdb publication page

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Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Genome Medicine

Chalmers, Zachary R ZR; Connelly, Caitlin F CF; Fabrizio, David D; Gay, Laurie L; Ali, Siraj M SM; Ennis, Riley R; Schrock, Alexa A; Campbell, Brittany B; Shlien, Adam A; Chmielecki, Juliann J; Huang, Franklin F; He, Yuting Y; Sun, James J; Tabori, Uri U; Kennedy, Mark M; Lieber, Daniel S DS; Roels, Steven S; White, Jared J; Otto, Geoffrey A GA; Ross, Jeffrey S JS; Garraway, Levi L; Miller, Vincent A VA; Stephens, Phillip J PJ; Frampton, Garrett M GM

Publication Date: 2017-04-19

Variant appearance in text: TP53: E346*

PubMed Link: 28420421

Variant Present in the following documents:

• 13073_2017_424_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Strong synergy with APR-246 and DNA-damaging drugs in primary cancer cells from patients with TP53 mutant High-Grade Serous ovarian cancer.

Journal Of Ovarian Research

Fransson, Åsa Å; Glaessgen, Daria D; Alfredsson, Jessica J; Wiman, Klas G KG; Bajalica-Lagercrantz, Svetlana S; Mohell, Nina N

Publication Date: 2016-05-14

Variant appearance in text: TP53: E346*

PubMed Link: 27179933

Variant Present in the following documents:

• Main text
• 13048_2016_Article_239.pdf

View BVdb publication page

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VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research

Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR

Publication Date: 2016-06-20

Variant appearance in text: TP53: 1036G>T; E346*

PubMed Link: 27060149

Variant Present in the following documents:

• supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2

View BVdb publication page

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REGene: a literature-based knowledgebase of animal regeneration that bridge tissue regeneration and cancer.

Scientific Reports

Zhao, Min M; Rotgans, Bronwyn B; Wang, Tianfang T; Cummins, S F SF

Publication Date: 2016-03-15

Variant appearance in text: TP53: E346*

PubMed Link: 26975833

Variant Present in the following documents:

• srep23167-s9.xls, sheet 1

View BVdb publication page

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Evaluation of two highly-multiplexed custom panels for massively parallel semiconductor sequencing on paraffin DNA.

Plos One

Kotoula, Vassiliki V; Lyberopoulou, Aggeliki A; Papadopoulou, Kyriaki K; Charalambous, Elpida E; Alexopoulou, Zoi Z; Gakou, Chryssa C; Lakis, Sotiris S; Tsolaki, Eleftheria E; Lilakos, Konstantinos K; Fountzilas, George G

Publication Date: 2015

Variant appearance in text: TP53: 1036G>T; E346*

PubMed Link: 26039550

Variant Present in the following documents:

View BVdb publication page

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

Nature Genetics

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

Publication Date: 2014-09

Variant appearance in text: TP53: 1036G>T; E346*

PubMed Link: 25086664

Variant Present in the following documents:

• NIHMS612904-supplement-2.xlsx, sheet 8

View BVdb publication page

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Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients.

Breast Cancer Research : Bcr

Lee, Daphne S C DS; Yoon, Sook-Yee SY; Looi, Lai Meng LM; Kang, Peter P; Kang, In Nee IN; Sivanandan, Kavitta K; Ariffin, Hany H; Thong, Meow Keong MK; Chin, Kin Fah KF; Mohd Taib, Nur Aishah NA; Yip, Cheng-Har CH; Teo, Soo-Hwang SH

Publication Date: 2012-04-16

Variant appearance in text: TP53: 1036G>T

PubMed Link: 22507745

Variant Present in the following documents:

• Main text
• bcr3172.pdf

View BVdb publication page

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