Publications:

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Blood tumor mutational burden and dynamic changes in circulating tumor DNA predict response to pembrolizumab treatment in advanced non-small cell lung cancer.

Translational Lung Cancer Research

Stensgaard, Simone S; Thomsen, Astrid A; Helstrup, Sofie S; Meldgaard, Peter P; Sorensen, Boe S BS

Publication Date: 2023-05-31

Variant appearance in text: TP53: 742C>G; Arg248Gly

PubMed Link: 37323168

Variant Present in the following documents:

• tlcr-12-05-971-supplementary.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: TP53: 742C>G; Arg248Gly; rs121912651

PubMed Link: 36922933

Variant Present in the following documents:

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

View BVdb publication page

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

Cancer Discovery

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

Publication Date: 2023-03-02

Variant appearance in text: TP53: 742C>G; Arg248Gly; rs121912651

PubMed Link: 36862804

Variant Present in the following documents:

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

View BVdb publication page

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

Frontiers In Oncology

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

Publication Date: 2023

Variant appearance in text: rs121912651

PubMed Link: 36845679

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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: 742C>G; Arg248Gly

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: 742C>G; R248G

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: R248G

PubMed Link: 36755027

Variant Present in the following documents:

• 41467_2023_36328_MOESM6_ESM.xlsx, sheet 1
• 41467_2023_36328_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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C-Terminal p53 Palindromic Tetrapeptide Restores Full Apoptotic Function to Mutant p53 Cancer Cells In Vitro and In Vivo.

Biomedicines

Fine, Robert L RL; Mao, Yuehua Y; Dinnen, Richard R; Rosal, Ramon V RV; Raffo, Anthony A; Hochfeld, Uri U; Senatus, Patrick P; Bruce, Jeffrey N JN; Nichols, Gwen G; Wang, Hsin H; Li, Yongliang Y; Brandt-Rauf, Paul W PW

Publication Date: 2023-01-05

Variant appearance in text: p53: R248G

PubMed Link: 36672645

Variant Present in the following documents:

• Main text
• biomedicines-11-00137.pdf

View BVdb publication page

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Pediatric high-grade glioma MYCN is frequently associated with Li-Fraumeni syndrome.

Acta Neuropathologica Communications

Guerrini-Rousseau, Léa L; Tauziède-Espariat, Arnault A; Castel, David D; Rouleau, Etienne E; Sievers, Philipp P; Saffroy, Raphaël R; Beccaria, Kévin K; Blauwblomme, Thomas T; Hasty, Lauren L; Bourdeaut, Franck F; Grill, Jacques J; Varlet, Pascale P; Debily, Marie-Anne MA

Publication Date: 2023-01-06

Variant appearance in text: TP53: 742C>G

PubMed Link: 36609284

Variant Present in the following documents:

• Main text
• 40478_2022_Article_1490.pdf

View BVdb publication page

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The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Nature Cancer

Villani, Anita A; Davidson, Scott S; Kanwar, Nisha N; Lo, Winnie W WW; Li, Yisu Y; Cohen-Gogo, Sarah S; Fuligni, Fabio F; Edward, Lisa-Monique LM; Light, Nicholas N; Layeghifard, Mehdi M; Harripaul, Ricardo R; Waldman, Larissa L; Gallinger, Bailey B; Comitani, Federico F; Brunga, Ledia L; Hayes, Reid R; Anderson, Nathaniel D ND; Ramani, Arun K AK; Yuki, Kyoko E KE; Blay, Sasha S; Johnstone, Brittney B; Inglese, Cara C; Hammad, Rawan R; Goudie, Catherine C; Shuen, Andrew A; Wasserman, Jonathan D JD; Venier, Rosemarie E RE; Eliou, Marianne M; Lorenti, Miranda M; Ryan, Carol Ann CA; Braga, Michael M; Gloven-Brown, Meagan M; Han, Jianan J; Montero, Maria M; Spatare, Famida F; Whitlock, James A JA; Scherer, Stephen W SW; Chun, Kathy K; Somerville, Martin J MJ; Hawkins, Cynthia C; Abdelhaleem, Mohamed M; Ramaswamy, Vijay V; Somers, Gino R GR; Kyriakopoulou, Lianna L; Hitzler, Johann J; Shago, Mary M; Morgenstern, Daniel A DA; Tabori, Uri U; Meyn, Stephen S; Irwin, Meredith S MS; Malkin, David D; Shlien, Adam A

Publication Date: 2022-12-30

Variant appearance in text: TP53: R248G

PubMed Link: 36585449

Variant Present in the following documents:

• 43018_2022_474_MOESM2_ESM.xlsx, sheet 11
• 43018_2022_474_MOESM7_ESM.xlsx, sheet 11
• 43018_2022_474_MOESM3_ESM.xlsx, sheet 11
• 43018_2022_474_MOESM10_ESM.xlsx, sheet 11
• 43018_2022_474_MOESM12_ESM.xlsx, sheet 11

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: R248G

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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Unraveling the Structural Changes in the DNA-Binding Region of Tumor Protein p53 (TP53) upon Hotspot Mutation p53 Arg248 by Comparative Computational Approach.

International Journal Of Molecular Sciences

Balasundaram, Ambritha A; Doss, C George Priya CGP

Publication Date: 2022-12-07

Variant appearance in text: p53: R248G

PubMed Link: 36555140

Variant Present in the following documents:

• Main text
• ijms-23-15499.pdf

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: 742C>G; R248G

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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A sex-informed approach to improve the personalised decision making process in myelodysplastic syndromes: a multicentre, observational cohort study.

The Lancet. Haematology

,

Publication Date: 2022-11-24

Variant appearance in text: TP53: 742C>G

PubMed Link: 36436542

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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: R248G

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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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: 742C>G; R248G; rs121912651

PubMed Link: 36264285

Variant Present in the following documents:

• CAC2-42-1367-s002.xlsx, sheet 3

View BVdb publication page

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Genetic susceptibility of bladder cancer in the Lebanese population.

Bmc Medical Genomics

Kourie, Hampig Raphael HR; Succar, Bahaa B; Chouery, Eliane E; Mehawej, Cybel C; Ahmadieh, Nizar N; Zouein, Joseph J; Mardirossian, Avedis A; Jalkh, Nadine N; Sleilaty, Ghassan G; Kattan, Joseph J; Nemr, Elie E

Publication Date: 2022-10-17

Variant appearance in text: rs121912651

PubMed Link: 36253817

Variant Present in the following documents:

• 12920_2022_1372_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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bMSAF is a prognostic predictor for advanced hepatocellular carcinoma patients treated with immune checkpoint inhibitor camrelizumab and anti-angiogenic agent apatinib combination therapy.

Clinical And Translational Medicine

Xu, Gehan G; Cui, Liang L; Li, Jin J; Wang, Quanren Q; Li, Pansong P; Xia, Xuefeng X; Yi, Xin X; Guan, Quanlin Q; Xu, Jianming J

Publication Date: 2022-10

Variant appearance in text: TP53: 742C>G; R248G

PubMed Link: 36245284

Variant Present in the following documents:

• CTM2-12-e1086-s010.xlsx, sheet 7
• CTM2-12-e1086-s010.xlsx, sheet 4

View BVdb publication page

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A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Frontiers In Molecular Biosciences

Ng, Cedric Chuan-Young CC; Lim, Sandy S; Lim, Abner Herbert AH; Md Nasir, Nur Diyana ND; Zhang, Jingxian J; Rajasegaran, Vikneswari V; Lee, Jing Yi JY; Kok, Jessica Sook Ting JST; Thike, Aye Aye AA; Lim, Johnathan Xiande JX; Weng, Ruifen R; Yee, Sidney S; Choudhury, Yukti Y; Chan, Jason Yongsheng JY; Tan, Puay Hoon PH; Tan, Min-Han MH; Teh, Bin Tean BT

Publication Date: 2022

Variant appearance in text: TP53: 742C>G; Arg248Gly

PubMed Link: 36213130

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 4

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: R248G

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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AhRR methylation contributes to disease progression in urothelial bladder cancer.

Cancer Biomarkers : Section A Of Disease Markers

El-Haddad, Nataly W NW; El Kawak, Michelle M; El Asmar, Khalil K; Jabbour, Michel E ME; Moussa, Mohamad A MA; Habib, Rima R RR; Dhaini, Hassan R HR

Publication Date: 2022

Variant appearance in text: rs121912651

PubMed Link: 36093686

Variant Present in the following documents:

• Main text
• cbm-35-cbm220002.pdf

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: R248G

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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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: 742C>G; Arg248Gly

PubMed Link: 35961859

Variant Present in the following documents:

• HON-40-962-s001.xlsx, sheet 1

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: R248G

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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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: 742C>G; R248G

PubMed Link: 35814426

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

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: R248G

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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Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: TP53: 742C>G; R248G

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

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: 742C>G; R248G

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

View BVdb publication page

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Case Report: An "Immune-Cold" EGFR Mutant NSCLC With Strong PD-L1 Expression Shows Resistance to Chemo-Immunotherapy.

Frontiers In Oncology

Zhao, Qian Q; Zhang, Xue X; Ma, Qiang Q; Luo, Nuo N; Liu, Zhulin Z; Wang, Renyuan R; He, Yong Y; Li, Li L

Publication Date: 2022

Variant appearance in text: TP53: R248G

PubMed Link: 35273908

Variant Present in the following documents:

• Main text
• fonc-12-765997.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: 742C>G; R248G

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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Essential roles of exosome and circRNA_101093 on ferroptosis desensitization in lung adenocarcinoma.

Cancer Communications (London, England)

Zhang, Xiao X; Xu, Yunhua Y; Ma, Lifang L; Yu, Keke K; Niu, Yongjie Y; Xu, Xin X; Shi, Yi Y; Guo, Susu S; Xue, Xiangfei X; Wang, Yikun Y; Qiu, Shiyu S; Cui, Jiangtao J; Wang, Hong H; Tian, Xiaoting X; Miao, Yayou Y; Meng, Fanyu F; Qiao, Yongxia Y; Yu, Yongchun Y; Wang, Jiayi J

Publication Date: 2022-04

Variant appearance in text: TP53: R248G

PubMed Link: 35184419

Variant Present in the following documents:

• Main text
• CAC2-42-287.pdf

View BVdb publication page

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Malignant solitary fibrous tumor in the central nervous system treated with surgery, radiotherapy and anlotinib: A case report.

World Journal Of Clinical Cases

Zhang, Dong-Yong DY; Su, Lan L; Wang, Yi-Wei YW

Publication Date: 2022-01-14

Variant appearance in text: TP53: R248G

PubMed Link: 35097089

Variant Present in the following documents:

• WJCC-10-631.pdf

View BVdb publication page

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Clonal dynamics of BRAF-driven drug resistance in EGFR-mutant lung cancer.

Npj Precision Oncology

Schaufler, Diana D; Ast, David F DF; Tumbrink, Hannah L HL; Abedpour, Nima N; Maas, Lukas L; Schwäbe, Ayla E AE; Spille, Inga I; Lennartz, Stefanie S; Fassunke, Jana J; Aldea, Mihaela M; Besse, Benjamin B; Planchard, David D; Nogova, Lucia L; Michels, Sebastian S; Kobe, Carsten C; Persigehl, Thorsten T; Westphal, Theresa T; Koleczko, Sophia S; Fischer, Rieke R; Weber, Jan-Phillip JP; Altmüller, Janine J; Thomas, Roman K RK; Merkelbach-Bruse, Sabine S; Gautschi, Oliver O; Mezquita, Laura L; Büttner, Reinhard R; Wolf, Jürgen J; Peifer, Martin M; Brägelmann, Johannes J; Scheffler, Matthias M; Sos, Martin L ML

Publication Date: 2021-12-17

Variant appearance in text: TP53: R248G

PubMed Link: 34921211

Variant Present in the following documents:

• Main text
• 41698_2021_Article_241.pdf

View BVdb publication page

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Clonal dynamics of BRAF-driven drug resistance in EGFR-mutant lung cancer.

Npj Precision Oncology

Schaufler, Diana D; Ast, David F DF; Tumbrink, Hannah L HL; Abedpour, Nima N; Maas, Lukas L; Schwäbe, Ayla E AE; Spille, Inga I; Lennartz, Stefanie S; Fassunke, Jana J; Aldea, Mihaela M; Besse, Benjamin B; Planchard, David D; Nogova, Lucia L; Michels, Sebastian S; Kobe, Carsten C; Persigehl, Thorsten T; Westphal, Theresa T; Koleczko, Sophia S; Fischer, Rieke R; Weber, Jan-Phillip JP; Altmüller, Janine J; Thomas, Roman K RK; Merkelbach-Bruse, Sabine S; Gautschi, Oliver O; Mezquita, Laura L; Büttner, Reinhard R; Wolf, Jürgen J; Peifer, Martin M; Brägelmann, Johannes J; Scheffler, Matthias M; Sos, Martin L ML

Publication Date: 2021-12-17

Variant appearance in text: TP53: R248G

PubMed Link: 34921211

Variant Present in the following documents:

• Main text
• 41698_2021_Article_241.pdf

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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: 742C>G

PubMed Link: 34875674

Variant Present in the following documents:

• 41586_2021_4278_MOESM4_ESM.xlsx, sheet 2

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Persistence of ctDNA in Patients with Breast Cancer During Neoadjuvant Treatment Is a Significant Predictor of Poor Tumor Response.

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

Zhou, Qing Q; Gampenrieder, Simon P SP; Frantal, Sophie S; Rinnerthaler, Gabriel G; Singer, Christian F CF; Egle, Daniel D; Pfeiler, Georg G; Bartsch, Rupert R; Wette, Viktor V; Pichler, Angelika A; Petru, Edgar E; Dubsky, Peter C PC; Bago-Horvath, Zsuzsanna Z; Fesl, Christian C; Rudas, Margaretha M; Ståhlberg, Anders A; Graf, Ricarda R; Weber, Sabrina S; Dandachi, Nadia N; Filipits, Martin M; Gnant, Michael M; Balic, Marija M; Heitzer, Ellen E

Publication Date: 2022-02-15

Variant appearance in text: TP53: 742C>G; Arg248Gly

PubMed Link: 34862246

Variant Present in the following documents:

• ccr-21-3231_table_s2_supps2.xlsx, sheet 1

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Generation of in situ CRISPR-mediated primary and metastatic cancer from monkey liver.

Signal Transduction And Targeted Therapy

Zhong, Liping L; Huang, Yong Y; He, Jian J; Yang, Nuo N; Xu, Banghao B; Ma, Yun Y; Liu, Junjie J; Tang, Chao C; Luo, Chengpiao C; Wu, Pan P; Lai, Zongqiang Z; Huo, Yu Y; Lu, Tao T; Huang, Dongni D; Gong, Wenlin W; Gan, Lu L; Luo, Yiqun Y; Zhang, Zhikun Z; Liu, Xiyu X; Zhao, Yongxiang Y

Publication Date: 2021-12-03

Variant appearance in text: p53: R248G

PubMed Link: 34857736

Variant Present in the following documents:

• Main text

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Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Laboratory Investigation; A Journal Of Technical Methods And Pathology

Kim, Hyunhee H; Lim, Ka Young KY; Park, Jin Woo JW; Kang, Jeongwan J; Won, Jae Kyung JK; Lee, Kwanghoon K; Shim, Yumi Y; Park, Chul-Kee CK; Kim, Seung-Ki SK; Choi, Seung-Hong SH; Kim, Tae Min TM; Yun, Hongseok H; Park, Sung-Hye SH

Publication Date: 2022-02

Variant appearance in text: TP53: 742C>G

PubMed Link: 34848827

Variant Present in the following documents:

• Main text
• 41374_2021_Article_694.pdf

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Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Laboratory Investigation; A Journal Of Technical Methods And Pathology

Kim, Hyunhee H; Lim, Ka Young KY; Park, Jin Woo JW; Kang, Jeongwan J; Won, Jae Kyung JK; Lee, Kwanghoon K; Shim, Yumi Y; Park, Chul-Kee CK; Kim, Seung-Ki SK; Choi, Seung-Hong SH; Kim, Tae Min TM; Yun, Hongseok H; Park, Sung-Hye SH

Publication Date: 2021-11-30

Variant appearance in text: TP53: 742C>G

PubMed Link: 34848827

Variant Present in the following documents:

• Main text
• 41374_2021_Article_694.pdf

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Replication catastrophe is responsible for intrinsic PAR glycohydrolase inhibitor-sensitivity in patient-derived ovarian cancer models.

Journal Of Experimental & Clinical Cancer Research : Cr

Coulson-Gilmer, Camilla C; Morgan, Robert D RD; Nelson, Louisa L; Barnes, Bethany M BM; Tighe, Anthony A; Wardenaar, René R; Spierings, Diana C J DCJ; Schlecht, Helene H; Burghel, George J GJ; Foijer, Floris F; Desai, Sudha S; McGrail, Joanne C JC; Taylor, Stephen S SS

Publication Date: 2021-10-16

Variant appearance in text: p53: R248G

PubMed Link: 34656146

Variant Present in the following documents:

• 13046_2021_2124_MOESM10_ESM.pdf

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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: R248G

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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A phase II study of poziotinib in patients with recurrent and/or metastatic head and neck squamous cell carcinoma.

Cancer Medicine

Lee, Ji Hyun JH; Heo, Seong Gu SG; Ahn, Beung-Chul BC; Hong, Min Hee MH; Cho, Byoung Chul BC; Lim, Sun Min SM; Kim, Hye Ryun HR

Publication Date: 2021-10

Variant appearance in text: TP53: R248G

PubMed Link: 34528763

Variant Present in the following documents:

• Main text
• CAM4-10-7012.pdf

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A phase II study of poziotinib in patients with recurrent and/or metastatic head and neck squamous cell carcinoma.

Cancer Medicine

Lee, Ji Hyun JH; Heo, Seong Gu SG; Ahn, Beung-Chul BC; Hong, Min Hee MH; Cho, Byoung Chul BC; Lim, Sun Min SM; Kim, Hye Ryun HR

Publication Date: 2021-10

Variant appearance in text: TP53: R248G

PubMed Link: 34528763

Variant Present in the following documents:

• Main text
• CAM4-10-7012.pdf

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Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications

Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G

Publication Date: 2021-08-31

Variant appearance in text: TP53: 742C>G; R248G

PubMed Link: 34465776

Variant Present in the following documents:

• 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2
• 41467_2021_25405_MOESM9_ESM.xlsx, sheet 1

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Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Scientific Reports

Khoruddin, Nurul Ain NA; Noorizhab, Mohd NurFakhruzzaman MN; Teh, Lay Kek LK; Mohd Yusof, Farida Zuraina FZ; Salleh, Mohd Zaki MZ

Publication Date: 2021-08-09

Variant appearance in text: rs121912651

PubMed Link: 34373545

Variant Present in the following documents:

• 41598_2021_95618_MOESM1_ESM.xlsx, sheet 1

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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: TP53: R248G

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

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Immuno-genomic classification of colorectal cancer organoids reveals cancer cells with intrinsic immunogenic properties associated with patient survival.

Journal Of Experimental & Clinical Cancer Research : Cr

Cho, Eun Jeong EJ; Kim, Minsuh M; Jo, Daum D; Kim, Jihye J; Oh, Ji-Hye JH; Chung, Hee Chul HC; Lee, Sun-Hye SH; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jihun J; Lee, Hyeonjin H; Kim, Tae Won TW; Yu, Chang Sik CS; Sung, Chang Ohk CO; Jang, Se Jin SJ

Publication Date: 2021-07-13

Variant appearance in text: p53: R248G

PubMed Link: 34256801

Variant Present in the following documents:

• Main text
• 13046_2021_Article_2034.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: 742C>G; R248G

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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Identification of Somatic Genetic Alterations Using Whole-Exome Sequencing of Uterine Leiomyosarcoma Tumors.

Frontiers In Oncology

Chen, Lihua L; Li, Jiajia J; Wu, Xiaohua X; Zheng, Zhong Z

Publication Date: 2021

Variant appearance in text: rs121912651

PubMed Link: 34178683

Variant Present in the following documents:

• Main text

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A computational method for prioritizing targeted therapies in precision oncology: performance analysis in the SHIVA01 trial.

Npj Precision Oncology

Petak, Istvan I; Kamal, Maud M; Dirner, Anna A; Bieche, Ivan I; Doczi, Robert R; Mariani, Odette O; Filotas, Peter P; Salomon, Anne A; Vodicska, Barbara B; Servois, Vincent V; Varkondi, Edit E; Gentien, David D; Tihanyi, Dora D; Tresca, Patricia P; Lakatos, Dora D; Servant, Nicolas N; Deri, Julia J; du Rusquec, Pauline P; Hegedus, Csilla C; Bello Roufai, Diana D; Schwab, Richard R; Dupain, Celia C; Valyi-Nagy, Istvan T IT; Le Tourneau, Christophe C

Publication Date: 2021-06-23

Variant appearance in text: TP53: R248G

PubMed Link: 34162980

Variant Present in the following documents:

• 41698_2021_191_MOESM7_ESM.xlsx, sheet 1

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Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology

Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN

Publication Date: 2021

Variant appearance in text: TP53: R248G

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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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: R248G

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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Circulating Tumor DNA Reflects Uveal Melanoma Responses to Protein Kinase C Inhibition.

Cancers

Park, John J JJ; Diefenbach, Russell J RJ; Byrne, Natalie N; Long, Georgina V GV; Scolyer, Richard A RA; Gray, Elin S ES; Carlino, Matteo S MS; Rizos, Helen H

Publication Date: 2021-04-06

Variant appearance in text: TP53: R248G

PubMed Link: 33917514

Variant Present in the following documents:

• Main text

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Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: TP53: R248G

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1

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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: R248G

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

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Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Frontiers In Oncology

Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R

Publication Date: 2021

Variant appearance in text: TP53: R248G

PubMed Link: 33747920

Variant Present in the following documents:

• Main text
• fonc-11-606820.pdf

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