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: CDKN2A: D84N

PubMed Link: 36949200

Variant Present in the following documents:

• 41586_2023_5820_MOESM4_ESM.xlsx, sheet 3

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: CDKN2A: 250G>A; D84N

PubMed Link: 36755027

Variant Present in the following documents:

• 41467_2023_36328_MOESM6_ESM.xlsx, sheet 1

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: CDKN2A: 250G>A; D84N

PubMed Link: 36505399

Variant Present in the following documents:

• Table_2.xlsx, sheet 2

View BVdb publication page

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

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: CDKN2A: D84N

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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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: CDKN2A: D84N

PubMed Link: 36351408

Variant Present in the following documents:

• NIHMS1848910-supplement-2.xlsx, sheet 3

View BVdb publication page

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Comprehensive clinicopathological and genomic profiling of gallbladder cancer reveals actionable targets in half of patients.

Npj Precision Oncology

de Bitter, Tessa J J TJJ; de Reuver, Philip R PR; de Savornin Lohman, Elise A J EAJ; Kroeze, Leonie I LI; Vink-Börger, Marianne E ME; van Vliet, Shannon S; Simmer, Femke F; von Rhein, Daniel D; Jansen, Erik A M EAM; Verheij, Joanne J; van Herpen, Carla M L CML; Nagtegaal, Iris D ID; Ligtenberg, Marjolijn J L MJL; van der Post, Rachel S RS

Publication Date: 2022-11-05

Variant appearance in text: CDKN2A: 250G>A; Asp84Asn

PubMed Link: 36335173

Variant Present in the following documents:

• 41698_2022_327_MOESM2_ESM.xlsx, sheet 3

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: CDKN2A: D84N

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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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: CDKN2A: D84N

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: CDKN2A: 250G>A; D84N

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: CDKN2A: 250G>A; D84N

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

View BVdb publication page

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Evaluation of Targeted Next-Generation Sequencing for the Management of Patients Diagnosed with a Cancer of Unknown Primary.

The Oncologist

Fusco, Michael J MJ; Knepper, Todd C TC; Balliu, Juliana J; Del Cueto, Alex A; Laborde, Jose M JM; Hooda, Sharjeel M SM; Brohl, Andrew S AS; Bui, Marilyn M MM; Hicks, J Kevin JK

Publication Date: 2022-02-03

Variant appearance in text: p16INK4a: D84N

PubMed Link: 35305098

Variant Present in the following documents:

• oyab014_suppl_supplementary_appendix_1.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: CDKN2A: 250G>A; D84N

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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

Nature Biotechnology

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

Publication Date: 2022-06

Variant appearance in text: CDKN2A: D84N

PubMed Link: 35165384

Variant Present in the following documents:

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

View BVdb publication page

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Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.

Elife

Kimura, Hirokazu H; Paranal, Raymond M RM; Nanda, Neha N; Wood, Laura D LD; Eshleman, James R JR; Hruban, Ralph H RH; Goggins, Michael G MG; Klein, Alison P AP; Roberts, Nicholas Jason NJ

Publication Date: 2022-01-10

Variant appearance in text: CDKN2A: 250G>A; Asp84Asn

PubMed Link: 35001868

Variant Present in the following documents:

• Main text
• elife-71137.pdf
• elife-71137-supp3.xlsx, sheet 1
• elife-71137-supp1.xlsx, sheet 1

View BVdb publication page

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Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.

Elife

Kimura, Hirokazu H; Paranal, Raymond M RM; Nanda, Neha N; Wood, Laura D LD; Eshleman, James R JR; Hruban, Ralph H RH; Goggins, Michael G MG; Klein, Alison P AP; , ; Roberts, Nicholas J NJ

Publication Date: 2022-01-10

Variant appearance in text: CDKN2A: 250G>A; Asp84Asn

PubMed Link: 35001868

Variant Present in the following documents:

• Main text
• elife-71137.pdf
• elife-71137-supp3.xlsx, sheet 1
• elife-71137-supp1.xlsx, sheet 1

View BVdb publication page

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BIRC2-BIRC3 amplification: a potentially druggable feature of a subset of head and neck cancers in patients with Fanconi anemia.

Scientific Reports

Roohollahi, Khashayar K; de Jong, Yvonne Y; Pai, Govind G; Zaini, Mohamad Amr MA; de Lint, Klaas K; Sie, Daoud D; Rooimans, Martin A MA; Rockx, Davy D; Hoskins, Elizabeth E EE; Ameziane, Najim N; Wolthuis, Rob R; Joenje, Hans H; Wells, Susanne I SI; Dorsman, Josephine J

Publication Date: 2022-01-07

Variant appearance in text: CDKN2A: D84N

PubMed Link: 34997070

Variant Present in the following documents:

• 41598_2021_4042_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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BIRC2-BIRC3 amplification: a potentially druggable feature of a subset of head and neck cancers in patients with Fanconi anemia.

Scientific Reports

Roohollahi, Khashayar K; de Jong, Yvonne Y; Pai, Govind G; Zaini, Mohamad Amr MA; de Lint, Klaas K; Sie, Daoud D; Rooimans, Martin A MA; Rockx, Davy D; Hoskins, Elizabeth E EE; Ameziane, Najim N; Wolthuis, Rob R; Joenje, Hans H; Wells, Susanne I SI; Dorsman, Josephine J

Publication Date: 2022-01-07

Variant appearance in text: CDKN2A: D84N

PubMed Link: 34997070

Variant Present in the following documents:

• 41598_2021_4042_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Utilizing phenotypic characteristics of metastatic brain tumors to improve the probability of detecting circulating tumor DNA from cerebrospinal fluid in non-small-cell lung cancer patients: development and validation of a prediction model in a prospective cohort study.

Esmo Open

Li, M M; Hou, X X; Zheng, L L; Ma, Y Y; Li, D D; Lv, Y Y; Chen, J J; Zheng, W W; Shao, Y Y; Mou, Y Y; Chen, L L

Publication Date: 2022-02

Variant appearance in text: CDKN2A: D84N

PubMed Link: 34922300

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: CDKN2A: 250G>A; Asp84Asn

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.

Frontiers In Oncology

Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L

Publication Date: 2021

Variant appearance in text: CDKN2A: 250G>A; D84N

PubMed Link: 34858840

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: CDKN2A: D84N

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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: CDKN2A: D84N

PubMed Link: 34625620

Variant Present in the following documents:

• 41598_2021_Article_99524.pdf

View BVdb publication page

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The value of comprehensive genomic sequencing to maximize the identification of clinically actionable alterations in advanced cancer patients: a case series.

Oncotarget

Drenner, Kevin K; Basu, Gargi D GD; Goodman, Laurie J LJ; Ozols, Audrey A AA; LoBello, Janine R JR; Royce, Thomas T; Gordon, Michael S MS; Borazanci, Erkut H EH; Steinbach, Margaux A MA; Trent, Jeffrey J; Sharma, Sunil S

Publication Date: 2021-08-31

Variant appearance in text: CDKN2A: D84N

PubMed Link: 34504655

Variant Present in the following documents:

• Main text
• oncotarget-12-1836.pdf

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: CDKN2A: 250G>A; D84N

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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Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.

Therapeutic Advances In Medical Oncology

Scheipl, Susanne S; Brcic, Iva I; Moser, Tina T; Fischerauer, Stefan S; Riedl, Jakob J; Bergovec, Marko M; Smolle, Maria M; Posch, Florian F; Gerger, Armin A; Pichler, Martin M; Stoeger, Herbert H; Leithner, Andreas A; Heitzer, Ellen E; Liegl-Atzwanger, Bernadette B; Szkandera, Joanna J

Publication Date: 2021

Variant appearance in text: CDKN2A: D84N

PubMed Link: 34367342

Variant Present in the following documents:

• sj-xlsx-1-tam-10.1177_17588359211029125.xlsx, sheet 1

View BVdb publication page

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Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.

Frontiers In Oncology

Zhang, Shirong S; Xu, Yang Y; Zhao, Pan P; Bao, Hua H; Wang, Xiyong X; Liu, Rui R; Xu, Rujun R; Xiang, Jingjing J; Jiang, Hong H; Yan, Junrong J; Wu, Xue X; Shao, Yang Y; Liang, Jiafeng J; Wu, Qiong Q; Zhang, Zhihao Z; Lu, Shun S; Ma, Shenglin S

Publication Date: 2021

Variant appearance in text: CDKN2A: 250G>A; D84N

PubMed Link: 34221970

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Correlation Between the Evolution of Somatic Alterations During Lymphatic Metastasis and Clinical Outcome in Penile Squamous Cell Carcinoma.

Frontiers In Oncology

Cao, Jian J; Yang, Chun-He CH; Han, Wei-Qing WQ; Xie, Yu Y; Liu, Zhi-Zhong ZZ; Jiang, Shu-Suan SS

Publication Date: 2021

Variant appearance in text: CDKN2A: 250G>A; D84N

PubMed Link: 34150614

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: CDKN2A: D84N

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 18
• Table_1.xlsx, sheet 17
• Table_1.xlsx, sheet 2

View BVdb publication page

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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: CDKN2A: D84N

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

View BVdb publication page

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Occurence of RAS reversion in metastatic colorectal cancer patients treated with bevacizumab.

Oncotarget

Epistolio, Samantha S; Cefalì, Marco M; Spina, Paolo P; Molinari, Francesca F; Movilia, Alessandra A; Cergnul, Massimiliano M; Mazzucchelli, Luca L; De Dosso, Sara S; Frattini, Milo M; Saletti, Piercarlo P

Publication Date: 2021-05-25

Variant appearance in text: CDKN2A: D84N

PubMed Link: 34084279

Variant Present in the following documents:

• oncotarget-12-1046.pdf

View BVdb publication page

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Resistance to Targeted Therapy and RASSF1A Loss in Melanoma: What Are We Missing?

International Journal Of Molecular Sciences

McKenna, Stephanie S; García-Gutiérrez, Lucía L

Publication Date: 2021-05-12

Variant appearance in text: CDKN2A: D84N

PubMed Link: 34066022

Variant Present in the following documents:

• Main text
• ijms-22-05115.pdf

View BVdb publication page

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Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations.

Oncotarget

Joshi, Asim A; Mishra, Rohit R; Desai, Sanket S; Chandrani, Pratik P; Kore, Hitesh H; Sunder, Roma R; Hait, Supriya S; Iyer, Prajish P; Trivedi, Vaishakhi V; Choughule, Anuradha A; Noronha, Vanita V; Joshi, Amit A; Patil, Vijay V; Menon, Nandini N; Kumar, Rajiv R; Prabhash, Kumar K; Dutt, Amit A

Publication Date: 2021-03-16

Variant appearance in text: CDKN2A: D84N

PubMed Link: 33796225

Variant Present in the following documents:

• oncotarget-12-578-s003.xlsx, sheet 1
• oncotarget-12-578-s005.xlsx, sheet 1

View BVdb publication page

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Association of tumor mutation burden and epidermal growth factor receptor inhibitor history with survival in patients with metastatic stage III/IV non-small-cell lung cancer: A retrospective study.

Clinics (Sao Paulo, Brazil)

Lan, Yan Y; Zhou, Shuo S; Feng, Weihong W; Qiao, Ying Y; Du, Xueming X; Li, Fenge F

Publication Date: 2021

Variant appearance in text: CDKN2A: 250G>A; D84N

PubMed Link: 33787673

Variant Present in the following documents:

• Main text
• cln-76-2251.pdf

View BVdb publication page

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: CDKN2A: 250G>A; D84N

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: CDKN2A: D84N

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

View BVdb publication page

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Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.

Nature Communications

Vandekerkhove, Gillian G; Lavoie, Jean-Michel JM; Annala, Matti M; Murtha, Andrew J AJ; Sundahl, Nora N; Walz, Simon S; Sano, Takeshi T; Taavitsainen, Sinja S; Ritch, Elie E; Fazli, Ladan L; Hurtado-Coll, Antonio A; Wang, Gang G; Nykter, Matti M; Black, Peter C PC; Todenhöfer, Tilman T; Ost, Piet P; Gibb, Ewan A EA; Chi, Kim N KN; Eigl, Bernhard J BJ; Wyatt, Alexander W AW

Publication Date: 2021-01-08

Variant appearance in text: CDKN2A: D84N

PubMed Link: 33420073

Variant Present in the following documents:

• 41467_2020_20493_MOESM3_ESM.xlsx, sheet 4
• 41467_2020_20493_MOESM3_ESM.xlsx, sheet 7

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: CDKN2A: 250G>A; D84N

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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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: CDKN2A: 250G>A; D84N

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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The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology

Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S

Publication Date: 2020

Variant appearance in text: CDKN2A: D84N

PubMed Link: 33133066

Variant Present in the following documents:

• Table_6.xlsx, sheet 7
• Table_6.xlsx, sheet 2
• Table_1.xlsx, sheet 2

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs11552822

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of new driver and passenger mutations within APOBEC-induced hotspot mutations in bladder cancer.

Genome Medicine

Shi, Ming-Jun MJ; Meng, Xiang-Yu XY; Fontugne, Jacqueline J; Chen, Chun-Long CL; Radvanyi, François F; Bernard-Pierrot, Isabelle I

Publication Date: 2020-09-28

Variant appearance in text: CDKN2A: 250G>A; D84N

PubMed Link: 32988402

Variant Present in the following documents:

• 13073_2020_781_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Specific TP53 subtype as biomarker for immune checkpoint inhibitors in lung adenocarcinoma.

Ebiomedicine

Sun, Hao H; Liu, Si-Yang SY; Zhou, Jia-Ying JY; Xu, Jin-Tian JT; Zhang, Huang-Kai HK; Yan, Hong-Hong HH; Huan, Jiao-Jiao JJ; Dai, Ping-Ping PP; Xu, Chong-Rui CR; Su, Jian J; Guan, Yan-Fang YF; Yi, Xin X; Yu, Rong-Shan RS; Zhong, Wen-Zhao WZ; Wu, Yi-Long YL

Publication Date: 2020-10

Variant appearance in text: CDKN2A: 250G>A; D84N

PubMed Link: 32927274

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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: CDKN2A: D84N

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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Genomic landscape of metastatic breast cancer identifies preferentially dysregulated pathways and targets.

The Journal Of Clinical Investigation

Paul, Matt R MR; Pan, Tien-Chi TC; Pant, Dhruv K DK; Shih, Natalie Nc NN; Chen, Yan Y; Harvey, Kyra L KL; Solomon, Aaron A; Lieberman, David D; Morrissette, Jennifer Jd JJ; Soucier-Ernst, Danielle D; Goodman, Noah G NG; Stavropoulos, S William SW; Maxwell, Kara N KN; Clark, Candace C; Belka, George K GK; Feldman, Michael M; DeMichele, Angela A; Chodosh, Lewis A LA

Publication Date: 2020-08-03

Variant appearance in text: CDKN2A: D84N

PubMed Link: 32657779

Variant Present in the following documents:

• Main text

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: CDKN2A: D84N

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: CDKN2A: D84N

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: CDKN2A: D84N

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: rs11552822

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Profiling of Advanced Melanoma: Candidate Mutations for Predicting Sensitivity and Resistance to Targeted Therapy.

Targeted Oncology

Olbryt, Magdalena M; Pigłowski, Wojciech W; Rajczykowski, Marcin M; Pfeifer, Aleksandra A; Student, Sebastian S; Fiszer-Kierzkowska, Anna A

Publication Date: 2020-02

Variant appearance in text: CDKN2A: 250G>A; Asp84Asn

PubMed Link: 31980996

Variant Present in the following documents:

• 11523_2020_Article_695.pdf

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: CDKN2A: 250G>A; D84N

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: CDKN2A: D84N

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Nature Communications

Su, Dan D; Zhang, Dadong D; Jin, Jiaoyue J; Ying, Lisha L; Han, Miao M; Chen, Kaiyan K; Li, Bin B; Wu, Junzhou J; Xie, Zhenghua Z; Zhang, Fanrong F; Lin, Yihui Y; Cheng, Guoping G; Li, Jing-Yu JY; Huang, Minran M; Wang, Jinchao J; Wang, Kailai K; Zhang, Jianjun J; Li, Fugen F; Xiong, Lei L; Futreal, Andrew A; Mao, Weimin W

Publication Date: 2019-11-07

Variant appearance in text: CDKN2A: 250G>A; D84N

PubMed Link: 31700061

Variant Present in the following documents:

• 41467_2019_12846_MOESM6_ESM.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: CDKN2A: Asp84Asn

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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Molecular profiling of cancer patients enables personalized combination therapy: the I-PREDICT study.

Nature Medicine

Sicklick, Jason K JK; Kato, Shumei S; Okamura, Ryosuke R; Schwaederle, Maria M; Hahn, Michael E ME; Williams, Casey B CB; De, Pradip P; Krie, Amy A; Piccioni, David E DE; Miller, Vincent A VA; Ross, Jeffrey S JS; Benson, Adam A; Webster, Jennifer J; Stephens, Philip J PJ; Lee, J Jack JJ; Fanta, Paul T PT; Lippman, Scott M SM; Leyland-Jones, Brian B; Kurzrock, Razelle R

Publication Date: 2019-05

Variant appearance in text: p16INK4a: D84N

PubMed Link: 31011206

Variant Present in the following documents:

• NIHMS1522524-supplement-Sup_Tables_1_-_2.xlsx, sheet 2

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: CDKN2A: 250G>A; Asp84Asn

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Analysis of error profiles in deep next-generation sequencing data.

Genome Biology

Ma, Xiaotu X; Shao, Ying Y; Tian, Liqing L; Flasch, Diane A DA; Mulder, Heather L HL; Edmonson, Michael N MN; Liu, Yu Y; Chen, Xiang X; Newman, Scott S; Nakitandwe, Joy J; Li, Yongjin Y; Li, Benshang B; Shen, Shuhong S; Wang, Zhaoming Z; Shurtleff, Sheila S; Robison, Leslie L LL; Levy, Shawn S; Easton, John J; Zhang, Jinghui J

Publication Date: 2019-03-14

Variant appearance in text: CDKN2A: D84N

PubMed Link: 30867008

Variant Present in the following documents:

• 13059_2019_1659_MOESM1_ESM.xlsx, sheet 7

View BVdb publication page

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Decoding Somatic Driver Gene Mutations and Affected Signaling Pathways in Human Medulloblastoma Subgroups.

Journal Of Cancer

Robbins, Charles J CJ; Bou-Dargham, Mayassa J MJ; Sanchez, Kevin K; Rosen, Matthew C MC; Sang, Qing-Xiang Amy QA

Publication Date: 2018

Variant appearance in text: CDKN2A: D84N

PubMed Link: 30588243

Variant Present in the following documents:

• jcav09p4596s2.xlsx, sheet 1

View BVdb publication page

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Analysis of solid tumor mutation profiles in liquid biopsy.

Cancer Medicine

Balaji, Sai A SA; Shanmugam, Ashwini A; Chougule, Anuradha A; Sridharan, Srikant S; Prabhash, Kumar K; Arya, Anuradha A; Chaubey, Aditya A; Hariharan, Arun A; Kolekar, Pandurang P; Sen, Manimala M; Ravichandran, Aarthi A; Katragadda, Shanmukh S; Sankaran, Satish S; Bhargava, Saurabh S; Kulkarni, Prashanth P; Rao, Suchitra S; Sunkavalli, Chinnababu C; Banavali, Shripad S; Joshi, Amit A; Noronha, Vanita V; Dutt, Amit A; Bahadur, Urvashi U; Hariharan, Ramesh R; Veeramachaneni, Vamsi V; Gupta, Vaijayanti V

Publication Date: 2018-11

Variant appearance in text: CDKN2A: Asp84Asn

PubMed Link: 30264478

Variant Present in the following documents:

• CAM4-7-5439-s003.xlsx, sheet 3
• CAM4-7-5439-s004.xlsx, sheet 3

View BVdb publication page

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An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports

Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U

Publication Date: 2018-09-10

Variant appearance in text: CDKN2A: D84N

PubMed Link: 30202034

Variant Present in the following documents:

• 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30

View BVdb publication page

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The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications

Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM

Publication Date: 2018-09-10

Variant appearance in text: CDKN2A: D84N

PubMed Link: 30202019

Variant Present in the following documents:

• 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Structural insights into the functional diversity of the CDK-cyclin family.

Open Biology

Wood, Daniel J DJ; Endicott, Jane A JA

Publication Date: 2018-09

Variant appearance in text: INK4: D84N

PubMed Link: 30185601

Variant Present in the following documents:

• Main text
• rsob-8-180112.pdf

View BVdb publication page

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Analysis of the genomic landscape of multiple myeloma highlights novel prognostic markers and disease subgroups.

Leukemia

Bolli, Niccolo N; Biancon, Giulia G; Moarii, Matahi M; Gimondi, Silvia S; Li, Yilong Y; de Philippis, Chiara C; Maura, Francesco F; Sathiaseelan, Vijitha V; Tai, Yu-Tzu YT; Mudie, Laura L; O'Meara, Sarah S; Raine, Keiran K; Teague, Jon W JW; Butler, Adam P AP; Carniti, Cristiana C; Gerstung, Moritz M; Bagratuni, Tina T; Kastritis, Efstathios E; Dimopoulos, Meletios M; Corradini, Paolo P; Anderson, Kenneth C KC; Moreau, Philippe P; Minvielle, Stephane S; Campbell, Peter J PJ; Papaemmanuil, Elli E; Avet-Loiseau, Herve H; Munshi, Nikhil C NC

Publication Date: 2018-12

Variant appearance in text: CDKN2A: D84N

PubMed Link: 29789651

Variant Present in the following documents:

• 41375_2018_37_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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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: CDKN2A: 250G>A; D84N

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.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: CDKN2A: D84N

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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Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinoma.

Nature Communications

Cammareri, Patrizia P; Rose, Aidan M AM; Vincent, David F DF; Wang, Jun J; Nagano, Ai A; Libertini, Silvana S; Ridgway, Rachel A RA; Athineos, Dimitris D; Coates, Philip J PJ; McHugh, Angela A; Pourreyron, Celine C; Dayal, Jasbani H S JH; Larsson, Jonas J; Weidlich, Simone S; Spender, Lindsay C LC; Sapkota, Gopal P GP; Purdie, Karin J KJ; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM; Clevers, Hans H; Barker, Nick N; Karlsson, Stefan S; Pritchard, Catrin C; Marais, Richard R; Chelala, Claude C; South, Andrew P AP; Sansom, Owen J OJ; Inman, Gareth J GJ

Publication Date: 2016-08-25

Variant appearance in text: CDKN2A: D84N

PubMed Link: 27558455

Variant Present in the following documents:

• ncomms12493-s8.xlsx, sheet 1
• ncomms12493-s14.xlsx, sheet 1
• ncomms12493-s9.xlsx, sheet 1

View BVdb publication page

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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: CDKN2A: 250G>A; D84N

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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: CDKN2A: 250G>A; D84N

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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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: CDKN2A: D84N; rs11552822

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CDKN2A: D84N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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