Publications:

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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: Q192H

PubMed Link: 36351408

Variant Present in the following documents:

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

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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: 576G>C

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Characterization of disease-propagating stem cells responsible for myeloproliferative neoplasm-blast phase.

Jci Insight

Wang, Xiaoli X; Rampal, Raajit K RK; Hu, Cing Siang CS; Tripodi, Joseph J; Farnoud, Noushin N; Petersen, Bruce B; Rossi, Michael R MR; Patel, Minal M; McGovern, Erin E; Najfeld, Vesna V; Iancu-Rubin, Camelia C; Lu, Min M; Davis, Andrew A; Kremyanskaya, Marina M; Weinberg, Rona Singer RS; Mascarenhas, John J; Hoffman, Ronald R

Publication Date: 2022-04-22

Variant appearance in text: TP53: Q192H

PubMed Link: 35259128

Variant Present in the following documents:

• jciinsight-7-156534-s067.xlsx, sheet 1

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Genetic profiles of Barrett's esophagus and esophageal adenocarcinoma in Japanese patients.

Scientific Reports

Tokunaga, Mamoru M; Okimoto, Kenichiro K; Akizue, Naoki N; Ishikawa, Kentaro K; Hirotsu, Yosuke Y; Amemiya, Kenji K; Ota, Masayuki M; Matsusaka, Keisuke K; Nishimura, Motoi M; Matsushita, Kazuyuki K; Ishikawa, Tsubasa T; Nagashima, Ariki A; Shiratori, Wataru W; Kaneko, Tatsuya T; Oura, Hirotaka H; Kanayama, Kengo K; Ohta, Yuki Y; Taida, Takashi T; Saito, Keiko K; Matsumura, Tomoaki T; Chiba, Tetsuhiro T; Mochizuki, Hitoshi H; Arai, Makoto M; Kato, Jun J; Ikeda, Jun-Ichiro JI; Omata, Masao M; Kato, Naoya N

Publication Date: 2021-09-03

Variant appearance in text: TP53: Q192H

PubMed Link: 34480065

Variant Present in the following documents:

• Main text
• 41598_2021_Article_97249.pdf

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Topographic correlates of driver mutations and endogenous gene expression in pediatric diffuse midline gliomas and hemispheric high-grade gliomas.

Scientific Reports

Kazarian, Eve E; Marks, Asher A; Cui, Jin J; Darbinyan, Armine A; Tong, Elizabeth E; Mueller, Sabine S; Cha, Soonmee S; Aboian, Mariam S MS

Publication Date: 2021-07-13

Variant appearance in text: TP53: Q192H

PubMed Link: 34257334

Variant Present in the following documents:

• Main text
• 41598_2021_Article_92943.pdf

View BVdb publication page

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Defining relative mutational difficulty to understand cancer formation.

Cell Discovery

Shan, Lin L; Yu, Jiao J; He, Zhengjin Z; Chen, Shishuang S; Liu, Mingxian M; Ding, Hongyu H; Xu, Liang L; Zhao, Jie J; Yang, Ailing A; Jiang, Hai H

Publication Date: 2020

Variant appearance in text: p53: Q192H

PubMed Link: 32704382

Variant Present in the following documents:

• 41421_2020_177_MOESM7_ESM.xlsx, sheet 1

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: TP53: Q192H

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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Nucleotide variants and protein expression of TP53 in a Sri Lankan cohort of patients with head and neck cancer.

Molecular Medicine Reports

Manoharan, Vahinipriya V; Karunanayake, Eric Hamilton EH; Tennekoon, Kamani Hemamala KH; De Silva, Sumadee S; De Silva, Kanishka K; Angunawela, Preethika P; Lunec, John J

Publication Date: 2019-04

Variant appearance in text: TP53: 576G>C

PubMed Link: 30816478

Variant Present in the following documents:

• Main text
• mmr-19-04-2781.pdf

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TP53 Mutational Status and Prediction of Benefit from Adjuvant 5-Fluorouracil in Stage III Colon Cancer Patients.

Ebiomedicine

Kandioler, Daniela D; Mittlböck, Martina M; Kappel, Sonja S; Puhalla, Harald H; Herbst, Friedrich F; Langner, Cord C; Wolf, Brigitte B; Tschmelitsch, Jörg J; Schippinger, Walter W; Steger, Günther G; Hofbauer, Friedrich F; Samonigg, Hellmut H; Gnant, Michael M; Teleky, Bela B; Kührer, Irene I; ,

Publication Date: 2015-08

Variant appearance in text: TP53: Gln192His

PubMed Link: 26425688

Variant Present in the following documents:

• Main text
• main.pdf

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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: TP53: Q192H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2014-10-28

Variant appearance in text: TP53: Q192H

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation inactivation of Nijmegen breakage syndrome gene (NBS1) in hepatocellular carcinoma and intrahepatic cholangiocarcinoma.

Plos One

Wang, Yan Y; Hong, Yu Y; Li, Man M; Long, Jiang J; Zhao, Yan-Ping YP; Zhang, Jun-Xia JX; Li, Qian Q; You, Hong H; Tong, Wei-Min WM; Jia, Ji-Dong JD; Huang, Jian J

Publication Date: 2013

Variant appearance in text: TP53: Q192H

PubMed Link: 24349281

Variant Present in the following documents:

• Main text

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: TP53: Q192H

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.

Plos One

Chen, Zhenbin Z; Feng, Jinong J; Buzin, Carolyn H CH; Sommer, Steve S SS

Publication Date: 2008

Variant appearance in text: TP53: Q192H

PubMed Link: 19005564

Variant Present in the following documents:

• pone.0003714.s007.xls, sheet 1

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