TP53 c.112C>T ;(p.Q38*)

Variant ID: 17-7579575-G-A

NM_000546.5(TP53):c.112C>T;(p.Q38*)

This variant was identified in 58 publications

View GRCh38 version.




Publications:


Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
Publication Date: 2023-01-17

Variant appearance in text: TP53: Q38*
PubMed Link: 36652909
Variant Present in the following documents:
  • mmc3.xlsx, sheet 27
  • mmc3.xlsx, sheet 3
View BVdb publication page



Immunotherapy for bilateral multiple ground glass opacities: An exploratory study for synchronous multiple primary lung cancer.

Frontiers In Immunology
Xu, Lin L; Shi, Meiqi M; Wang, Siwei S; Li, Ming M; Yin, Wenda W; Zhang, Jingyuan J; Zhu, Jun J; Jiang, Feng F; Xia, Wenjia W; Qiu, Ninglei N; Zhang, Zhi Z; Huang, Jianfeng J; Ma, Zhifei Z; Meng, Fanchen F; Zhu, Hongyu H; Dong, Guozhang G; Wang, Jie J; Yin, Rong R
Publication Date: 2022

Variant appearance in text: TP53: 112C>T; Gln38Ter
PubMed Link: 36389707
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



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: TP53: 112C>T; Gln38Ter
PubMed Link: 36335173
Variant Present in the following documents:
  • 41698_2022_327_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood
Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD
Publication Date: 2022-10-06

Variant appearance in text: TP53: Q38*
PubMed Link: 36201743
Variant Present in the following documents:
  • BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6
View BVdb publication page



Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Cancer Medicine
Vormittag-Nocito, Erica E; Kumar, Ravindra R; Narayan, Kunwar Digvijay KD; Chen, Zhengjia Z; David, Odile O; Behm, Frederick F; Mohapatra, Gayatry G
Publication Date: 2022-09-20

Variant appearance in text: TP53: 112C>T
PubMed Link: 36125633
Variant Present in the following documents:
  • CAM4-12-4042-s001.xlsx, sheet 1
View BVdb publication page



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: Q38X
PubMed Link: 36071046
Variant Present in the following documents:
  • 41467_2022_32962_MOESM15_ESM.xlsx, sheet 22
View BVdb publication page



Whole genome analysis reveals the genomic complexity in metastatic cutaneous squamous cell carcinoma.

Frontiers In Oncology
Thind, Amarinder Singh AS; Ashford, Bruce B; Strbenac, Dario D; Mitchell, Jenny J; Lee, Jenny J; Mueller, Simon A SA; Minaei, Elahe E; Perry, Jay R JR; Ch'ng, Sydney S; Iyer, N Gopalakrishna NG; Clark, Jonathan R JR; Gupta, Ruta R; Ranson, Marie M
Publication Date: 2022

Variant appearance in text: TP53: 112C>T; Gln38Ter
PubMed Link: 35982973
Variant Present in the following documents:
  • Table_4.xls, sheet 3
View BVdb publication page



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: Q38*
PubMed Link: 35871175
Variant Present in the following documents:
  • 41467_2022_31780_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Systematic exploration of the underlying mechanism of gemcitabine resistance in pancreatic adenocarcinoma.

Molecular Oncology
Liu, Kaidong K; Geng, Yiding Y; Wang, Linzhu L; Xu, Huanhuan H; Zou, Min M; Li, Yawei Y; Zhao, Zhangxiang Z; Chen, Tingting T; Xu, Fengyan F; Sun, Liang L; Wu, Shuliang S; Gu, Yunyan Y
Publication Date: 2022-08

Variant appearance in text: TP53: Q38*
PubMed Link: 35810469
Variant Present in the following documents:
  • Main text
  • MOL2-16-3034.pdf
View BVdb publication page



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: Q38*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



The Impact of Comprehensive Genomic Profiling (CGP) on the Decision-Making Process in the Treatment of ALK-Rearranged Advanced Non-Small Cell Lung Cancer (aNSCLC) After Failure of 2nd/3rd-Generation ALK Tyrosine Kinase Inhibitors (TKIs).

Frontiers In Oncology
Raphael, Ari A; Onn, Amir A; Holtzman, Liran L; Dudnik, Julia J; Urban, Damien D; Kian, Waleed W; Cohen, Aharon Y AY; Moskovitz, Mor M; Zer, Alona A; Bar, Jair J; Rabinovich, Natalie Maimon NM; Grynberg, Shirly S; Oedegaard, Cecilie C; Agbarya, Abed A; Peled, Nir N; Shochat, Tzippy T; Dudnik, Elizabeth E
Publication Date: 2022

Variant appearance in text: TP53: Q38*
PubMed Link: 35646707
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: TP53: 112C>T; Gln38Ter
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Proteogenomic characterization of 2002 human cancers reveals pan-cancer molecular subtypes and associated pathways.

Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Chandrashekar, Darshan S DS; Varambally, Sooryanarayana S; Creighton, Chad J CJ
Publication Date: 2022-05-13

Variant appearance in text: p53: Q38*
PubMed Link: 35562349
Variant Present in the following documents:
  • 41467_2022_30342_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Paclitaxel and cisplatin with or without cetuximab in metastatic esophageal squamous cell carcinoma: a randomized, multicenter phase II trial.

Innovation (Cambridge (Mass.))
Lu, Zhihao Z; Zhang, Yanqiao Y; Fan, Qingxia Q; Pan, Yueyin Y; Jiang, Da D; Lu, Ping P; Zhang, Jingdong J; Yuan, Xianglin X; Feng, Jifeng J; Yang, Shujun S; Yue, Wenbin W; Zhao, Lin L; Xu, Yunhua Y; Luo, Jinhua J; Shen, Lin L
Publication Date: 2022-05-10

Variant appearance in text: TP53: 112C>T; Q38*
PubMed Link: 35509869
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



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: TP53: Q38*
PubMed Link: 35165384
Variant Present in the following documents:
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
View BVdb publication page



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: TP53: Q38*
PubMed Link: 34922300
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Molecular profiling of advanced malignancies guides first-line N-of-1 treatments in the I-PREDICT treatment-naïve study.

Genome Medicine
Sicklick, Jason K JK; Kato, Shumei S; Okamura, Ryosuke R; Patel, Hitendra H; Nikanjam, Mina M; Fanta, Paul T PT; Hahn, Michael E ME; De, Pradip P; Williams, Casey C; Guido, Jessica J; Solomon, Benjamin M BM; McKay, Rana R RR; Krie, Amy A; Boles, Sarah G SG; Ross, Jeffrey S JS; Lee, J Jack JJ; Leyland-Jones, Brian B; Lippman, Scott M SM; Kurzrock, Razelle R
Publication Date: 2021-10-04

Variant appearance in text: TP53: Q38*
PubMed Link: 34607609
Variant Present in the following documents:
  • 13073_2021_969_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Genomic evidence suggests that cutaneous neuroendocrine carcinomas can arise from squamous dysplastic precursors.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Harms, Paul W PW; Verhaegen, Monique E ME; Hu, Kevin K; Hrycaj, Steven M SM; Chan, May P MP; Liu, Chia-Jen CJ; Grachtchouk, Marina M; Patel, Rajiv M RM; Udager, Aaron M AM; Dlugosz, Andrzej A AA
Publication Date: 2022-04

Variant appearance in text: TP53: Q38X
PubMed Link: 34593967
Variant Present in the following documents:
  • NIHMS1739265-supplement-Supplemental_Tables.xlsx, sheet 5
  • NIHMS1739265-supplement-Supplemental_Tables.xlsx, sheet 4
View BVdb publication page



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: Q38*
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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: 112C>T; Q38*
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Plasma Circulating Tumor DNA Sequencing Predicts Minimal Residual Disease in Resectable Esophageal Squamous Cell Carcinoma.

Frontiers In Oncology
Liu, Tao T; Yao, Qianqian Q; Jin, Hai H
Publication Date: 2021

Variant appearance in text: TP53: 112C>T; Q38*
PubMed Link: 34094900
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 3
View BVdb publication page



Sensitivity, specificity, and accuracy of a liquid biopsy approach utilizing molecular amplification pools.

Scientific Reports
Garcia, Jessica J; Kamps-Hughes, Nick N; Geiguer, Florence F; Couraud, Sébastien S; Sarver, Brice B; Payen, Léa L; Ionescu-Zanetti, Cristian C
Publication Date: 2021-05-24

Variant appearance in text: TP53: 112C>T; Q38*
PubMed Link: 34031447
Variant Present in the following documents:
  • 41598_2021_89592_MOESM1_ESM.xlsx, sheet 6
  • 41598_2021_89592_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Establishment and genomic characterization of a sporadic malignant peripheral nerve sheath tumor cell line.

Scientific Reports
Longo, Jody Fromm JF; Brosius, Stephanie N SN; Znoyko, Iya I; Alers, Victoria A VA; Jenkins, Dorea P DP; Wilson, Robert C RC; Carroll, Andrew J AJ; Wolff, Daynna J DJ; Roth, Kevin A KA; Carroll, Steven L SL
Publication Date: 2021-03-11

Variant appearance in text: TP53: 112C>T
PubMed Link: 33707600
Variant Present in the following documents:
  • 41598_2021_85055_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



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

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: TP53: 112C>T; Q38*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: TP53: Q38*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s004.xlsx, sheet 1
  • CAM4-10-53-s003.xlsx, sheet 1
View BVdb publication page



Multiomics profiling of primary lung cancers and distant metastases reveals immunosuppression as a common characteristic of tumor cells with metastatic plasticity.

Genome Biology
Lee, Won-Chul WC; Reuben, Alexandre A; Hu, Xin X; McGranahan, Nicholas N; Chen, Runzhe R; Jalali, Ali A; Negrao, Marcelo V MV; Hubert, Shawna M SM; Tang, Chad C; Wu, Chia-Chin CC; Lucas, Anthony San AS; Roh, Whijae W; Suda, Kenichi K; Kim, Jihye J; Tan, Aik-Choon AC; Peng, David H DH; Lu, Wei W; Tang, Ximing X; Chow, Chi-Wan CW; Fujimoto, Junya J; Behrens, Carmen C; Kalhor, Neda N; Fukumura, Kazutaka K; Coyle, Marcus M; Thornton, Rebecca R; Gumbs, Curtis C; Li, Jun J; Wu, Chang-Jiun CJ; Little, Latasha L; Roarty, Emily E; Song, Xingzhi X; Lee, J Jack JJ; Sulman, Erik P EP; Rao, Ganesh G; Swisher, Stephen S; Diao, Lixia L; Wang, Jing J; Heymach, John V JV; Huse, Jason T JT; Scheet, Paul P; Wistuba, Ignacio I II; Gibbons, Don L DL; Futreal, P Andrew PA; Zhang, Jianhua J; Gomez, Daniel D; Zhang, Jianjun J
Publication Date: 2020-11-04

Variant appearance in text: TP53: Q38X
PubMed Link: 33148332
Variant Present in the following documents:
  • 13059_2020_2175_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Comparison of three commercial decision support platforms for matching of next-generation sequencing results with therapies in patients with cancer.

Esmo Open
Perakis, Samantha O SO; Weber, Sabrina S; Zhou, Qing Q; Graf, Ricarda R; Hojas, Sabine S; Riedl, Jakob M JM; Gerger, Armin A; Dandachi, Nadia N; Balic, Marija M; Hoefler, Gerald G; Schuuring, Ed E; Groen, Harry J M HJM; Geigl, Jochen B JB; Heitzer, Ellen E; Speicher, Michael R MR
Publication Date: 2020-09

Variant appearance in text: TP53: 112C>T; Q38*
PubMed Link: 32967919
Variant Present in the following documents:
  • esmoopen-2020-000872supp001.pdf
View BVdb publication page



A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Breast Cancer Research : Bcr
Kang, Taekyu T; Yau, Christina C; Wong, Christopher K CK; Sanborn, John Z JZ; Newton, Yulia Y; Vaske, Charlie C; Benz, Stephen C SC; Krings, Gregor G; Camarda, Roman R; Henry, Jill E JE; Stuart, Josh J; Powell, Mark M; Benz, Christopher C CC
Publication Date: 2020-07-31

Variant appearance in text: TP53: 112C>T; Q38*
PubMed Link: 32736587
Variant Present in the following documents:
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 3
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 2
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 1
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



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

Nature Communications
Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG
Publication Date: 2020-07-30

Variant appearance in text: TP53: Q38*
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
View BVdb publication page



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

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: TP53: Q38*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.

Clinical And Translational Medicine
He, Cai-Yun CY; Qiu, Miao-Zhen MZ; Yang, Xin-Hua XH; Zhou, Da-Lei DL; Ma, Jiang-Jun JJ; Long, Ya-Kang YK; Ye, Zu-Lu ZL; Xu, Bo-Heng BH; Zhao, Qi Q; Jin, Ying Y; Lu, Shi-Xun SX; Wang, Zhi-Qiang ZQ; Guan, Wen-Long WL; Zhao, Bai-Wei BW; Zhou, Zhi-Wei ZW; Shao, Jian-Yong JY; Xu, Rui-Hua RH
Publication Date: 2020-01

Variant appearance in text: TP53: 112C>T; Gln38*
PubMed Link: 32508039
Variant Present in the following documents:
  • CTM2-10-353-s003.xlsx, sheet 3
View BVdb publication page



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: TP53: Q38*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



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

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: TP53: 112C>T; Q38*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports
McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,
Publication Date: 2019-11-19

Variant appearance in text: TP53: 112C>T; Q38*
PubMed Link: 31745186
Variant Present in the following documents:
  • 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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

Frontiers In Molecular Biosciences
Dehghani, Mehdi M; Rosenblatt, Kevin P KP; Li, Lei L; Rakhade, Mrudula M; Amato, Robert J RJ
Publication Date: 2019

Variant appearance in text: TP53: Gln38Ter
PubMed Link: 31681791
Variant Present in the following documents:
  • Data_Sheet_5.pdf
View BVdb publication page



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

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: TP53: Gln38*
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations.

Scientific Reports
Grant, Adam D AD; Vail, Paris P; Padi, Megha M; Witkiewicz, Agnieszka K AK; Knudsen, Erik S ES
Publication Date: 2019-09-04

Variant appearance in text: TP53: Q38*
PubMed Link: 31484939
Variant Present in the following documents:
  • 41598_2019_48967_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Genomic signatures reveal DNA damage response deficiency in colorectal cancer brain metastases.

Nature Communications
Sun, Jing J; Wang, Cheng C; Zhang, Yi Y; Xu, Lingyan L; Fang, Weijia W; Zhu, Yuping Y; Zheng, Yi Y; Chen, Xiaofeng X; Xie, Xiju X; Hu, Xinhua X; Hu, Weidong W; Zheng, Jingyu J; Li, Ping P; Yu, Jian J; Mei, Zhu Z; Cai, Xiaomin X; Wang, Biao B; Hu, Zhibin Z; Shu, Yongqian Y; Shen, Hongbing H; Gu, Yanhong Y
Publication Date: 2019-07-18

Variant appearance in text: TP53: Q38*
PubMed Link: 31320627
Variant Present in the following documents:
  • 41467_2019_10987_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Establishment and genomic characterization of gingivobuccal carcinoma cell lines with smokeless tobacco associated genetic alterations and oncogenic PIK3CA mutation.

Scientific Reports
Pansare, Kshama K; Gardi, Nilesh N; Kamat, Sayee S; Dange, Prerana P; Previn, Rahul R; Gera, Poonam P; Kowtal, Pradnya P; Amin, Kishore K; Sarin, Rajiv R
Publication Date: 2019-06-04

Variant appearance in text: TP53: Q38X
PubMed Link: 31164688
Variant Present in the following documents:
  • 41598_2019_44143_MOESM2_ESM.xls, sheet 1
  • 41598_2019_44143_MOESM3_ESM.xls, sheet 1
View BVdb publication page



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

Cold Spring Harbor Molecular Case Studies
Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C
Publication Date: 2019-08

Variant appearance in text: TP53: 112C>T; Q38*
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



Intratumor heterogeneity comparison among different subtypes of non-small-cell lung cancer through multi-region tissue and matched ctDNA sequencing.

Molecular Cancer
Zhang, Yaxiong Y; Chang, Lianpeng L; Yang, Yunpeng Y; Fang, Wenfeng W; Guan, Yanfang Y; Wu, Aiwei A; Hong, Shaodong S; Zhou, Huaqiang H; Chen, Gang G; Chen, Xi X; Zhao, Shen S; Zheng, Qiufan Q; Pan, Hui H; Zhang, Lanjun L; Long, Hao H; Yang, Haoxian H; Wang, Xin X; Wen, Zhesheng Z; Wang, Junye J; Yang, Hong H; Xia, Xuefeng X; Zhao, Yuanyuan Y; Hou, Xue X; Ma, Yuxiang Y; Zhou, Ting T; Zhang, Zhonghan Z; Zhan, Jianhua J; Huang, Yan Y; Zhao, Hongyun H; Zhou, Ningning N; Yi, Xin X; Zhang, Li L
Publication Date: 2019-01-09

Variant appearance in text: TP53: 112C>T; Q38*
PubMed Link: 30626401
Variant Present in the following documents:
  • 12943_2019_939_MOESM10_ESM.xlsx, sheet 2
View BVdb publication page



Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One
Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A
Publication Date: 2017

Variant appearance in text: TP53: Q38X
PubMed Link: 29267365
Variant Present in the following documents:
  • pone.0189881.s007.xlsx, sheet 1
View BVdb publication page



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

Scientific Reports
Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; Brünner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L
Publication Date: 2017-11-10

Variant appearance in text: TP53: 112C>T; Q38*
PubMed Link: 29127303
Variant Present in the following documents:
  • 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: TP53: 112C>T; Q38*
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



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

Genome Medicine
Chalmers, Zachary R ZR; Connelly, Caitlin F CF; Fabrizio, David D; Gay, Laurie L; Ali, Siraj M SM; Ennis, Riley R; Schrock, Alexa A; Campbell, Brittany B; Shlien, Adam A; Chmielecki, Juliann J; Huang, Franklin F; He, Yuting Y; Sun, James J; Tabori, Uri U; Kennedy, Mark M; Lieber, Daniel S DS; Roels, Steven S; White, Jared J; Otto, Geoffrey A GA; Ross, Jeffrey S JS; Garraway, Levi L; Miller, Vincent A VA; Stephens, Phillip J PJ; Frampton, Garrett M GM
Publication Date: 2017-04-19

Variant appearance in text: TP53: Q38*
PubMed Link: 28420421
Variant Present in the following documents:
  • 13073_2017_424_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



TP53 exon-6 truncating mutations produce separation of function isoforms with pro-tumorigenic functions.

Elife
Shirole, Nitin H NH; Pal, Debjani D; Kastenhuber, Edward R ER; Senturk, Serif S; Boroda, Joseph J; Pisterzi, Paola P; Miller, Madison M; Munoz, Gustavo G; Anderluh, Marko M; Ladanyi, Marc M; Lowe, Scott W SW; Sordella, Raffaella R
Publication Date: 2016-10-19

Variant appearance in text: p53: Q38*
PubMed Link: 27759562
Variant Present in the following documents:
  • elife-17929-supp2.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: TP53: 112C>T; Q38*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page



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

Scientific Reports
Zhao, Min M; Rotgans, Bronwyn B; Wang, Tianfang T; Cummins, S F SF
Publication Date: 2016-03-15

Variant appearance in text: TP53: Q38*
PubMed Link: 26975833
Variant Present in the following documents:
  • srep23167-s9.xls, sheet 1
View BVdb publication page



Mutational landscape of MCPyV-positive and MCPyV-negative Merkel cell carcinomas with implications for immunotherapy.

Oncotarget
Goh, Gerald G; Walradt, Trent T; Markarov, Vladimir V; Blom, Astrid A; Riaz, Nadeem N; Doumani, Ryan R; Stafstrom, Krista K; Moshiri, Ata A; Yelistratova, Lola L; Levinsohn, Jonathan J; Chan, Timothy A TA; Nghiem, Paul P; Lifton, Richard P RP; Choi, Jaehyuk J
Publication Date: 2016-01-19

Variant appearance in text: TP53: Q38*
PubMed Link: 26655088
Variant Present in the following documents:
  • oncotarget-07-3403-s001.pdf
View BVdb publication page



Amino-terminal p53 mutations lead to expression of apoptosis proficient p47 and prognosticate better survival, but predispose to tumorigenesis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Phang, Beng Hooi BH; Othman, Rashidah R; Bougeard, Gaelle G; Chia, Ren Hui RH; Frebourg, Thierry T; Tang, Choong Leong CL; Cheah, Peh Yean PY; Sabapathy, Kanaga K
Publication Date: 2015-11-17

Variant appearance in text: p53: Q38*
PubMed Link: 26578795
Variant Present in the following documents:
  • Main text
View BVdb publication page



NOTCH, ASCL1, p53 and RB alterations define an alternative pathway driving neuroendocrine and small cell lung carcinomas.

International Journal Of Cancer
Meder, Lydia L; König, Katharina K; Ozretić, Luka L; Schultheis, Anne M AM; Ueckeroth, Frank F; Ade, Carsten P CP; Albus, Kerstin K; Boehm, Diana D; Rommerscheidt-Fuss, Ursula U; Florin, Alexandra A; Buhl, Theresa T; Hartmann, Wolfgang W; Wolf, Jürgen J; Merkelbach-Bruse, Sabine S; Eilers, Martin M; Perner, Sven S; Heukamp, Lukas C LC; Buettner, Reinhard R
Publication Date: 2016-02-15

Variant appearance in text: TP53: 112C>T; Q38*
PubMed Link: 26340530
Variant Present in the following documents:
  • IJC-138-927-s005.xlsx, sheet 1
  • IJC-138-927-s005.xlsx, sheet 2
View BVdb publication page



Kinome sequencing reveals RET G691S polymorphism in human neuroendocrine lung cancer cell lines.

Genes & Genomics
Sosonkina, Nadiya N; Hong, Seung-Keun SK; Starenki, Dmytro D; Park, Jong-In JI
Publication Date: 2014-12

Variant appearance in text: TP53: 112C>T; Q38X
PubMed Link: 25530832
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis.

Nature Communications
Nones, Katia K; Waddell, Nicola N; Wayte, Nicci N; Patch, Ann-Marie AM; Bailey, Peter P; Newell, Felicity F; Holmes, Oliver O; Fink, J Lynn JL; Quinn, Michael C J MCJ; Tang, Yue Hang YH; Lampe, Guy G; Quek, Kelly K; Loffler, Kelly A KA; Manning, Suzanne S; Idrisoglu, Senel S; Miller, David D; Xu, Qinying Q; Waddell, Nick N; Wilson, Peter J PJ; Bruxner, Timothy J C TJC; Christ, Angelika N AN; Harliwong, Ivon I; Nourse, Craig C; Nourbakhsh, Ehsan E; Anderson, Matthew M; Kazakoff, Stephen S; Leonard, Conrad C; Wood, Scott S; Simpson, Peter T PT; Reid, Lynne E LE; Krause, Lutz L; Hussey, Damian J DJ; Watson, David I DI; Lord, Reginald V RV; Nancarrow, Derek D; Phillips, Wayne A WA; Gotley, David D; Smithers, B Mark BM; Whiteman, David C DC; Hayward, Nicholas K NK; Campbell, Peter J PJ; Pearson, John V JV; Grimmond, Sean M SM; Barbour, Andrew P AP
Publication Date: 2014-10-29

Variant appearance in text: TP53: Q38*
PubMed Link: 25351503
Variant Present in the following documents:
  • NIHMS64791-supplement-Supplementary_data_3.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: TP53: Q38*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.

Nature Communications
Schulz, Eduard E; Klampfl, Petra P; Holzapfel, Stefanie S; Janecke, Andreas R AR; Ulz, Peter P; Renner, Wilfried W; Kashofer, Karl K; Nojima, Satoshi S; Leitner, Anita A; Zebisch, Armin A; Wölfler, Albert A; Hofer, Sybille S; Gerger, Armin A; Lax, Sigurd S; Beham-Schmid, Christine C; Steinke, Verena V; Heitzer, Ellen E; Geigl, Jochen B JB; Windpassinger, Christian C; Hoefler, Gerald G; Speicher, Michael R MR; Boland, C Richard CR; Kumanogoh, Atsushi A; Sill, Heinz H
Publication Date: 2014-10-13

Variant appearance in text: TP53: 112C>T
PubMed Link: 25307848
Variant Present in the following documents:
  • ncomms6191-s1.pdf
View BVdb publication page



Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions.

Genome Biology
Brannon, A Rose AR; Vakiani, Efsevia E; Sylvester, Brooke E BE; Scott, Sasinya N SN; McDermott, Gregory G; Shah, Ronak H RH; Kania, Krishan K; Viale, Agnes A; Oschwald, Dayna M DM; Vacic, Vladimir V; Emde, Anne-Katrin AK; Cercek, Andrea A; Yaeger, Rona R; Kemeny, Nancy E NE; Saltz, Leonard B LB; Shia, Jinru J; D'Angelica, Michael I MI; Weiser, Martin R MR; Solit, David B DB; Berger, Michael F MF
Publication Date: 2014-08-28

Variant appearance in text: TP53: Q38*
PubMed Link: 25164765
Variant Present in the following documents:
  • 13059_2014_454_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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

Nature Genetics
Gross, Andrew M AM; Orosco, Ryan K RK; Shen, John P JP; Egloff, Ann Marie AM; Carter, Hannah H; Hofree, Matan M; Choueiri, Michel M; Coffey, Charles S CS; Lippman, Scott M SM; Hayes, D Neil DN; Cohen, Ezra E EE; Grandis, Jennifer R JR; Nguyen, Quyen T QT; Ideker, Trey T
Publication Date: 2014-09

Variant appearance in text: TP53: 112C>T; Q38*
PubMed Link: 25086664
Variant Present in the following documents:
  • NIHMS612904-supplement-2.xlsx, sheet 8
View BVdb publication page



Genomic and molecular characterization of esophageal squamous cell carcinoma.

Nature Genetics
Lin, De-Chen DC; Hao, Jia-Jie JJ; Nagata, Yasunobu Y; Xu, Liang L; Shang, Li L; Meng, Xuan X; Sato, Yusuke Y; Okuno, Yusuke Y; Varela, Ana Maria AM; Ding, Ling-Wen LW; Garg, Manoj M; Liu, Li-Zhen LZ; Yang, Henry H; Yin, Dong D; Shi, Zhi-Zhou ZZ; Jiang, Yan-Yi YY; Gu, Wen-Yue WY; Gong, Ting T; Zhang, Yu Y; Xu, Xin X; Kalid, Ori O; Shacham, Sharon S; Ogawa, Seishi S; Wang, Ming-Rong MR; Koeffler, H Phillip HP
Publication Date: 2014-05

Variant appearance in text: TP53: Q38X
PubMed Link: 24686850
Variant Present in the following documents:
  • NIHMS573166-supplement-9.xlsx, sheet 9
View BVdb publication page