TP53 c.993+1G>T

Variant ID: 17-7576852-C-A

NM_000546.5(TP53):c.993+1G>T

This variant was identified in 53 publications

View GRCh38 version.




Publications:


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

Translational Lung Cancer Research
Stensgaard, Simone S; Thomsen, Astrid A; Helstrup, Sofie S; Meldgaard, Peter P; Sorensen, Boe S BS
Publication Date: 2023-05-31

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 37323168
Variant Present in the following documents:
  • tlcr-12-05-971-supplementary.pdf
View BVdb publication page



Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.

Nature Communications
Cotto, Kelsy C KC; Feng, Yang-Yang YY; Ramu, Avinash A; Richters, Megan M; Freshour, Sharon L SL; Skidmore, Zachary L ZL; Xia, Huiming H; McMichael, Joshua F JF; Kunisaki, Jason J; Campbell, Katie M KM; Chen, Timothy Hung-Po TH; Rozycki, Emily B EB; Adkins, Douglas D; Devarakonda, Siddhartha S; Sankararaman, Sumithra S; Lin, Yiing Y; Chapman, William C WC; Maher, Christopher A CA; Arora, Vivek V; Dunn, Gavin P GP; Uppaluri, Ravindra R; Govindan, Ramaswamy R; Griffith, Obi L OL; Griffith, Malachi M
Publication Date: 2023-03-22

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 36949070
Variant Present in the following documents:
  • 41467_2023_37266_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: TP53: 993+1G>T; rs11575997
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 3
View BVdb publication page



Discovering Synergistic Compounds with BYL-719 in PI3K Overactivated Basal-like PDXs.

Cancers
Boyd, David C DC; Zboril, Emily K EK; Olex, Amy L AL; Leftwich, Tess J TJ; Hairr, Nicole S NS; Byers, Holly A HA; Valentine, Aaron D AD; Altman, Julia E JE; Alzubi, Mohammad A MA; Grible, Jacqueline M JM; Turner, Scott A SA; Ferreira-Gonzalez, Andrea A; Dozmorov, Mikhail G MG; Harrell, J Chuck JC
Publication Date: 2023-03-03

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 36900375
Variant Present in the following documents:
  • cancers-15-01582.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: rs11575997
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_8.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Pan-cancer molecular analysis of EGFR large fragment deletion in the Asian population.

Cancer Medicine
Pu, Jun J; Guo, Huannan H; Yu, Ruoying R; Ou, Qiuxiang Q; Bao, Hua H; Wu, Xue X; Tang, Sanyuan S; Chang, Qingyong Q
Publication Date: 2023-01-09

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 36622089
Variant Present in the following documents:
  • CAM4-12-8083-s003.xlsx, sheet 1
View BVdb publication page



Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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

Cancer Communications (London, England)
Wu, Huanwen H; Yu, Zicheng Z; Liu, Yueping Y; Guo, Lei L; Teng, Lianghong L; Guo, Lingchuan L; Liang, Li L; Wang, Jing J; Gao, Jie J; Li, Ruiyu R; Yang, Ling L; Nie, Xiu X; Su, Dan D; Liang, Zhiyong Z
Publication Date: 2022-10-20

Variant appearance in text: TP53: 993+1G>T; rs11575997
PubMed Link: 36264285
Variant Present in the following documents:
  • CAC2-42-1367-s002.xlsx, sheet 3
View BVdb publication page



Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology
Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W
Publication Date: 2022

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 36238300
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
View BVdb publication page



EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine
Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W
Publication Date: 2022-09-19

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 36123678
Variant Present in the following documents:
  • 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The circulating tumor DNA (ctDNA) alteration level predicts therapeutic response in metastatic breast cancer: Novel prognostic indexes based on ctDNA.

Breast (Edinburgh, Scotland)
Liu, Binliang B; Hu, Zheyu Z; Ran, Jialu J; Xie, Ning N; Tian, Can C; Tang, Yu Y; Ouyang, Quchang Q
Publication Date: 2022-10

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 35926241
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: TP53: 782+647G>T; rs11575997
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age.

Nature Communications
Burkhardt, Birgit B; Michgehl, Ulf U; Rohde, Jonas J; Erdmann, Tabea T; Berning, Philipp P; Reutter, Katrin K; Rohde, Marius M; Borkhardt, Arndt A; Burmeister, Thomas T; Dave, Sandeep S; Tzankov, Alexandar A; Dugas, Martin M; Sandmann, Sarah S; Fend, Falko F; Finger, Jasmin J; Mueller, Stephanie S; Gökbuget, Nicola N; Haferlach, Torsten T; Kern, Wolfgang W; Hartmann, Wolfgang W; Klapper, Wolfram W; Oschlies, Ilske I; Richter, Julia J; Kontny, Udo U; Lutz, Mathias M; Maecker-Kolhoff, Britta B; Ott, German G; Rosenwald, Andreas A; Siebert, Reiner R; von Stackelberg, Arend A; Strahm, Brigitte B; Woessmann, Wilhelm W; Zimmermann, Martin M; Zapukhlyak, Myroslav M; Grau, Michael M; Lenz, Georg G
Publication Date: 2022-07-06

Variant appearance in text: TP53: 782+647G>T
PubMed Link: 35794096
Variant Present in the following documents:
  • 41467_2022_31355_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Homologous recombination deficiency in diverse cancer types and its correlation with platinum chemotherapy efficiency in ovarian cancer.

Bmc Cancer
Wen, Hao H; Feng, Zheng Z; Ma, Yutong Y; Liu, Rui R; Ou, Qiuxiang Q; Guo, Qinhao Q; Shen, Yi Y; Wu, Xue X; Shao, Yang Y; Bao, Hua H; Wu, Xiaohua X
Publication Date: 2022-05-16

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 35578198
Variant Present in the following documents:
  • 12885_2022_9602_MOESM9_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: 993+1G>T
PubMed Link: 35509869
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



The Genomic Landscape of Early-Stage Ovarian High-Grade Serous Carcinoma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Cheng, Zhao Z; Mirza, Hasan H; Ennis, Darren P DP; Smith, Philip P; Morrill Gavarró, Lena L; Sokota, Chishimba C; Giannone, Gaia G; Goranova, Theodora T; Bradley, Thomas T; Piskorz, Anna A; Lockley, Michelle M; , ; Kaur, Baljeet B; Singh, Naveena N; Tookman, Laura A LA; Krell, Jonathan J; McDermott, Jacqueline J; Macintyre, Geoffrey G; Markowetz, Florian F; Brenton, James D JD; McNeish, Iain A IA
Publication Date: 2022-07-01

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 35398881
Variant Present in the following documents:
  • ccr-21-1643_supplementary_table_2_supp2.xlsx, sheet 3
View BVdb publication page



Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine
Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y
Publication Date: 2022-07

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 35393784
Variant Present in the following documents:
  • CAM4-11-2767-s001.xlsx, sheet 1
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology
Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X
Publication Date: 2021

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 35087742
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Molecular Evaluation of Endometrial Dedifferentiated Carcinoma, Endometrioid Carcinoma, Carcinosarcoma, and Serous Carcinoma Using a Custom-Made Small Cancer Panel.

Pathology Oncology Research : Por
Kobayashi, Yusuke Y; Kitazono, Ikumi I; Akahane, Toshiaki T; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Nohara, Sachio S; Sakamoto, Ippei I; Yokoyama, Seiya S; Tabata, Kazuhiro K; Kobayashi, Hiroaki H; Tanimoto, Akihide A
Publication Date: 2021

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 35002543
Variant Present in the following documents:
  • Main text
  • pore-27-1610013.pdf
  • Table4.xlsx, sheet 1
View BVdb publication page



A DNA Damage Response Gene Panel for Different Histologic Types of Epithelial Ovarian Carcinomas and Their Outcomes.

Biomedicines
Chiang, Ying-Cheng YC; Lin, Po-Han PH; Lu, Tzu-Pin TP; Kuo, Kuan-Ting KT; Tai, Yi-Jou YJ; Hsu, Heng-Cheng HC; Wu, Chia-Ying CY; Lee, Chia-Yi CY; Shen, Hung H; Chen, Chi-An CA; Cheng, Wen-Fang WF
Publication Date: 2021-10-03

Variant appearance in text: TP53: 993+1G>T; rs11575997
PubMed Link: 34680501
Variant Present in the following documents:
  • Main text
  • biomedicines-09-01384.pdf
View BVdb publication page



Integrative analysis reveals clinically relevant molecular fingerprints in pancreatic cancer.

Molecular Therapy. Nucleic Acids
Song, Libin L; Qi, Simin S; Hu, Wei W; Fang, Zhixiao Z; Yu, Dehua D; Liu, Teng T; Wu, Jingni J; Wu, Yangjun Y; Wu, Aiwei A; Feng, Lanyun L; Xie, Jing J; Zhang, Bo B; He, Wenguang W; Ning, Zhouyu Z; Liu, Luming L; Qin, Jiang-Jiang JJ; Li, Shengli S
Publication Date: 2021-12-03

Variant appearance in text: rs11575997
PubMed Link: 34513290
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Exome sequencing identifies novel somatic variants in African American esophageal squamous cell carcinoma.

Scientific Reports
Erkizan, Hayriye Verda HV; Sukhadia, Shrey S; Natarajan, Thanemozhi G TG; Marino, Gustavo G; Notario, Vicente V; Lichy, Jack H JH; Wadleigh, Robert G RG
Publication Date: 2021-07-20

Variant appearance in text: rs11575997
PubMed Link: 34285259
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_94064.pdf
View BVdb publication page



Identification and monitoring of mutations in circulating cell-free tumor DNA in hepatocellular carcinoma treated with lenvatinib.

Journal Of Experimental & Clinical Cancer Research : Cr
Fujii, Yasutoshi Y; Ono, Atsushi A; Hayes, C Nelson CN; Aikata, Hiroshi H; Yamauchi, Masami M; Uchikawa, Shinsuke S; Kodama, Kenichiro K; Teraoka, Yuji Y; Fujino, Hatsue H; Nakahara, Takashi T; Murakami, Eisuke E; Miki, Daiki D; Okamoto, Wataru W; Kawaoka, Tomokazu T; Tsuge, Masataka M; Imamura, Michio M; Chayama, Kazuaki K
Publication Date: 2021-06-26

Variant appearance in text: TP53: 993+1G>T; rs11575997
PubMed Link: 34174931
Variant Present in the following documents:
  • 13046_2021_2016_MOESM2_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: 993+1G>T
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Tumor evolutionary trajectories during the acquisition of invasiveness in early stage lung adenocarcinoma.

Nature Communications
Wang, Siwei S; Du, Mulong M; Zhang, Jingyuan J; Xu, Weizhang W; Yuan, Qianyu Q; Li, Ming M; Wang, Jie J; Zhu, Hongyu H; Wang, Yuzhuo Y; Wang, Cheng C; Gong, Yuhua Y; Wang, Xiaonan X; Hu, Zhibin Z; Christiani, David C DC; Xu, Lin L; Shen, Hongbing H; Yin, Rong R
Publication Date: 2020-11-27

Variant appearance in text: TP53: 993+1G>T; rs11575997
PubMed Link: 33247113
Variant Present in the following documents:
  • 41467_2020_19855_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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: TP53: 993+1G>T
PubMed Link: 33145402
Variant Present in the following documents:
  • 41523_2020_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.

Bmc Cancer
Steeghs, Elisabeth M P EMP; Kroeze, Leonie I LI; Tops, Bastiaan B J BBJ; van Kempen, Leon C LC; Ter Elst, Arja A; Kastner-van Raaij, Annemiek W M AWM; Hendriks-Cornelissen, Sandra J B SJB; Hermsen, Mandy J W MJW; Jansen, Erik A M EAM; Nederlof, Petra M PM; Schuuring, Ed E; Ligtenberg, Marjolijn J L MJL; Eijkelenboom, Astrid A
Publication Date: 2020-04-07

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 32264863
Variant Present in the following documents:
  • 12885_2020_6785_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Nature Communications
Mitchell, Khadijah A KA; Nichols, Noah N; Tang, Wei W; Walling, Jennifer J; Stevenson, Holly H; Pineda, Marbin M; Stefanescu, Roxana R; Edelman, Daniel C DC; Girvin, Andrew T AT; Zingone, Adriana A; Sinha, Sanju S; Bowman, Elise E; Rossi, Emily L EL; Arauz, Rony F RF; Jack Zhu, Yuelin Y; Lack, Justin J; Weingartner, Elizabeth E; Waterfall, Joshua J JJ; Pine, Sharon R SR; Simmons, John J; Meltzer, Paul P; Ryan, Bríd M BM
Publication Date: 2019-12-16

Variant appearance in text: rs11575997
PubMed Link: 31844068
Variant Present in the following documents:
  • 41467_2019_13732_MOESM8_ESM.xlsx, sheet 1
  • 41467_2019_13732_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Integrated multi-omics analysis of genomics, epigenomics, and transcriptomics in ovarian carcinoma.

Aging
Zheng, Mingjun M; Hu, Yuexin Y; Gou, Rui R; Wang, Jing J; Nie, Xin X; Li, Xiao X; Liu, Qing Q; Liu, Juanjuan J; Lin, Bei B
Publication Date: 2019-06-29

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 31257224
Variant Present in the following documents:
  • aging-11-102047-s002.xlsx, sheet 13
  • aging-11-102047-s002.xlsx, sheet 11
  • aging-11-102047-s002.xlsx, sheet 12
View BVdb publication page



Circulating tumor DNA analyses predict progressive disease and indicate trastuzumab-resistant mechanism in advanced gastric cancer.

Ebiomedicine
Wang, Yan Y; Zhao, Chuanhua C; Chang, Lianpeng L; Jia, Ru R; Liu, Rongrui R; Zhang, Yun Y; Gao, Xuan X; Li, Jin J; Chen, Rongrong R; Xia, Xuefeng X; Bulbul, Ajaz A; Husain, Hatim H; Guan, Yanfang Y; Yi, Xin X; Xu, Jianming J
Publication Date: 2019-05

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 31031019
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
  • mmc4.xlsx, sheet 1
View BVdb publication page



Comprehensive genomic and immunological characterization of Chinese non-small cell lung cancer patients.

Nature Communications
Zhang, Xu-Chao XC; Wang, Jun J; Shao, Guo-Guang GG; Wang, Qun Q; Qu, Xiaotao X; Wang, Bo B; Moy, Christopher C; Fan, Yue Y; Albertyn, Zayed Z; Huang, Xiayu X; Zhang, Jingyu J; Qiu, Yang Y; Platero, Suso S; Lorenzi, Matthew V MV; Zudaire, Enrique E; Yang, Jennifer J; Cheng, Ying Y; Xu, Lin L; Wu, Yi-Long YL
Publication Date: 2019-04-16

Variant appearance in text: rs11575997
PubMed Link: 30992440
Variant Present in the following documents:
  • 41467_2019_9762_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



Multi-region sequencing unveils novel actionable targets and spatial heterogeneity in esophageal squamous cell carcinoma.

Nature Communications
Yan, Ting T; Cui, Heyang H; Zhou, Yong Y; Yang, Bin B; Kong, Pengzhou P; Zhang, Yingchun Y; Liu, Yiqian Y; Wang, Bin B; Cheng, Yikun Y; Li, Jiayi J; Guo, Shixing S; Xu, Enwei E; Liu, Huijuan H; Cheng, Caixia C; Zhang, Ling L; Chen, Ling L; Zhuang, Xiaofei X; Qian, Yu Y; Yang, Jian J; Ma, Yanchun Y; Li, Hongyi H; Wang, Fang F; Liu, Jing J; Liu, Xuefeng X; Su, Dan D; Wang, Yan Y; Sun, Ruifang R; Guo, Shiping S; Li, Yaoping Y; Cheng, Xiaolong X; Liu, Zhihua Z; Zhan, Qimin Q; Cui, Yongping Y
Publication Date: 2019-04-11

Variant appearance in text: rs11575997
PubMed Link: 30975989
Variant Present in the following documents:
  • 41467_2019_9255_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science
Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES
Publication Date: 2019-05

Variant appearance in text: rs11575997
PubMed Link: 30811755
Variant Present in the following documents:
  • CAS-110-1760-s002.xlsx, sheet 2
View BVdb publication page



Copy number signatures and mutational processes in ovarian carcinoma.

Nature Genetics
Macintyre, Geoff G; Goranova, Teodora E TE; De Silva, Dilrini D; Ennis, Darren D; Piskorz, Anna M AM; Eldridge, Matthew M; Sie, Daoud D; Lewsley, Liz-Anne LA; Hanif, Aishah A; Wilson, Cheryl C; Dowson, Suzanne S; Glasspool, Rosalind M RM; Lockley, Michelle M; Brockbank, Elly E; Montes, Ana A; Walther, Axel A; Sundar, Sudha S; Edmondson, Richard R; Hall, Geoff D GD; Clamp, Andrew A; Gourley, Charlie C; Hall, Marcia M; Fotopoulou, Christina C; Gabra, Hani H; Paul, James J; Supernat, Anna A; Millan, David D; Hoyle, Aoisha A; Bryson, Gareth G; Nourse, Craig C; Mincarelli, Laura L; Sanchez, Luis Navarro LN; Ylstra, Bauke B; Jimenez-Linan, Mercedes M; Moore, Luiza L; Hofmann, Oliver O; Markowetz, Florian F; McNeish, Iain A IA; Brenton, James D JD
Publication Date: 2018-09

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 30104763
Variant Present in the following documents:
  • NIHMS78219-supplement-3.xlsx, sheet 1
View BVdb publication page



The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget
Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J
Publication Date: 2018-06-08

Variant appearance in text: rs11575997
PubMed Link: 29937994
Variant Present in the following documents:
  • oncotarget-09-27412-s004.xlsx, sheet 1
View BVdb publication page



Pattern of p53 protein expression is predictive for survival in chemoradiotherapy-naive esophageal adenocarcinoma.

Oncotarget
Ten Kate, Fiebo J C FJC; Suzuki, Lucia L; Dorssers, Lambert C J LCJ; Dinjens, Winand N M WNM; Jones, David T W DTW; Nieboer, Daan D; Doukas, Michael M; Van Lanschot, J Jan B JJB; Wijnhoven, Bas P L BPL; Looijenga, Leendert H J LHJ; Biermann, Katharina K
Publication Date: 2017-11-28

Variant appearance in text: TP53: 993+1G>T; rs11575997
PubMed Link: 29262626
Variant Present in the following documents:
  • oncotarget-08-104123-s002.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: 993+1G>T
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Sporadic Early-Onset Diffuse Gastric Cancers Have High Frequency of Somatic CDH1 Alterations, but Low Frequency of Somatic RHOA Mutations Compared With Late-Onset Cancers.

Gastroenterology
Cho, Soo Young SY; Park, Jun Won JW; Liu, Yang Y; Park, Young Soo YS; Kim, Ju Hee JH; Yang, Hanna H; Um, Hyejin H; Ko, Woo Ri WR; Lee, Byung Il BI; Kwon, Sun Young SY; Ryu, Seung Wan SW; Kwon, Chae Hwa CH; Park, Do Youn DY; Lee, Jae-Hyuk JH; Lee, Sang Il SI; Song, Kyu Sang KS; Hur, Hoon H; Han, Sang-Uk SU; Chang, Heekyung H; Kim, Su-Jin SJ; Kim, Byung-Sik BS; Yook, Jeong-Hwan JH; Yoo, Moon-Won MW; Kim, Beom-Su BS; Lee, In-Seob IS; Kook, Myeong-Cherl MC; Thiessen, Nina N; He, An A; Stewart, Chip C; Dunford, Andrew A; Kim, Jaegil J; Shih, Juliann J; Saksena, Gordon G; Cherniack, Andrew D AD; Schumacher, Steven S; Weiner, Amaro-Taylor AT; Rosenberg, Mara M; Getz, Gad G; Yang, Eun Gyeong EG; Ryu, Min-Hee MH; Bass, Adam J AJ; Kim, Hark Kyun HK
Publication Date: 2017-08

Variant appearance in text: rs11575997
PubMed Link: 28522256
Variant Present in the following documents:
  • NIHMS1058936-supplement-Table_S3.xlsx, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: rs11575997
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
  • 13073_2016_333_MOESM5_ESM.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: 993+1G>T
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page



Targeted next generation sequencing of endoscopic ultrasound acquired cytology from ampullary and pancreatic adenocarcinoma has the potential to aid patient stratification for optimal therapy selection.

Oncotarget
Gleeson, Ferga C FC; Kerr, Sarah E SE; Kipp, Benjamin R BR; Voss, Jesse S JS; Minot, Douglas M DM; Tu, Zheng Jin ZJ; Henry, Michael R MR; Graham, Rondell P RP; Vasmatzis, George G; Cheville, John C JC; Lazaridis, Konstantinos N KN; Levy, Michael J MJ
Publication Date: 2016-08-23

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 27203738
Variant Present in the following documents:
  • oncotarget-07-54526-s001.pdf
View BVdb publication page



Genomic analyses reveal FAM84B and the NOTCH pathway are associated with the progression of esophageal squamous cell carcinoma.

Gigascience
Cheng, Caixia C; Cui, Heyang H; Zhang, Ling L; Jia, Zhiwu Z; Song, Bin B; Wang, Fang F; Li, Yaoping Y; Liu, Jing J; Kong, Pengzhou P; Shi, Ruyi R; Bi, Yanghui Y; Yang, Bin B; Wang, Juan J; Zhao, Zhenxiang Z; Zhang, Yanyan Y; Hu, Xiaoling X; Yang, Jie J; He, Chanting C; Zhao, Zhiping Z; Wang, Jinfen J; Xi, Yanfeng Y; Xu, Enwei E; Li, Guodong G; Guo, Shiping S; Chen, Yunqing Y; Yang, Xiaofeng X; Chen, Xing X; Liang, Jianfang J; Guo, Jiansheng J; Cheng, Xiaolong X; Wang, Chuangui C; Zhan, Qimin Q; Cui, Yongping Y
Publication Date: 2016

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 26759717
Variant Present in the following documents:
  • 13742_2015_107_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Genomic analyses reveal mutational signatures and frequently altered genes in esophageal squamous cell carcinoma.

American Journal Of Human Genetics
Zhang, Ling L; Zhou, Yong Y; Cheng, Caixia C; Cui, Heyang H; Cheng, Le L; Kong, Pengzhou P; Wang, Jiaqian J; Li, Yin Y; Chen, Wenliang W; Song, Bin B; Wang, Fang F; Jia, Zhiwu Z; Li, Lin L; Li, Yaoping Y; Yang, Bin B; Liu, Jing J; Shi, Ruyi R; Bi, Yanghui Y; Zhang, Yanyan Y; Wang, Juan J; Zhao, Zhenxiang Z; Hu, Xiaoling X; Yang, Jie J; Li, Hongyi H; Gao, Zhibo Z; Chen, Gang G; Huang, Xuanlin X; Yang, Xukui X; Wan, Shengqing S; Chen, Chao C; Li, Bin B; Tan, Yongkai Y; Chen, Longyun L; He, Minghui M; Xie, Sha S; Li, Xiangchun X; Zhuang, Xuehan X; Wang, Mengyao M; Xia, Zhi Z; Luo, Longhai L; Ma, Jie J; Dong, Bing B; Zhao, Jiuzhou J; Song, Yongmei Y; Ou, Yunwei Y; Li, Enming E; Xu, Liyan L; Wang, Jinfen J; Xi, Yanfeng Y; Li, Guodong G; Xu, Enwei E; Liang, Jianfang J; Yang, Xiaofeng X; Guo, Jiansheng J; Chen, Xing X; Zhang, Yanbo Y; Li, Qingshan Q; Liu, Lixin L; Li, Yingrui Y; Zhang, Xiuqing X; Yang, Huanming H; Lin, Dongxin D; Cheng, Xiaolong X; Guo, Yongjun Y; Wang, Jun J; Zhan, Qimin Q; Cui, Yongping Y
Publication Date: 2015-04-02

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 25839328
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports
Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK
Publication Date: 2014-11-14

Variant appearance in text: rs11575997
PubMed Link: 25394353
Variant Present in the following documents:
  • srep07063-s2.xls, sheet 4
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: rs11575997
PubMed Link: 25086664
Variant Present in the following documents:
  • NIHMS612904-supplement-2.xlsx, sheet 8
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: rs11575997
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-4.xlsx, sheet 1
View BVdb publication page



Ras regulates kinesin 13 family members to control cell migration pathways in transformed human bronchial epithelial cells.

Oncogene
Zaganjor, E E; Osborne, J K JK; Weil, L M LM; Diaz-Martinez, L A LA; Gonzales, J X JX; Singel, S M SM; Larsen, J E JE; Girard, L L; Minna, J D JD; Cobb, M H MH
Publication Date: 2014-11-20

Variant appearance in text: TP53: 993+1G>T
PubMed Link: 24240690
Variant Present in the following documents:
  • NIHMS550264-supplement-2.xlsx, sheet 1
View BVdb publication page



Association between variations in cell cycle genes and idiopathic pulmonary fibrosis.

Plos One
Korthagen, Nicoline M NM; van Moorsel, Coline H M CH; Barlo, Nicole P NP; Kazemier, Karin M KM; Ruven, Henk J T HJ; Grutters, Jan C JC
Publication Date: 2012

Variant appearance in text: rs11575997
PubMed Link: 22291954
Variant Present in the following documents:
  • Main text
  • pone.0030442.pdf
View BVdb publication page