TP53 c.723del ;(p.C242Afs*5)

Variant ID: 17-7577557-AG-A

NM_000546.5(TP53):c.723del;(p.C242Afs*5)

This variant was identified in 72 publications

View GRCh38 version.




Publications:


A living biobank of patient-derived ductal carcinoma in situ mouse-intraductal xenografts identifies risk factors for invasive progression.

Cancer Cell
Hutten, Stefan J SJ; de Bruijn, Roebi R; Lutz, Catrin C; Badoux, Madelon M; Eijkman, Timo T; Chao, Xue X; Ciwinska, Marta M; Sheinman, Michael M; Messal, Hendrik H; Herencia-Ropero, Andrea A; Kristel, Petra P; Mulder, Lennart L; van der Waal, Rens R; Sanders, Joyce J; Almekinders, Mathilde M MM; Llop-Guevara, Alba A; Davies, Helen R HR; van Haren, Matthijs J MJ; Martin, Nathaniel I NI; Behbod, Fariba F; Nik-Zainal, Serena S; Serra, Violeta V; van Rheenen, Jacco J; Lips, Esther H EH; Wessels, Lodewyk F A LFA; , ; Wesseling, Jelle J; Scheele, Colinda L G J CLGJ; Jonkers, Jos J
Publication Date: 2023-04-24

Variant appearance in text: TP53: 723delC; C242Afs*5
PubMed Link: 37116492
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Combinatorial BCL-2 family expression in Acute Myeloid Leukemia Stem Cells predicts clinical response to Azacitidine/Venetoclax.

Cancer Discovery
Waclawiczek, Alexander A; Leppa, Aino-Maija AM; Renders, Simon S; Stumpf, Karolin K; Reyneri, Cecilia C; Betz, Barbara B; Janssen, Maike M; Shahswar, Rabia R; Donato, Elisa E; Karpova, Darja D; Thiel, Vera V; Unglaub, Julia M JM; Grabowski, Susanna S; Gryzik, Stefanie S; Vierbaum, Lisa L; Schlenk, Richard F RF; Rollig, Christoph C; Hundemer, Michael M; Pabst, Caroline C; Heuser, Michael M; Raffel, Simon S; Muller-Tidow, Carsten C; Sauer, Tim T; Trumpp, Andreas A
Publication Date: 2023-03-09

Variant appearance in text: TP53: 723delC
PubMed Link: 36892565
Variant Present in the following documents:
  • cd-22-0939_supplementary_tables_1-7_suppst1.xlsx, sheet 2
View BVdb publication page



Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications
Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI
Publication Date: 2023-02-08

Variant appearance in text: TP53: 723del; C242fs
PubMed Link: 36755027
Variant Present in the following documents:
  • 41467_2023_36328_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Cancer Science
Kage, Hidenori H; Shinozaki-Ushiku, Aya A; Ishigaki, Kazunaga K; Sato, Yusuke Y; Tanabe, Masahiko M; Tanaka, Shota S; Tanikawa, Michihiro M; Watanabe, Kousuke K; Kato, Shingo S; Akagi, Kiwamu K; Uchino, Keita K; Mitani, Kinuko K; Takahashi, Shunji S; Miura, Yuji Y; Ikeda, Sadakatsu S; Kojima, Yasushi Y; Watanabe, Kiyotaka K; Mochizuki, Hitoshi H; Yamaguchi, Hironori H; Kawazoe, Yoshimasa Y; Kashiwabara, Kosuke K; Kohsaka, Shinji S; Tatsuno, Kenji K; Ushiku, Tetsuo T; Ohe, Kazuhiko K; Yatomi, Yutaka Y; Seto, Yasuyuki Y; Aburatani, Hiroyuki H; Mano, Hiroyuki H; Miyagawa, Kiyoshi K; Oda, Katsutoshi K
Publication Date: 2023-01-05

Variant appearance in text: TP53: 723del; C242Afs*5
PubMed Link: 36601953
Variant Present in the following documents:
  • CAS-114-1710-s001.xlsx, sheet 1
View BVdb publication page



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

The Lancet. Haematology
,
Publication Date: 2022-11-24

Variant appearance in text: TP53: 723del
PubMed Link: 36436542
Variant Present in the following documents:
  • mmc2.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: 722delC
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Cancer Research Communications
Ghezelayagh, Talayeh S TS; Kohrn, Brendan F BF; Fredrickson, Jeanne J; Manhardt, Enna E; Radke, Marc R MR; Katz, Ronit R; Gray, Heidi J HJ; Urban, Renata R RR; Pennington, Kathryn P KP; Liao, John B JB; Doll, Kemi M KM; Simons, Elise J EJ; Burzawa, Jennifer K JK; Goff, Barbara A BA; Speiser, Paul P; Swisher, Elizabeth M EM; Norquist, Barbara M BM; Risques, Rosa Ana RA
Publication Date: 2022-10

Variant appearance in text: TP53: 723del; C242Afs*5
PubMed Link: 36311816
Variant Present in the following documents:
  • crc-22-0314-s02.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: 723delC; C242fs
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: 723delC; C242Afs*5
PubMed Link: 36071046
Variant Present in the following documents:
  • 41467_2022_32962_MOESM15_ESM.xlsx, sheet 22
View BVdb publication page



Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Molecular Oncology
Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M
Publication Date: 2022-10

Variant appearance in text: TP53: 723del; C242Afs*5
PubMed Link: 35971249
Variant Present in the following documents:
  • MOL2-16-3689-s005.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: N/A
PubMed Link: 35926241
Variant Present in the following documents:
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: N/A
PubMed Link: 35871175
Variant Present in the following documents:
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: 723delC; C242Afs*5
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35814426
Variant Present in the following documents:
View BVdb publication page



Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Ebiomedicine
Adema, Vera V; Palomo, Laura L; Walter, Wencke W; Mallo, Mar M; Hutter, Stephan S; La Framboise, Thomas T; Arenillas, Leonor L; Meggendorfer, Manja M; Radivoyevitch, Tomas T; Xicoy, Blanca B; Pellagatti, Andrea A; Haferlach, Claudia C; Boultwood, Jacqueline J; Kern, Wolfgang W; Visconte, Valeria V; Sekeres, Mikkael M; Barnard, John J; Haferlach, Torsten T; Solé, Francesc F; Maciejewski, Jaroslaw P JP
Publication Date: 2022-06

Variant appearance in text: TP53: 723del
PubMed Link: 35617825
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



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

Aging
Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M
Publication Date: 2022-05-25

Variant appearance in text: TP53: 723delC; C242fs
PubMed Link: 35613927
Variant Present in the following documents:
  • aging-14-204101-s004.xlsx, sheet 1
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: N/A
PubMed Link: 35562349
Variant Present in the following documents:
View BVdb publication page



Efficacy of Targeted Inhibitors in Metastatic Lung Squamous Cell Carcinoma With EGFR or ALK Alterations.

Jto Clinical And Research Reports
Lewis, Whitney E WE; Hong, Lingzhi L; Mott, Frank E FE; Simon, George G; Wu, Carol C CC; Rinsurongkawong, Waree W; Lee, J Jack JJ; Lam, Vincent K VK; Heymach, John V JV; Zhang, Jianjun J; Le, Xiuning X
Publication Date: 2021-11

Variant appearance in text: N/A
PubMed Link: 34820641
Variant Present in the following documents:
View BVdb publication page



Disease Modeling on Tumor Organoids Implicates AURKA as a Therapeutic Target in Liver Metastatic Colorectal Cancer.

Cellular And Molecular Gastroenterology And Hepatology
Boos, Sophie L SL; Loevenich, Leon P LP; Vosberg, Sebastian S; Engleitner, Thomas T; Öllinger, Rupert R; Kumbrink, Jörg J; Rokavec, Matjaz M; Michl, Marlies M; Greif, Philipp A PA; Jung, Andreas A; Hermeking, Heiko H; Neumann, Jens J; Kirchner, Thomas T; Rad, Roland R; Jung, Peter P
Publication Date: 2021-10-23

Variant appearance in text: TP53: 723delC
PubMed Link: 34700030
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Disease Modeling on Tumor Organoids Implicates AURKA as a Therapeutic Target in Liver Metastatic Colorectal Cancer.

Cellular And Molecular Gastroenterology And Hepatology
Boos, Sophie L SL; Loevenich, Leon P LP; Vosberg, Sebastian S; Engleitner, Thomas T; Öllinger, Rupert R; Kumbrink, Jörg J; Rokavec, Matjaz M; Michl, Marlies M; Greif, Philipp A PA; Jung, Andreas A; Hermeking, Heiko H; Neumann, Jens J; Kirchner, Thomas T; Rad, Roland R; Jung, Peter P
Publication Date: 2022

Variant appearance in text: TP53: 723delC
PubMed Link: 34700030
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Scientific Reports
Nastase, Anca A; Mandal, Amit A; Lu, Shir Kiong SK; Anbunathan, Hima H; Morris-Rosendahl, Deborah D; Zhang, Yu Zhi YZ; Sun, Xiao-Ming XM; Gennatas, Spyridon S; Rintoul, Robert C RC; Edwards, Matthew M; Bowman, Alex A; Chernova, Tatyana T; Benepal, Tim T; Lim, Eric E; Taylor, Anthony Newman AN; Nicholson, Andrew G AG; Popat, Sanjay S; Willis, Anne E AE; MacFarlane, Marion M; Lathrop, Mark M; Bowcock, Anne M AM; Moffatt, Miriam F MF; Cookson, William O C M WOCM
Publication Date: 2021-09-27

Variant appearance in text: TP53: 723del; Cys242AlafsX5
PubMed Link: 34580349
Variant Present in the following documents:
  • 41598_2021_98414_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



Afatinib treatment response in advanced lung adenocarcinomas harboring uncommon mutations.

Thoracic Cancer
Li, Teng T; Wang, Shouzheng S; Ying, Jianming J; Wang, Yan Y; Hu, Xingsheng X; Hao, Xuezhi X; Xu, Ziyi Z; Xing, Puyuan P; Li, Junling J
Publication Date: 2021-11

Variant appearance in text: N/A
PubMed Link: 34549528
Variant Present in the following documents:
View BVdb publication page



Afatinib treatment response in advanced lung adenocarcinomas harboring uncommon mutations.

Thoracic Cancer
Li, Teng T; Wang, Shouzheng S; Ying, Jianming J; Wang, Yan Y; Hu, Xingsheng X; Hao, Xuezhi X; Xu, Ziyi Z; Xing, Puyuan P; Li, Junling J
Publication Date: 2021-11

Variant appearance in text: N/A
PubMed Link: 34549528
Variant Present in the following documents:
View BVdb publication page



Comparative analysis of nuclear and mitochondrial DNA from tissue and liquid biopsies of colorectal cancer patients.

Scientific Reports
Haupts, Anna A; Vogel, Anne A; Foersch, Sebastian S; Hartmann, Monika M; Maderer, Annett A; Wachter, Nicolas N; Huber, Tobias T; Kneist, Werner W; Roth, Wilfried W; Lang, Hauke H; Moehler, Markus M; Hartmann, Nils N
Publication Date: 2021-08-18

Variant appearance in text: TP53: 723del; Cys242Alafs*5
PubMed Link: 34408162
Variant Present in the following documents:
  • Main text
  • 41598_2021_95006_MOESM1_ESM.xlsx, sheet 1
  • 41598_2021_Article_95006.pdf
  • 41598_2021_95006_MOESM1_ESM.xlsx, sheet 2
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: 723del; C242Afs*5
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



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: TP53: 723delC
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, 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: N/A
PubMed Link: 33145402
Variant Present in the following documents:
View BVdb publication page



Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Peerj
Prieto-Potin, Iván I; Carvajal, Nerea N; Plaza-Sánchez, Jenifer J; Manso, Rebeca R; Aúz-Alexandre, Carmen Laura CL; Chamizo, Cristina C; Zazo, Sandra S; López-Sánchez, Almudena A; Rodríguez-Pinilla, Socorro María SM; Camacho, Laura L; Longarón, Raquel R; Bellosillo, Beatriz B; Somoza, Rosa R; Hernández-Losa, Javier J; Fernández-Soria, Víctor Manuel VM; Ramos-Ruiz, Ricardo R; Cristóbal, Ion I; García-Foncillas, Jesús J; Rojo, Federico F
Publication Date: 2020

Variant appearance in text: TP53: 723delC
PubMed Link: 33083132
Variant Present in the following documents:
  • peerj-08-10069-s013.xlsx, sheet 1
  • peerj-08-10069-s012.xlsx, sheet 1
  • peerj-08-10069-s010.xlsx, sheet 1
  • peerj-08-10069-s009.xlsx, sheet 1
View BVdb publication page



Targeted Next-Generation Sequencing of Plasma Cell-Free DNA in Korean Patients with Hepatocellular Carcinoma.

Annals Of Laboratory Medicine
Chae, Hyojin H; Sung, Pil Soo PS; Choi, Hayoung H; Kwon, Ahlm A; Kang, Dain D; Kim, Yonggoo Y; Kim, Myungshin M; Yoon, Seung Kew SK
Publication Date: 2021-03-01

Variant appearance in text: N/A
PubMed Link: 33063681
Variant Present in the following documents:
View BVdb publication page



Blood functional assay for rapid clinical interpretation of germline TP53 variants.

Journal Of Medical Genetics
Raad, Sabine S; Rolain, Marion M; Coutant, Sophie S; Derambure, Céline C; Lanos, Raphael R; Charbonnier, Françoise F; Bou, Jacqueline J; Bouvignies, Emilie E; Lienard, Gwendoline G; Vasseur, Stéphanie S; Farrell, Michael M; Ingster, Olivier O; Baert Desurmont, Stéphanie S; Kasper, Edwige E; Bougeard, Gaëlle G; Frébourg, Thierry T; Tournier, Isabelle I
Publication Date: 2021-12

Variant appearance in text: TP53: 723del
PubMed Link: 33051313
Variant Present in the following documents:
  • Main text
  • jmedgenet-2020-107059supp003.pdf
  • jmedgenet-2020-107059.pdf
View BVdb publication page



Blood functional assay for rapid clinical interpretation of germline TP53 variants.

Journal Of Medical Genetics
Raad, Sabine S; Rolain, Marion M; Coutant, Sophie S; Derambure, Céline C; Lanos, Raphael R; Charbonnier, Françoise F; Bou, Jacqueline J; Bouvignies, Emilie E; Lienard, Gwendoline G; Vasseur, Stéphanie S; Farrell, Michael M; Ingster, Olivier O; Baert Desurmont, Stéphanie S; Kasper, Edwige E; Bougeard, Gaëlle G; Frébourg, Thierry T; Tournier, Isabelle I
Publication Date: 2021-12

Variant appearance in text: TP53: 723del
PubMed Link: 33051313
Variant Present in the following documents:
  • Main text
  • jmedgenet-2020-107059.pdf
  • jmedgenet-2020-107059supp003.pdf
View BVdb publication page



Somatic mutation profiling in BRCA-negative breast and ovarian cancer patients by multigene panel sequencing.

American Journal Of Cancer Research
Kwong, Ava A; Cheuk, Isabella Wy IW; Shin, Vivian Yvonne VY; Ho, Cecilia Ys CY; Au, Chun-Hang CH; Ho, Dona Ny DN; Wong, Elaine Yl EY; Yu, Stephanie Wy SW; Chen, Jiawei J; Chan, Karen Kl KK; Ngan, Hextan Ys HY; Chan, Tsun-Leung TL; Ma, Edmond Sk ES
Publication Date: 2020

Variant appearance in text: TP53: 723delC
PubMed Link: 33042626
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutational analysis of hematologic neoplasms in 164 paired peripheral blood and bone marrow samples by next-generation sequencing.

Blood Advances
Lucas, Fabienne F; Michaels, Phillip D PD; Wang, Dahai D; Kim, Annette S AS
Publication Date: 2020-09-22

Variant appearance in text: N/A
PubMed Link: 32926123
Variant Present in the following documents:
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: 723delC
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Plos One
Mittempergher, Lorenza L; Piskorz, Anna M AM; Bosma, Astrid J AJ; Michaut, Magali M; Wisman, G Bea A GBA; Kluin, Roelof J C RJC; Nieuwland, Marja M; Brugman, Wim W; van der Ven, Kevin J W KJW; Marass, Francesco F; Morris, James J; Rosenfeld, Nitzan N; Jimenez-Linan, Mercedes M; de Jong, Steven S; van der Zee, Ate G J AGJ; Brenton, James D JD; Bernards, René R
Publication Date: 2020

Variant appearance in text: TP53: 722delC
PubMed Link: 32639993
Variant Present in the following documents:
  • pone.0235766.s008.xlsx, sheet 3
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: N/A
PubMed Link: 32579932
Variant Present in the following documents:
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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: N/A
PubMed Link: 32461694
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Somatic mutations and copy number variations in breast cancers with heterogeneous HER2 amplification.

Molecular Oncology
Van Bockstal, Mieke R MR; Agahozo, Marie Colombe MC; van Marion, Ronald R; Atmodimedjo, Peggy N PN; Sleddens, Hein F B M HFBM; Dinjens, Winand N M WNM; Visser, Lindy L LL; Lips, Esther H EH; Wesseling, Jelle J; van Deurzen, Carolien H M CHM
Publication Date: 2020-04

Variant appearance in text: TP53: 723delC
PubMed Link: 32058674
Variant Present in the following documents:
  • Main text
  • MOL2-14-671-s006.xlsx, sheet 1
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Detection of KRAS mutations in plasma cell-free DNA of colorectal cancer patients and comparison with cancer panel data for tissue samples of the same cancers.

Genomics & Informatics
Min, Suji S; Shin, Sun S; Chung, Yeun-Jun YJ
Publication Date: 2019-12

Variant appearance in text: N/A
PubMed Link: 31896242
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[Clinical, molecular and cytogenetic characteristics of newly diagnosed adult acute myeloid patients with TP53 gene mutation].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
Chen, W M WM; Liu, H H; Li, L D LD; Long, L Y LY; Lai, Y Y YY; Shi, H X HX; Zhao, X S XS; Jiang, H H; Jiang, Q Q; Liu, Y R YR; Qin, Y Z YZ
Publication Date: 2019-06-14

Variant appearance in text: TP53: 723delC
PubMed Link: 31340630
Variant Present in the following documents:
  • Main text
  • cjh-40-06-528.pdf
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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: 723delC
PubMed Link: 31257224
Variant Present in the following documents:
  • aging-11-102047-s002.xlsx, sheet 11
  • aging-11-102047-s002.xlsx, sheet 12
  • aging-11-102047-s002.xlsx, sheet 13
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Multilaboratory Assessment of a New Reference Material for Quality Assurance of Cell-Free Tumor DNA Measurements.

The Journal Of Molecular Diagnostics : Jmd
He, Hua-Jun HJ; Stein, Erica V EV; Konigshofer, Yves Y; Forbes, Thomas T; Tomson, Farol L FL; Garlick, Russell R; Yamada, Emiko E; Godfrey, Tony T; Abe, Toshiya T; Tamura, Koji K; Borges, Michael M; Goggins, Michael M; Elmore, Sandra S; Gulley, Margaret L ML; Larson, Jessica L JL; Ringel, Lando L; Haynes, Brian C BC; Karlovich, Chris C; Williams, P Mickey PM; Garnett, Aaron A; Ståhlberg, Anders A; Filges, Stefan S; Sorbara, Lynn L; Young, Mathew R MR; Srivastava, Sudhir S; Cole, Kenneth D KD
Publication Date: 2019-07

Variant appearance in text: TP53: 723delC
PubMed Link: 31055023
Variant Present in the following documents:
  • Main text
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Integrating next-generation sequencing to endoscopic retrograde cholangiopancreatography (ERCP)-obtained biliary specimens improves the detection and management of patients with malignant bile duct strictures.

Gut
Singhi, Aatur D AD; Nikiforova, Marina N MN; Chennat, Jennifer J; Papachristou, Georgios I GI; Khalid, Asif A; Rabinovitz, Mordechai M; Das, Rohit R; Sarkaria, Savreet S; Ayasso, M Samir MS; Wald, Abigail I AI; Monaco, Sara E SE; Nalesnik, Michael M; Ohori, N Paul NP; Geller, David D; Tsung, Allan A; Zureikat, Amer H AH; Zeh, Herbert H; Marsh, J Wallis JW; Hogg, Melissa M; Lee, Kenneth K; Bartlett, David L DL; Pingpank, James F JF; Humar, Abhinav A; Bahary, Nathan N; Dasyam, Anil K AK; Brand, Randall R; Fasanella, Kenneth E KE; McGrath, Kevin K; Slivka, Adam A
Publication Date: 2020-01

Variant appearance in text: TP53: 723delC
PubMed Link: 30971436
Variant Present in the following documents:
  • Main text
  • gutjnl-2018-317817.pdf
  • gutjnl-2018-317817supp001.pdf
View BVdb publication page



Targeted Single Primer Enrichment Sequencing with Single End Duplex-UMI.

Scientific Reports
Peng, Quan Q; Xu, Chang C; Kim, Daniel D; Lewis, Marcus M; DiCarlo, John J; Wang, Yexun Y
Publication Date: 2019-03-18

Variant appearance in text: TP53: 723delC
PubMed Link: 30886209
Variant Present in the following documents:
  • 41598_2019_41215_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Feasibility and utility of a panel testing for 114 cancer-associated genes in a clinical setting: A hospital-based study.

Cancer Science
Sunami, Kuniko K; Ichikawa, Hitoshi H; Kubo, Takashi T; Kato, Mamoru M; Fujiwara, Yutaka Y; Shimomura, Akihiko A; Koyama, Takafumi T; Kakishima, Hiroki H; Kitami, Mayuko M; Matsushita, Hiromichi H; Furukawa, Eisaku E; Narushima, Daichi D; Nagai, Momoko M; Taniguchi, Hirokazu H; Motoi, Noriko N; Sekine, Shigeki S; Maeshima, Akiko A; Mori, Taisuke T; Watanabe, Reiko R; Yoshida, Masayuki M; Yoshida, Akihiko A; Yoshida, Hiroshi H; Satomi, Kaishi K; Sukeda, Aoi A; Hashimoto, Taiki T; Shimizu, Toshio T; Iwasa, Satoru S; Yonemori, Kan K; Kato, Ken K; Morizane, Chigusa C; Ogawa, Chitose C; Tanabe, Noriko N; Sugano, Kokichi K; Hiraoka, Nobuyoshi N; Tamura, Kenji K; Yoshida, Teruhiko T; Fujiwara, Yasuhiro Y; Ochiai, Atsushi A; Yamamoto, Noboru N; Kohno, Takashi T
Publication Date: 2019-04

Variant appearance in text: N/A
PubMed Link: 30742731
Variant Present in the following documents:
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Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr
Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV
Publication Date: 2019-02-08

Variant appearance in text: N/A
PubMed Link: 30736836
Variant Present in the following documents:
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Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Hereditary Cancer In Clinical Practice
Henn, Jonas J; Spier, Isabel I; Adam, Ronja S RS; Holzapfel, Stefanie S; Uhlhaas, Siegfried S; Kayser, Katrin K; Plotz, Guido G; Peters, Sophia S; Aretz, Stefan S
Publication Date: 2019

Variant appearance in text: TP53: 723delC; Cys242Alafs*5
PubMed Link: 30680046
Variant Present in the following documents:
  • 13053_2018_102_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: N/A
PubMed Link: 30264478
Variant Present in the following documents:
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The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: N/A
PubMed Link: 30181556
Variant Present in the following documents:
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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: 723delC; C242Afs*5
PubMed Link: 30104763
Variant Present in the following documents:
  • NIHMS78219-supplement-3.xlsx, sheet 1
View BVdb publication page



Design and MinION testing of a nanopore targeted gene sequencing panel for chronic lymphocytic leukemia.

Scientific Reports
Orsini, Paola P; Minervini, Crescenzio F CF; Cumbo, Cosimo C; Anelli, Luisa L; Zagaria, Antonella A; Minervini, Angela A; Coccaro, Nicoletta N; Tota, Giuseppina G; Casieri, Paola P; Impera, Luciana L; Parciante, Elisa E; Brunetti, Claudia C; Giordano, Annamaria A; Specchia, Giorgina G; Albano, Francesco F
Publication Date: 2018-08-07

Variant appearance in text: TP53: 723delC
PubMed Link: 30087429
Variant Present in the following documents:
  • 41598_2018_30330_MOESM4_ESM.xlsx, sheet 1
  • 41598_2018_30330_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Bmc Urology
Kim, Young Saing YS; Kim, Kyung K; Kwon, Ghee-Young GY; Lee, Su Jin SJ; Park, Se Hoon SH
Publication Date: 2018-07-31

Variant appearance in text: TP53: 723delC
PubMed Link: 30064409
Variant Present in the following documents:
  • 12894_2018_380_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Feasibility study of cancer genome alterations identified by next generation sequencing: ABC study.

Japanese Journal Of Clinical Oncology
Naito, Yoichi Y; Takahashi, Hideaki H; Shitara, Kohei K; Okamoto, Wataru W; Bando, Hideaki H; Kuwata, Takeshi T; Kuboki, Yasutoshi Y; Matsumoto, Shingo S; Miki, Izumi I; Yamanaka, Takeharu T; Watanabe, Atsushi A; Kojima, Motohiro M
Publication Date: 2018-06-01

Variant appearance in text: TP53: 723delC
PubMed Link: 29659903
Variant Present in the following documents:
  • hyy052supplementaltable1ionver1.xls, sheet 1
View BVdb publication page



Analytical validation of a next generation sequencing liquid biopsy assay for high sensitivity broad molecular profiling.

Plos One
Plagnol, Vincent V; Woodhouse, Samuel S; Howarth, Karen K; Lensing, Stefanie S; Smith, Matt M; Epstein, Michael M; Madi, Mikidache M; Smalley, Sarah S; Leroy, Catherine C; Hinton, Jonathan J; de Kievit, Frank F; Musgrave-Brown, Esther E; Herd, Colin C; Baker-Neblett, Katherine K; Brennan, Will W; Dimitrov, Peter P; Campbell, Nathan N; Morris, Clive C; Rosenfeld, Nitzan N; Clark, James J; Gale, Davina D; Platt, Jamie J; Calaway, John J; Jones, Greg G; Forshew, Tim T
Publication Date: 2018

Variant appearance in text: TP53: 723delC
PubMed Link: 29543828
Variant Present in the following documents:
  • pone.0193802.s007.xlsx, sheet 1
View BVdb publication page



Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Translational Oncology
Lee, Ji Yun JY; Kim, Kyung K; Sung, Hyun Hwan HH; Jeon, Hwang Gyun HG; Jeong, Byong Chang BC; Seo, Seong Il SI; Jeon, Seong Soo SS; Lee, Hyun Moo HM; Choi, Han-Yong HY; Kwon, Ghee-Young GY; Kim, Kyoung-Mee KM; Lee, Jeeyun J; Lim, Ho Yeong HY; Park, Se Hoon SH
Publication Date: 2018-02

Variant appearance in text: TP53: 723delC
PubMed Link: 29161613
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Preoperative next-generation sequencing of pancreatic cyst fluid is highly accurate in cyst classification and detection of advanced neoplasia.

Gut
Singhi, Aatur D AD; McGrath, Kevin K; Brand, Randall E RE; Khalid, Asif A; Zeh, Herbert J HJ; Chennat, Jennifer S JS; Fasanella, Kenneth E KE; Papachristou, Georgios I GI; Slivka, Adam A; Bartlett, David L DL; Dasyam, Anil K AK; Hogg, Melissa M; Lee, Kenneth K KK; Marsh, James Wallis JW; Monaco, Sara E SE; Ohori, N Paul NP; Pingpank, James F JF; Tsung, Allan A; Zureikat, Amer H AH; Wald, Abigail I AI; Nikiforova, Marina N MN
Publication Date: 2018-12

Variant appearance in text: TP53: 722delC
PubMed Link: 28970292
Variant Present in the following documents:
  • gutjnl-2016-313586supp002.pdf
View BVdb publication page



Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell
Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ
Publication Date: 2017-08-14

Variant appearance in text: N/A
PubMed Link: 28810143
Variant Present in the following documents:
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: 722delC
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Distribution of somatic mutations of cancer-related genes according to microsatellite instability status in Korean gastric cancer.

Medicine
Park, Joonhong J; Yoo, Han Mo HM; Jang, Woori W; Shin, Soyoung S; Kim, Myungshin M; Kim, Yonggoo Y; Lee, Seung-Woo SW; Kim, Jeong Goo JG
Publication Date: 2017-06

Variant appearance in text: TP53: 723delC; Cys242fs
PubMed Link: 28640116
Variant Present in the following documents:
  • medi-96-e7224.pdf
View BVdb publication page



Diagnostic potential of tumor DNA from ovarian cyst fluid.

Elife
Wang, Yuxuan Y; Sundfeldt, Karin K; Mateoiu, Constantina C; Shih, Ie-Ming IeM; Kurman, Robert J RJ; Schaefer, Joy J; Silliman, Natalie N; Kinde, Isaac I; Springer, Simeon S; Foote, Michael M; Kristjansdottir, Björg B; James, Nathan N; Kinzler, Kenneth W KW; Papadopoulos, Nickolas N; Diaz, Luis A LA; Vogelstein, Bert B
Publication Date: 2016-07-15

Variant appearance in text: TP53: 722delC
PubMed Link: 27421040
Variant Present in the following documents:
  • elife-15175-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: 723delC
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 3
View BVdb publication page



Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.

Plos One
de Leng, Wendy W J WW; Gadellaa-van Hooijdonk, Christa G CG; Barendregt-Smouter, Françoise A S FA; Koudijs, Marco J MJ; Nijman, Ies I; Hinrichs, John W J JW; Cuppen, Edwin E; van Lieshout, Stef S; Loberg, Robert D RD; de Jonge, Maja M; Voest, Emile E EE; de Weger, Roel A RA; Steeghs, Neeltje N; Langenberg, Marlies H G MH; Sleijfer, Stefan S; Willems, Stefan M SM; Lolkema, Martijn P MP
Publication Date: 2016

Variant appearance in text: TP53: 723delC; C242fs
PubMed Link: 26919633
Variant Present in the following documents:
  • Main text
  • pone.0149405.pdf
View BVdb publication page



Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Oncotarget
Lee, Ji Yun JY; Park, Kyunghee K; Lim, Sung Hee SH; Kim, Hae Su HS; Yoo, Kwai Han KH; Jung, Ki Sun KS; Song, Haa-Na HN; Hong, Mineui M; Do, In-Gu IG; Ahn, TaeJin T; Lee, Se Kyung SK; Bae, Soo Youn SY; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Jung, Hae Hyun HH; Kim, Ji-Yeon JY; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Publication Date: 2015-12-22

Variant appearance in text: TP53: 723delC
PubMed Link: 26527317
Variant Present in the following documents:
  • oncotarget-06-43731-s002.xlsx, sheet 1
View BVdb publication page



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: 723delC
PubMed Link: 26425688
Variant Present in the following documents:
  • Main text
View BVdb publication page



Patient-derived cell models as preclinical tools for genome-directed targeted therapy.

Oncotarget
Lee, Ji Yun JY; Kim, Sun Young SY; Park, Charny C; Kim, Nayoung K D NK; Jang, Jiryeon J; Park, Kyunghee K; Yi, Jun Ho JH; Hong, Mineui M; Ahn, Taejin T; Rath, Oliver O; Schueler, Julia J; Kim, Seung Tae ST; Do, In-Gu IG; Lee, Sujin S; Park, Se Hoon SH; Ji, Yong Ick YI; Kim, Dukwhan D; Park, Joon Oh JO; Park, Young Suk YS; Kang, Won Ki WK; Kim, Kyoung-Mee KM; Park, Woong-Yang WY; Lim, Ho Yeong HY; Lee, Jeeyun J
Publication Date: 2015-09-22

Variant appearance in text: TP53: 723delC
PubMed Link: 26296973
Variant Present in the following documents:
  • oncotarget-06-25619-s003.xls, sheet 1
View BVdb publication page



Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Oncotarget
Park, Kyunghee K; Choi, Moon Ki MK; Jung, Hae Hyun HH; Do, In-Gu IG; Lee, Kwang Hee KH; Ahn, TaeJin T; Kil, Won Ho WH; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Publication Date: 2015-09-15

Variant appearance in text: TP53: 723delC
PubMed Link: 26009992
Variant Present in the following documents:
  • oncotarget-06-24499-s002.xlsx, sheet 1
View BVdb publication page