Publications:

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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: 844del; Arg282fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Multilevel proteomic analyses reveal molecular diversity between diffuse-type and intestinal-type gastric cancer.

Nature Communications

Shi, Wenhao W; Wang, Yushen Y; Xu, Chen C; Li, Yan Y; Ge, Sai S; Bai, Bin B; Zhang, Kecheng K; Wang, Yunzhi Y; Zheng, Nairen N; Wang, Juan J; Wang, Shiqi S; Ji, Gang G; Li, Jipeng J; Nie, Yongzhan Y; Liang, Wenquan W; Wu, Xiaosong X; Cui, Jianxin J; Wang, Yi Y; Chen, Lin L; Zhao, Qingchuan Q; Shen, Lin L; He, Fuchu F; Qin, Jun J; Ding, Chen C

Publication Date: 2023-02-14

Variant appearance in text: TP53: 844delC; R282fs*63

PubMed Link: 36788224

Variant Present in the following documents:

• 41467_2023_35797_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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The High Expression of p53 Is Predictive of Poor Survival Rather TP53 Mutation in Esophageal Squamous Cell Carcinoma.

Journal Of Oncology

Jin, Yan Y; Zhao, Xueke X; Song, Xin X; Wang, Ran R; Fan, Zongmin Z; Wang, Panpan P; Yang, Miaomiao M; Zhou, Fuyou F; Bao, Qide Q; Wang, Lidong L

Publication Date: 2023

Variant appearance in text: p53: 844delC

PubMed Link: 36660245

Variant Present in the following documents:

• JO2023-3801526.pdf

View BVdb publication page

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

The Lancet. Haematology

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Publication Date: 2022-11-24

Variant appearance in text: TP53: 844del

PubMed Link: 36436542

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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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: R282Gfs*63

PubMed Link: 35871175

Variant Present in the following documents:

• 41467_2022_31780_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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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: 844del; R282Gfs*63

PubMed Link: 35578198

Variant Present in the following documents:

• 12885_2022_9602_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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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: 844del; Arg282Glyfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study.

Familial Cancer

Postema, Floor A M FAM; Hopman, Saskia M J SMJ; de Borgie, Corianne A J M CAJM; Aalfs, Cora M CM; Anninga, Jakob K JK; Berger, Lieke P V LPV; Bleeker, Fonnet E FE; Dommering, Charlotte J CJ; van Eijkelenburg, Natasha K A NKA; Hammond, Peter P; van den Heuvel-Eibrink, Marry M MM; Hol, Janna A JA; Kors, Wijnanda A WA; Letteboer, Tom G W TGW; Loeffen, Jan L C M JLCM; Meijer, Lisethe L; Olderode-Berends, Maran J W MJW; Wagner, Anja A; Hennekam, Raoul C RC; Merks, Johannes H M JHM

Publication Date: 2021-10

Variant appearance in text: TP53: 843del

PubMed Link: 33686467

Variant Present in the following documents:

• 10689_2021_237_MOESM1_ESM.pdf

View BVdb publication page

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Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study.

Familial Cancer

Postema, Floor A M FAM; Hopman, Saskia M J SMJ; de Borgie, Corianne A J M CAJM; Aalfs, Cora M CM; Anninga, Jakob K JK; Berger, Lieke P V LPV; Bleeker, Fonnet E FE; Dommering, Charlotte J CJ; van Eijkelenburg, Natasha K A NKA; Hammond, Peter P; van den Heuvel-Eibrink, Marry M MM; Hol, Janna A JA; Kors, Wijnanda A WA; Letteboer, Tom G W TGW; Loeffen, Jan L C M JLCM; Meijer, Lisethe L; Olderode-Berends, Maran J W MJW; Wagner, Anja A; Hennekam, Raoul C RC; Merks, Johannes H M JHM

Publication Date: 2021-10

Variant appearance in text: TP53: 843del

PubMed Link: 33686467

Variant Present in the following documents:

• 10689_2021_237_MOESM1_ESM.pdf

View BVdb publication page

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

Cell Reports

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

Publication Date: 2020-06-23

Variant appearance in text: TP53: R282Gfs*63

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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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: 844delC; Arg282Glyfs

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1

View BVdb publication page

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A proteomic landscape of diffuse-type gastric cancer.

Nature Communications

Ge, Sai S; Xia, Xia X; Ding, Chen C; Zhen, Bei B; Zhou, Quan Q; Feng, Jinwen J; Yuan, Jiajia J; Chen, Rui R; Li, Yumei Y; Ge, Zhongqi Z; Ji, Jiafu J; Zhang, Lianhai L; Wang, Jiayuan J; Li, Zhongwu Z; Lai, Yumei Y; Hu, Ying Y; Li, Yanyan Y; Li, Yilin Y; Gao, Jing J; Chen, Lin L; Xu, Jianming J; Zhang, Chunchao C; Jung, Sung Yun SY; Choi, Jong Min JM; Jain, Antrix A; Liu, Mingwei M; Song, Lei L; Liu, Wanlin W; Guo, Gaigai G; Gong, Tongqing T; Huang, Yin Y; Qiu, Yang Y; Huang, Wenwen W; Shi, Tieliu T; Zhu, Weimin W; Wang, Yi Y; He, Fuchu F; Shen, Lin L; Qin, Jun J

Publication Date: 2018-03-08

Variant appearance in text: TP53: 844delC; R282fs*63

PubMed Link: 29520031

Variant Present in the following documents:

• 41467_2018_3121_MOESM5_ESM.xlsx, sheet 8

View BVdb publication page

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Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma.

Bmc Cancer

Lu, Hongyang H; Yang, Shifeng S; Zhu, Huineng H; Tong, Xiaoling X; Xie, Fajun F; Qin, Jing J; Han, Na N; Wu, Xue X; Fan, Yun Y; Shao, Yang W YW; Mao, Weimin W

Publication Date: 2018-03-05

Variant appearance in text: N/A

PubMed Link: 29506494

Variant Present in the following documents:

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

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

Publication Date: 2016-07-28

Variant appearance in text: TP53: 844delC; R282fs*63

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Genetic changes of non-small cell lung cancer under neoadjuvant therapy.

Oncotarget

Warth, Arne A; Endris, Volker V; Stenzinger, Albrecht A; Penzel, Roland R; Harms, Alexander A; Duell, Thomas T; Abdollahi, Amir A; Lindner, Michael M; Schirmacher, Peter P; Muley, Thomas T; Dienemann, Hendrik H; Fink, Ludger L; Morresi-Hauf, Alicia A; Pfarr, Nicole N; Weichert, Wilko W

Publication Date: 2016-05-17

Variant appearance in text: TP53: 844delC; Arg282fs*63

PubMed Link: 27105513

Variant Present in the following documents:

• oncotarget-07-29761-s002.xlsx, sheet 1

View BVdb publication page

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