Publications:

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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: C238W; rs193920789

PubMed Link: 37116492

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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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: 714T>G; C238W; rs193920789

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1
• crc-22-0136-s01.xlsx, sheet 3

View BVdb publication page

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Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.

Iscience

Tam, Benjamin B; Qin, Zixin Z; Zhao, Bojin B; Wang, San Ming SM; Lei, Chon Lok CL

Publication Date: 2023-03-17

Variant appearance in text: TP53: 714T>G; C238W

PubMed Link: 36879825

Variant Present in the following documents:

• mmc2.xlsx, sheet 1
• mmc3.xlsx, sheet 1
• mmc4.xlsx, sheet 1

View BVdb publication page

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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: 714T>G; Cys238Trp

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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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: 714T>G; C238W

PubMed Link: 36755027

Variant Present in the following documents:

• 41467_2023_36328_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics

Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G

Publication Date: 2023-01-03

Variant appearance in text: rs193920789

PubMed Link: 36595552

Variant Present in the following documents:

• pgen.1010563.s004.xlsx, sheet 1

View BVdb publication page

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: TP53: C238W

PubMed Link: 36561320

Variant Present in the following documents:

• Table3.xlsx, sheet 1
• Table2.xlsx, sheet 7

View BVdb publication page

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Mutational analysis and protein profiling predict drug sensitivity in multiple myeloma cell lines.

Frontiers In Oncology

Giliberto, Mariaserena M; Santana, Leonardo Miranda LM; Holien, Toril T; Misund, Kristine K; Nakken, Sigve S; Vodak, Daniel D; Hovig, Eivind E; Meza-Zepeda, Leonardo A LA; Coward, Eivind E; Waage, Anders A; Taskén, Kjetil K; Skånland, Sigrid S SS

Publication Date: 2022

Variant appearance in text: TP53: C238W

PubMed Link: 36523963

Variant Present in the following documents:

• Main text
• fonc-12-1040730.pdf

View BVdb publication page

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: TP53: C238W

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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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: 714T>G; C238W

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Personalized ctDNA micro-panels can monitor and predict clinical outcomes for patients with triple-negative breast cancer.

Scientific Reports

Barnell, Erica K EK; Fisk, Bryan B; Skidmore, Zachary L ZL; Cotto, Kelsy C KC; Basu, Anamika A; Anand, Aparna A; Richters, Megan M MM; Luo, Jingqin J; Fronick, Catrina C; Anurag, Meenakshi M; Fulton, Robert R; Ellis, Matthew J MJ; Griffith, Obi L OL; Griffith, Malachi M; Ademuyiwa, Foluso O FO

Publication Date: 2022-10-22

Variant appearance in text: TP53: 714T>G; Cys238Trp; rs193920789

PubMed Link: 36273232

Variant Present in the following documents:

• 41598_2022_20928_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 714T>G; C238W

PubMed Link: 36238300

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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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: Cys238Trp; rs193920789

PubMed Link: 36201743

Variant Present in the following documents:

• BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6

View BVdb publication page

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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: 714T>G; C238W

PubMed Link: 36123678

Variant Present in the following documents:

• 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: p53: C238W

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1
• mmc5.xlsx, sheet 1

View BVdb publication page

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Single cell spatial analysis reveals the topology of immunomodulatory purinergic signaling in glioblastoma.

Nature Communications

Coy, Shannon S; Wang, Shu S; Stopka, Sylwia A SA; Lin, Jia-Ren JR; Yapp, Clarence C; Ritch, Cecily C CC; Salhi, Lisa L; Baker, Gregory J GJ; Rashid, Rumana R; Baquer, Gerard G; Regan, Michael M; Khadka, Prasidda P; Cole, Kristina A KA; Hwang, Jaeho J; Wen, Patrick Y PY; Bandopadhayay, Pratiti P; Santi, Mariarita M; De Raedt, Thomas T; Ligon, Keith L KL; Agar, Nathalie Y R NYR; Sorger, Peter K PK; Touat, Mehdi M; Santagata, Sandro S

Publication Date: 2022-08-16

Variant appearance in text: TP53: C238W

PubMed Link: 35973991

Variant Present in the following documents:

• 41467_2022_32430_MOESM17_ESM.xlsx, sheet 31

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: C238W

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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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: TP53: C238W

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Phase I trial of daily subcutaneous SPL-108 injections in combination with paclitaxel in patients with platinum resistant CD44+ advanced ovarian epithelial cancer.

International Journal Of Gynecological Cancer : Official Journal Of The International Gynecological Cancer Society

Girda, Eugenia E; Hou, June J; Nelson, David D; Finlayson, Malcolm M; de Meritens, Alexandre Buckley AB; Chekmareiva, Marina M; Leiser, Aliza A; Song, Mihae M; Stephenson, Ruth R; Chan, Nancy N; Tergas, Ana I AI; Vattakalam, Reena R; Wright, Jason D JD; Yu, Hua H; Martincuks, Antons A; Kohut, Adrian A; Palmer, Joycelynne J; Rodriguez-Rodriguez, Lorna L

Publication Date: 2022-06-24

Variant appearance in text: TP53: C238W

PubMed Link: 35750354

Variant Present in the following documents:

• Main text
• ijgc-2021-003316.pdf

View BVdb publication page

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Integrated proteomic analysis of low-grade gliomas reveals contributions of 1p-19q co-deletion to oligodendroglioma.

Acta Neuropathologica Communications

Wong, Derek D; Lee, Tae Hoon TH; Lum, Amy A; Tao, Valerie Lan VL; Yip, Stephen S

Publication Date: 2022-05-07

Variant appearance in text: TP53: 714T>G; Cys238Trp

PubMed Link: 35526077

Variant Present in the following documents:

• 40478_2022_1372_MOESM18_ESM.xlsx, sheet 1

View BVdb publication page

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Integrative proteogenomic characterization of hepatocellular carcinoma across etiologies and stages.

Nature Communications

Ng, Charlotte K Y CKY; Dazert, Eva E; Boldanova, Tuyana T; Coto-Llerena, Mairene M; Nuciforo, Sandro S; Ercan, Caner C; Suslov, Aleksei A; Meier, Marie-Anne MA; Bock, Thomas T; Schmidt, Alexander A; Ketterer, Sylvia S; Wang, Xueya X; Wieland, Stefan S; Matter, Matthias S MS; Colombi, Marco M; Piscuoglio, Salvatore S; Terracciano, Luigi M LM; Hall, Michael N MN; Heim, Markus H MH

Publication Date: 2022-05-04

Variant appearance in text: TP53: 714T>G; C238W; rs193920789

PubMed Link: 35508466

Variant Present in the following documents:

• 41467_2022_29960_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

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A WIN Consortium phase I study exploring avelumab, palbociclib, and axitinib in advanced non-small cell lung cancer.

Cancer Medicine

Solomon, Benjamin B; Callejo, Ana A; Bar, Jair J; Berchem, Guy G; Bazhenova, Lyudmila L; Saintigny, Pierre P; Wunder, Fanny F; Raynaud, Jacques J; Girard, Nicolas N; Lee, J Jack JJ; Sulaiman, Raed R; Prouse, Bruce B; Bresson, Catherine C; Ventura, Hila H; Magidi, Shai S; Rubin, Eitan E; Young, Brandon B; Onn, Amir A; Leyland-Jones, Brian B; Schilsky, Richard L RL; Lazar, Vladimir V; Felip, Enriqueta E; Kurzrock, Razelle R

Publication Date: 2022-07

Variant appearance in text: TP53: C238W

PubMed Link: 35307972

Variant Present in the following documents:

• Main text
• CAM4-11-2790.pdf

View BVdb publication page

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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: 714T>G; C238W

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs193920789

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs193920789

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6

View BVdb publication page

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Longitudinal Monitoring of Plasma Circulating Tumour DNA Enables the Prediction of Early Relapse in Patients with Non-Hodgkin Lymphoma: A Case Series.

Diagnostics (Basel, Switzerland)

Ji, Hongyan H; Long, Xiaolu X; Gu, Jia J; Jin, Jin J; Mao, Xia X; Wang, Zhiqiong Z; Ma, Heng H; Chen, Liting L

Publication Date: 2021-11-05

Variant appearance in text: TP53: Cys238Trp

PubMed Link: 34829401

Variant Present in the following documents:

• Main text
• diagnostics-11-02055.pdf

View BVdb publication page

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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: C238W

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii

Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J

Publication Date: 2021-07-13

Variant appearance in text: TP53: 714T>G; C238W

PubMed Link: 34255132

Variant Present in the following documents:

• 262_2021_3012_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii

Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J

Publication Date: 2022-02

Variant appearance in text: TP53: 714T>G; C238W

PubMed Link: 34255132

Variant Present in the following documents:

• 262_2021_3012_MOESM1_ESM.xlsx, sheet 2

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: 714T>G; C238W

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

View BVdb publication page

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Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology

Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN

Publication Date: 2021

Variant appearance in text: TP53: C238W

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 31

View BVdb publication page

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TP53-Mutated Circulating Tumor DNA for Disease Monitoring in Lymphoma Patients after CAR T Cell Therapy.

Diagnostics (Basel, Switzerland)

Chen, Liting L; Mu, Wei W; Gu, Jia J; Xiao, Min M; Huang, Liang L; Zheng, Miao M; Li, Chunrui C; Xiao, Yi Y; Zhou, Jianfeng J; Long, Xiaolu X

Publication Date: 2021-05-08

Variant appearance in text: TP53: 714T>G; C238W

PubMed Link: 34066756

Variant Present in the following documents:

• Main text

View BVdb publication page

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Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: TP53: C238W

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1
• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: TP53: C238W

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

View BVdb publication page

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Mutational Profile and Clonal Evolution of Relapsed/Refractory Diffuse Large B-Cell Lymphoma.

Frontiers In Oncology

Lee, Boram B; Lee, Hyunwoo H; Cho, Junhun J; Yoon, Sang Eun SE; Kim, Seok Jin SJ; Park, Woong-Yang WY; Kim, Won Seog WS; Ko, Young Hyeh YH

Publication Date: 2021

Variant appearance in text: TP53: C238W

PubMed Link: 33777778

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 1

View BVdb publication page

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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: 714T>G; C238W

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications

Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ

Publication Date: 2021-02-10

Variant appearance in text: TP53: 714T>G; C238W; rs193920789

PubMed Link: 33568653

Variant Present in the following documents:

• 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3

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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: 714T>G; C238W

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Nature Communications

Lang, Guan-Tian GT; Jiang, Yi-Zhou YZ; Shi, Jin-Xiu JX; Yang, Fan F; Li, Xiao-Guang XG; Pei, Yu-Chen YC; Zhang, Chen-Hui CH; Ma, Ding D; Xiao, Yi Y; Hu, Peng-Chen PC; Wang, Hai H; Yang, Yun-Song YS; Guo, Lin-Wei LW; Lu, Xun-Xi XX; Xue, Meng-Zhu MZ; Wang, Peng P; Cao, A-Yong AY; Ling, Hong H; Wang, Zhong-Hua ZH; Yu, Ke-Da KD; Di, Gen-Hong GH; Li, Da-Qiang DQ; Wang, Yun-Jin YJ; Yu, Ying Y; Shi, Le-Ming LM; Hu, Xin X; Huang, Wei W; Shao, Zhi-Ming ZM

Publication Date: 2020-11-10

Variant appearance in text: TP53: C238W

PubMed Link: 33173047

Variant Present in the following documents:

• 41467_2020_19342_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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RNA editing of BFP, a point mutant of GFP, using artificial APOBEC1 deaminase to restore the genetic code.

Scientific Reports

Bhakta, Sonali S; Sakari, Matomo M; Tsukahara, Toshifumi T

Publication Date: 2020-10-14

Variant appearance in text: p53: 714T>G

PubMed Link: 33057101

Variant Present in the following documents:

• 41598_2020_74374_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs193920789

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: TP53: C238W

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Bmc Cancer

Zhang, Wei W; Yang, Li L; Guan, Yu' Qi YQ; Shen, Ke' Feng KF; Zhang, Mei' Lan ML; Cai, Hao' Dong HD; Wang, Jia' Chen JC; Wang, Ying Y; Huang, Liang L; Cao, Yang Y; Wang, Na N; Tan, Xiao' Hong XH; Young, Ken He KH; Xiao, Min M; Zhou, Jian' Feng JF

Publication Date: 2020-07-31

Variant appearance in text: TP53: 714T>G; Cys238Trp

PubMed Link: 32736575

Variant Present in the following documents:

• 12885_2020_7198_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Defining relative mutational difficulty to understand cancer formation.

Cell Discovery

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

Publication Date: 2020

Variant appearance in text: p53: C238W

PubMed Link: 32704382

Variant Present in the following documents:

• 41421_2020_177_MOESM5_ESM.xlsx, sheet 1
• 41421_2020_177_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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White blood cell and cell-free DNA analyses for detection of residual disease in gastric cancer.

Nature Communications

Leal, Alessandro A; van Grieken, Nicole C T NCT; Palsgrove, Doreen N DN; Phallen, Jillian J; Medina, Jamie E JE; Hruban, Carolyn C; Broeckaert, Mark A M MAM; Anagnostou, Valsamo V; Adleff, Vilmos V; Bruhm, Daniel C DC; Canzoniero, Jenna V JV; Fiksel, Jacob J; Nordsmark, Marianne M; Warmerdam, Fabienne A R M FARM; Verheul, Henk M W HMW; van Spronsen, Dick Johan DJ; Beerepoot, Laurens V LV; Geenen, Maud M MM; Portielje, Johanneke E A JEA; Jansen, Edwin P M EPM; van Sandick, Johanna J; Meershoek-Klein Kranenbarg, Elma E; van Laarhoven, Hanneke W M HWM; van der Peet, Donald L DL; van de Velde, Cornelis J H CJH; Verheij, Marcel M; Fijneman, Remond R; Scharpf, Robert B RB; Meijer, Gerrit A GA; Cats, Annemieke A; Velculescu, Victor E VE

Publication Date: 2020-01-27

Variant appearance in text: TP53: C238W

PubMed Link: 31988276

Variant Present in the following documents:

• 41467_2020_14310_MOESM6_ESM.xlsx, sheet 7
• 41467_2020_14310_MOESM10_ESM.xlsx, sheet 1
• 41467_2020_14310_MOESM9_ESM.xlsx, sheet 1
• 41467_2020_14310_MOESM6_ESM.xlsx, sheet 6
• 41467_2020_14310_MOESM6_ESM.xlsx, sheet 8
• 41467_2020_14310_MOESM8_ESM.xlsx, sheet 1

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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: 714T>G; C238W

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: TP53: 714T>G; C238W; rs193920789

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: TP53: 714T>G; C238W

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Rare, functional, somatic variants in gene families linked to cancer genes: GPCR signaling as a paradigm.

Oncogene

Raimondi, Francesco F; Inoue, Asuka A; Kadji, Francois M N FMN; Shuai, Ni N; Gonzalez, Juan-Carlos JC; Singh, Gurdeep G; de la Vega, Alicia Alonso AA; Sotillo, Rocio R; Fischer, Bernd B; Aoki, Junken J; Gutkind, J Silvio JS; Russell, Robert B RB

Publication Date: 2019-09

Variant appearance in text: TP53: C238W

PubMed Link: 31337866

Variant Present in the following documents:

• 41388_2019_895_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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

Plos Computational Biology

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

Publication Date: 2019-04

Variant appearance in text: TP53: C238W

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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The repertoire of genetic alterations in salivary duct carcinoma including a novel HNRNPH3-ALK rearrangement.

Human Pathology

Dogan, Snjezana S; Ng, Charlotte K Y CKY; Xu, Bin B; Kumar, Rahul R; Wang, Lu L; Edelweiss, Marcia M; Scott, Sasinya N SN; Zehir, Ahmet A; Drilon, Alexander A; Morris, Luc G T LGT; Lee, Nancy Y NY; Antonescu, Cristina R CR; Ho, Alan L AL; Katabi, Nora N; Berger, Michael F MF; Reis-Filho, Jorge S JS

Publication Date: 2019-06

Variant appearance in text: TP53: C238W

PubMed Link: 30946933

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Bayesian framework for efficient and accurate variant prediction.

Plos One

Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH

Publication Date: 2018

Variant appearance in text: TP53: 714T>G; C238W

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications

Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM

Publication Date: 2018-09-10

Variant appearance in text: TP53: 714T>G; C238W

PubMed Link: 30202019

Variant Present in the following documents:

• 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
• 41467_2018_6027_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: TP53: 714T>G; Cys238Trp; rs193920789

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s3.xlsx, sheet 9

View BVdb publication page

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Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd

Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D

Publication Date: 2018-09

Variant appearance in text: TP53: C238W

PubMed Link: 29936259

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

View BVdb publication page

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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology

Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I

Publication Date: 2018-07

Variant appearance in text: TP53: 714T>G; C238W

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s021.xlsx, sheet 1

View BVdb publication page

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Next-generation Sequencing Reveals Recurrent Somatic Mutations in Small Cell Neuroendocrine Carcinoma of the Uterine Cervix.

The American Journal Of Surgical Pathology

Xing, Deyin D; Zheng, Gang G; Schoolmeester, John Kenneth JK; Li, Zaibo Z; Pallavajjala, Aparna A; Haley, Lisa L; Conner, Michael G MG; Vang, Russell R; Hung, Chien-Fu CF; Wu, Tzyy-Choou TC; Ronnett, Brigitte M BM

Publication Date: 2018-06

Variant appearance in text: TP53: C238W

PubMed Link: 29505425

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrative genomic and transcriptomic analysis of leiomyosarcoma.

Nature Communications

Chudasama, Priya P; Mughal, Sadaf S SS; Sanders, Mathijs A MA; Hübschmann, Daniel D; Chung, Inn I; Deeg, Katharina I KI; Wong, Siao-Han SH; Rabe, Sophie S; Hlevnjak, Mario M; Zapatka, Marc M; Ernst, Aurélie A; Kleinheinz, Kortine K; Schlesner, Matthias M; Sieverling, Lina L; Klink, Barbara B; Schröck, Evelin E; Hoogenboezem, Remco M RM; Kasper, Bernd B; Heilig, Christoph E CE; Egerer, Gerlinde G; Wolf, Stephan S; von Kalle, Christof C; Eils, Roland R; Stenzinger, Albrecht A; Weichert, Wilko W; Glimm, Hanno H; Gröschel, Stefan S; Kopp, Hans-Georg HG; Omlor, Georg G; Lehner, Burkhard B; Bauer, Sebastian S; Schimmack, Simon S; Ulrich, Alexis A; Mechtersheimer, Gunhild G; Rippe, Karsten K; Brors, Benedikt B; Hutter, Barbara B; Renner, Marcus M; Hohenberger, Peter P; Scholl, Claudia C; Fröhling, Stefan S

Publication Date: 2018-01-10

Variant appearance in text: TP53: 714T>G

PubMed Link: 29321523

Variant Present in the following documents:

• 41467_2017_2602_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.

Genome Medicine

Li, Shuyu D SD; Ma, Meng M; Li, Hui H; Waluszko, Aneta A; Sidorenko, Tatyana T; Schadt, Eric E EE; Zhang, David Y DY; Chen, Rong R; Ye, Fei F

Publication Date: 2017-10-30

Variant appearance in text: TP53: 714T>G; C238W

PubMed Link: 29082853

Variant Present in the following documents:

• 13073_2017_478_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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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: 714T>G; C238W

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular profiling of signet ring cell colorectal cancer provides a strong rationale for genomic targeted and immune checkpoint inhibitor therapies.

British Journal Of Cancer

Alvi, Muhammad A MA; Loughrey, Maurice B MB; Dunne, Philip P; McQuaid, Stephen S; Turkington, Richard R; Fuchs, Marc-Aurel MA; McGready, Claire C; Bingham, Victoria V; Pang, Brendan B; Moore, Wendy W; Maxwell, Perry P; Lawler, Mark M; James, Jacqueline A JA; Murray, Graeme I GI; Wilson, Richard H RH; Salto-Tellez, Manuel M

Publication Date: 2017-07-11

Variant appearance in text: rs193920789

PubMed Link: 28595259

Variant Present in the following documents:

• bjc2017168x11.xlsx, sheet 1

View BVdb publication page

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[Clinical analyses of 50 cases of myelodysplastic syndrome with deletion of chromosome 5q].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

He, Y Y; Du, X X; Weng, J Y JY; Deng, C X CX; Geng, S X SX; Lu, Z S ZS; Li, M M MM; Liao, P J PJ; Luo, C W CW; Wu, S J SJ; Zhong, L Y LY

Publication Date: 2017-02-14

Variant appearance in text: TP53: 714T>G

PubMed Link: 28279041

Variant Present in the following documents:

• cjh-38-02-153.pdf

View BVdb publication page

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Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.

Plos Medicine

Hamblin, Angela A; Wordsworth, Sarah S; Fermont, Jilles M JM; Page, Suzanne S; Kaur, Kulvinder K; Camps, Carme C; Kaisaki, Pamela P; Gupta, Avinash A; Talbot, Denis D; Middleton, Mark M; Henderson, Shirley S; Cutts, Anthony A; Vavoulis, Dimitrios V DV; Housby, Nick N; Tomlinson, Ian I; Taylor, Jenny C JC; Schuh, Anna A

Publication Date: 2017-02

Variant appearance in text: TP53: C238W

PubMed Link: 28196074

Variant Present in the following documents:

• pmed.1002230.s004.xlsx, sheet 2

View BVdb publication page

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DNA copy number changes define spatial patterns of heterogeneity in colorectal cancer.

Nature Communications

Mamlouk, Soulafa S; Childs, Liam Harold LH; Aust, Daniela D; Heim, Daniel D; Melching, Friederike F; Oliveira, Cristiano C; Wolf, Thomas T; Durek, Pawel P; Schumacher, Dirk D; Bläker, Hendrik H; von Winterfeld, Moritz M; Gastl, Bastian B; Möhr, Kerstin K; Menne, Andrea A; Zeugner, Silke S; Redmer, Torben T; Lenze, Dido D; Tierling, Sascha S; Möbs, Markus M; Weichert, Wilko W; Folprecht, Gunnar G; Blanc, Eric E; Beule, Dieter D; Schäfer, Reinhold R; Morkel, Markus M; Klauschen, Frederick F; Leser, Ulf U; Sers, Christine C

Publication Date: 2017-01-25

Variant appearance in text: TP53: 714T>G; C238W

PubMed Link: 28120820

Variant Present in the following documents:

• ncomms14093-s2.xlsx, sheet 1

View BVdb publication page

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Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinoma.

Nature Communications

Cammareri, Patrizia P; Rose, Aidan M AM; Vincent, David F DF; Wang, Jun J; Nagano, Ai A; Libertini, Silvana S; Ridgway, Rachel A RA; Athineos, Dimitris D; Coates, Philip J PJ; McHugh, Angela A; Pourreyron, Celine C; Dayal, Jasbani H S JH; Larsson, Jonas J; Weidlich, Simone S; Spender, Lindsay C LC; Sapkota, Gopal P GP; Purdie, Karin J KJ; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM; Clevers, Hans H; Barker, Nick N; Karlsson, Stefan S; Pritchard, Catrin C; Marais, Richard R; Chelala, Claude C; South, Andrew P AP; Sansom, Owen J OJ; Inman, Gareth J GJ

Publication Date: 2016-08-25

Variant appearance in text: TP53: C238W

PubMed Link: 27558455

Variant Present in the following documents:

• ncomms12493-s9.xlsx, sheet 1
• ncomms12493-s14.xlsx, sheet 1

View BVdb publication page

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Analytical and Clinical Validation of a Digital Sequencing Panel for Quantitative, Highly Accurate Evaluation of Cell-Free Circulating Tumor DNA.

Plos One

Lanman, Richard B RB; Mortimer, Stefanie A SA; Zill, Oliver A OA; Sebisanovic, Dragan D; Lopez, Rene R; Blau, Sibel S; Collisson, Eric A EA; Divers, Stephen G SG; Hoon, Dave S B DS; Kopetz, E Scott ES; Lee, Jeeyun J; Nikolinakos, Petros G PG; Baca, Arthur M AM; Kermani, Bahram G BG; Eltoukhy, Helmy H; Talasaz, AmirAli A

Publication Date: 2015

Variant appearance in text: TP53: C238W; rs193920789

PubMed Link: 26474073

Variant Present in the following documents:

• pone.0140712.s004.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TP53: C238W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Targeted deep sequencing of mucinous ovarian tumors reveals multiple overlapping RAS-pathway activating mutations in borderline and cancerous neoplasms.

Bmc Cancer

Mackenzie, Robertson R; Kommoss, Stefan S; Winterhoff, Boris J BJ; Kipp, Benjamin R BR; Garcia, Joaquin J JJ; Voss, Jesse J; Halling, Kevin K; Karnezis, Anthony A; Senz, Janine J; Yang, Winnie W; Prigge, Elena-Sophie ES; Reuschenbach, Miriam M; Doeberitz, Magnus Von Knebel MV; Gilks, Blake C BC; Huntsman, David G DG; Bakkum-Gamez, Jamie J; McAlpine, Jessica N JN; Anglesio, Michael S MS

Publication Date: 2015-05-19

Variant appearance in text: TP53: 714T>G; Cys238Trp

PubMed Link: 25986173

Variant Present in the following documents:

• 12885_2015_1421_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: TP53: C238W

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

View BVdb publication page

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Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

British Journal Of Cancer

Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB

Publication Date: 2015-04-14

Variant appearance in text: p53: 714T>G; rs193920789

PubMed Link: 25742471

Variant Present in the following documents:

• bjc201580x7.xls, sheet 1

View BVdb publication page

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

Genome Biology

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

Publication Date: 2014-10-28

Variant appearance in text: TP53: C238W

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Detailed analysis of therapy-driven clonal evolution of TP53 mutations in chronic lymphocytic leukemia.

Leukemia

Malcikova, J J; Stano-Kozubik, K K; Tichy, B B; Kantorova, B B; Pavlova, S S; Tom, N N; Radova, L L; Smardova, J J; Pardy, F F; Doubek, M M; Brychtova, Y Y; Mraz, M M; Plevova, K K; Diviskova, E E; Oltova, A A; Mayer, J J; Pospisilova, S S; Trbusek, M M

Publication Date: 2015-04

Variant appearance in text: TP53: 714T>G; C238W

PubMed Link: 25287991

Variant Present in the following documents:

• leu2014297x1.pdf

View BVdb publication page

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