Publications:

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Spectrum of High-Risk Mutations among Breast Cancer Patients Referred for Multigene Panel Testing in a Romanian Population.

Cancers

Goidescu, Iulian Gabriel IG; Nemeti, Georgiana G; Surcel, Mihai M; Caracostea, Gabriela G; Florian, Andreea Roxana AR; Cruciat, Gheorghe G; Staicu, Adelina A; Muresan, Daniel D; Goidescu, Cerasela C; Pintican, Roxana R; Eniu, Dan Tudor DT

Publication Date: 2023-03-22

Variant appearance in text: TP53: 847C>T

PubMed Link: 36980780

Variant Present in the following documents:

• Main text
• cancers-15-01895.pdf

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: 847C>T; R283C; rs149633775

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1
• crc-22-0136-s01.xlsx, sheet 2

View BVdb publication page

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Pharmacogenomic profiling reveals molecular features of chemotherapy resistance in IDH wild-type primary glioblastoma.

Genome Medicine

Nam, Yoonhee Y; Koo, Harim H; Yang, Yingxi Y; Shin, Sang S; Zhu, Zhihan Z; Kim, Donggeon D; Cho, Hee Jin HJ; Mu, Quanhua Q; Choi, Seung Won SW; Sa, Jason K JK; Seo, Yun Jee YJ; Kim, Yejin Y; Lee, Kyoungmin K; Oh, Jeong-Woo JW; Kwon, Yong-Jun YJ; Park, Woong-Yang WY; Kong, Doo-Sik DS; Seol, Ho Jun HJ; Lee, Jung-Il JI; Park, Chul-Kee CK; Lee, Hye Won HW; Yoon, Yeup Y; Wang, Jiguang J

Publication Date: 2023-03-13

Variant appearance in text: TP53: R283C

PubMed Link: 36915208

Variant Present in the following documents:

• 13073_2023_1165_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: TP53: R283C

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Dynamics of age- versus therapy-related clonal hematopoiesis in long-term survivors of pediatric cancer.

Cancer Discovery

Hagiwara, Kohei K; Natarajan, Sivaraman S; Wang, Zhaoming Z; Zubair, Haseeb H; Mulder, Heather L HL; Dong, Li L; Plyler, Emily M EM; Thimmaiah, Padma P; Ma, Xiaotu X; Ness, Kirsten K KK; Li, Zhenghong Z; Mulrooney, Daniel A DA; Wilson, Carmen L CL; Yasui, Yutaka Y; Hudson, Melissa M MM; Easton, John J; Robison, Leslie L LL; Zhang, Jinghui J

Publication Date: 2023-02-08

Variant appearance in text: TP53: R283C

PubMed Link: 36751942

Variant Present in the following documents:

• cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 4

View BVdb publication page

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Characterization of driver mutations in Chinese non-small cell lung cancer patients using a novel targeted sequencing panel.

Journal Of Thoracic Disease

Zhao, Jing J; Wu, Yang Y; Chen, Min-Jiang MJ; Xu, Yan Y; Zhong, Wei W; Wang, Meng-Zhao MZ

Publication Date: 2022-12

Variant appearance in text: TP53: R283C

PubMed Link: 36647494

Variant Present in the following documents:

• Main text
• jtd-14-12-4669.pdf

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: rs149633775

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: R283C

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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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: 847C>T; R283C

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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PIK3CA mutations associated with a poor postoperative prognosis in patients with pulmonary pleomorphic carcinoma: a retrospective cohort study.

Bmc Cancer

Kojima, Kensuke K; Imai, Saki S; Samejima, Hironobu H; Fujiwara, Ayako A; Tokunaga, Toshiteru T; Yoon, Hyungeun H; Okishio, Kyoichi K

Publication Date: 2022-10-15

Variant appearance in text: TP53: 847C>T; R283C

PubMed Link: 36243681

Variant Present in the following documents:

• 12885_2022_10176_MOESM1_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: R283C

PubMed Link: 36117989

Variant Present in the following documents:

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

View BVdb publication page

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The spectrum of subclonal TP53 mutations in chronic lymphocytic leukemia: A next generation sequencing retrospective study.

Hematological Oncology

De Luca, Giuseppa G; Cerruti, Giannamaria G; Lastraioli, Sonia S; Conte, Romana R; Ibatici, Adalberto A; Di Felice, Nikki N; Morabito, Fortunato F; Monti, Paola P; Fronza, Gilberto G; Matis, Serena S; Colombo, Monica M; Fabris, Sonia S; Ciarrocchi, Alessia A; Neri, Antonino A; Menichini, Paola P; Ferrarini, Manlio M; Nozza, Paolo P; Fais, Franco F; Cutrona, Giovanna G; Dono, Mariella M

Publication Date: 2022-08-12

Variant appearance in text: TP53: 847C>T; Arg283Cys

PubMed Link: 35961859

Variant Present in the following documents:

• HON-40-962-s001.xlsx, sheet 1

View BVdb publication page

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The Identification by Exome Sequencing of Candidate Genes in BRCA-Negative Tunisian Patients at a High Risk of Hereditary Breast/Ovarian Cancer.

Genes

BenAyed-Guerfali, Dorra D; Kifagi, Chamseddine C; BenKridis-Rejeb, Wala W; Ammous-Boukhris, Nihel N; Ayedi, Wajdi W; Khanfir, Afef A; Daoud, Jamel J; Mokdad-Gargouri, Raja R

Publication Date: 2022-07-22

Variant appearance in text: TP53: 847C>T; Arg283*

PubMed Link: 35893033

Variant Present in the following documents:

• genes-13-01296.pdf

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: R283C

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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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: 847C>T; P283S

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: TP53: R283C

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature

Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS

Publication Date: 2022-06

Variant appearance in text: TP53: R283C

PubMed Link: 35650444

Variant Present in the following documents:

• 41586_2022_4785_MOESM13_ESM.xlsx, sheet 4
• 41586_2022_4785_MOESM13_ESM.xlsx, sheet 3

View BVdb publication page

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Aberrantly Activated APOBEC3B Is Associated With Mutant p53-Driven Refractory/Relapsed Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology

Zhang, Xuzhao X; Wu, Zhaoxing Z; Hao, Yuanyuan Y; Yu, Teng T; Li, Xian X; Liang, Yun Y; Li, Jinfan J; Huang, Liansheng L; Xu, Yang Y; Li, Xiuzhen X; Xu, Xiaohua X; Wang, Weiqin W; Xu, Genbo G; Zhang, Xiaohong X; Lv, Qinghua Q; Fang, Yongming Y; Xu, Rongzhen R; Qian, Wenbin W

Publication Date: 2022

Variant appearance in text: p53: R283C

PubMed Link: 35592333

Variant Present in the following documents:

• Main text
• fimmu-13-888250.pdf

View BVdb publication page

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Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.

American Journal Of Human Genetics

Palles, Claire C; West, Hannah D HD; Chew, Edward E; Galavotti, Sara S; Flensburg, Christoffer C; Grolleman, Judith E JE; Jansen, Erik A M EAM; Curley, Helen H; Chegwidden, Laura L; Arbe-Barnes, Edward H EH; Lander, Nicola N; Truscott, Rebekah R; Pagan, Judith J; Bajel, Ashish A; Sherwood, Kitty K; Martin, Lynn L; Thomas, Huw H; Georgiou, Demetra D; Fostira, Florentia F; Goldberg, Yael Y; Adams, David J DJ; van der Biezen, Simone A M SAM; Christie, Michael M; Clendenning, Mark M; Thomas, Laura E LE; Deltas, Constantinos C; Dimovski, Aleksandar J AJ; Dymerska, Dagmara D; Lubinski, Jan J; Mahmood, Khalid K; van der Post, Rachel S RS; Sanders, Mathijs M; Weitz, Jürgen J; Taylor, Jenny C JC; Turnbull, Clare C; Vreede, Lilian L; van Wezel, Tom T; Whalley, Celina C; Arnedo-Pac, Claudia C; Caravagna, Giulio G; Cross, William W; Chubb, Daniel D; Frangou, Anna A; Gruber, Andreas J AJ; Kinnersley, Ben B; Noyvert, Boris B; Church, David D; Graham, Trevor T; Houlston, Richard R; Lopez-Bigas, Nuria N; Sottoriva, Andrea A; Wedge, David D; , ; , ; , ; Jenkins, Mark A MA; Kuiper, Roland P RP; Roberts, Andrew W AW; Cheadle, Jeremy P JP; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N; Koelzer, Viktor H VH; Rivas, Andres Dacal AD; Winship, Ingrid M IM; Ponte, Clara Ruiz CR; Buchanan, Daniel D DD; Power, Derek G DG; Green, Andrew A; Tomlinson, Ian P M IPM; Sampson, Julian R JR; Majewski, Ian J IJ; de Voer, Richarda M RM

Publication Date: 2022-05-05

Variant appearance in text: TP53: 847C>T; Arg283Ter

PubMed Link: 35460607

Variant Present in the following documents:

• mmc2.xlsx, sheet 2

View BVdb publication page

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The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.

Frontiers In Oncology

Andrikopoulou, Angeliki A; Chatzinikolaou, Spyridoula S; Kyriopoulos, Ilias I; Bletsa, Garyfalia G; Kaparelou, Maria M; Liontos, Michalis M; Dimopoulos, Meletios-Athanasios MA; Zagouri, Flora F

Publication Date: 2021

Variant appearance in text: TP53: 847C>T; Arg283Cys; rs149633775

PubMed Link: 35127508

Variant Present in the following documents:

• Main text
• fonc-11-797505.pdf

View BVdb publication page

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Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N

Publication Date: 2022-06-01

Variant appearance in text: rs149633775

PubMed Link: 35101884

Variant Present in the following documents:

• ccr-21-2572_supplementary_table_s1_supps1.xlsx, sheet 2

View BVdb publication page

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TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Briefings In Bioinformatics

Ben-Cohen, Gil G; Doffe, Flora F; Devir, Michal M; Leroy, Bernard B; Soussi, Thierry T; Rosenberg, Shai S

Publication Date: 2022-03-10

Variant appearance in text: TP53: 847C>T; R283C; rs149633775

PubMed Link: 35043155

Variant Present in the following documents:

• Main text
• supplementary_information_bbab524.pdf
• supplementary_table_s7_bbab524.xlsx, sheet 2
• bbab524.pdf
• supplementary_figure_s4a_and_b_bbab524.pdf

View BVdb publication page

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Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

European Journal Of Human Genetics : Ejhg

McGuigan, Anthony A; Whitworth, James J; Andreou, Avgi A; Hearn, Timothy T; , ; Tischkowitz, Marc M; Maher, Eamonn R ER

Publication Date: 2022-03

Variant appearance in text: TP53: 847C>T; Arg283Cys

PubMed Link: 34983940

Variant Present in the following documents:

• 41431_2021_1013_MOESM1_ESM.pdf

View BVdb publication page

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Case Report: Malignant Primary Sellar Paraganglioma With Unusual Genetic and Imaging Features.

Frontiers In Oncology

Stojanoski, Stefan S; Boldt, Henning Bünsow HB; Kozic, Dusko D; Patócs, Attila A; Korbonits, Márta M; Medic-Stojanoska, Milica M; Casar-Borota, Olivera O

Publication Date: 2021

Variant appearance in text: TP53: 847C>T

PubMed Link: 34888235

Variant Present in the following documents:

• Main text
• fonc-11-739255.pdf

View BVdb publication page

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Proteogenomics of non-small cell lung cancer reveals molecular subtypes associated with specific therapeutic targets and immune evasion mechanisms.

Nature Cancer

Lehtiö, Janne J; Arslan, Taner T; Siavelis, Ioannis I; Pan, Yanbo Y; Socciarelli, Fabio F; Berkovska, Olena O; Umer, Husen M HM; Mermelekas, Georgios G; Pirmoradian, Mohammad M; Jönsson, Mats M; Brunnström, Hans H; Brustugun, Odd Terje OT; Purohit, Krishna Pinganksha KP; Cunningham, Richard R; Foroughi Asl, Hassan H; Isaksson, Sofi S; Arbajian, Elsa E; Aine, Mattias M; Karlsson, Anna A; Kotevska, Marija M; Gram Hansen, Carsten C; Drageset Haakensen, Vilde V; Helland, Åslaug Å; Tamborero, David D; Johansson, Henrik J HJ; Branca, Rui M RM; Planck, Maria M; Staaf, Johan J; Orre, Lukas M LM

Publication Date: 2021-11

Variant appearance in text: TP53: 847C>T; Arg283Cys

PubMed Link: 34870237

Variant Present in the following documents:

• EMS133264-supplement-Supplementary_Tables.xlsx, sheet 9

View BVdb publication page

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TP53 mutations are associated with primary endocrine resistance in luminal early breast cancer.

Cancer Medicine

Grote, Isabel I; Bartels, Stephan S; Kandt, Leonie L; Bollmann, Laura L; Christgen, Henriette H; Gronewold, Malte M; Raap, Mieke M; Lehmann, Ulrich U; Gluz, Oleg O; Nitz, Ulrike U; Kuemmel, Sherko S; Zu Eulenburg, Christine C; Braun, Michael M; Aktas, Bahriye B; Grischke, Eva-Maria EM; Schumacher, Claudia C; Luedtke-Heckenkamp, Kerstin K; Kates, Ronald R; Wuerstlein, Rachel R; Graeser, Monika M; Harbeck, Nadia N; Christgen, Matthias M; Kreipe, Hans H

Publication Date: 2021-12

Variant appearance in text: TP53: 847C>T; R283C

PubMed Link: 34779146

Variant Present in the following documents:

• CAM4-10-8581-s002.xlsx, sheet 1

View BVdb publication page

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TP53 mutations are associated with primary endocrine resistance in luminal early breast cancer.

Cancer Medicine

Grote, Isabel I; Bartels, Stephan S; Kandt, Leonie L; Bollmann, Laura L; Christgen, Henriette H; Gronewold, Malte M; Raap, Mieke M; Lehmann, Ulrich U; Gluz, Oleg O; Nitz, Ulrike U; Kuemmel, Sherko S; Zu Eulenburg, Christine C; Braun, Michael M; Aktas, Bahriye B; Grischke, Eva-Maria EM; Schumacher, Claudia C; Luedtke-Heckenkamp, Kerstin K; Kates, Ronald R; Wuerstlein, Rachel R; Graeser, Monika M; Harbeck, Nadia N; Christgen, Matthias M; Kreipe, Hans H

Publication Date: 2021-12

Variant appearance in text: TP53: 847C>T; R283C

PubMed Link: 34779146

Variant Present in the following documents:

• CAM4-10-8581-s002.xlsx, sheet 1

View BVdb publication page

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Evaluation of Feature Selection Techniques for Breast Cancer Risk Prediction.

International Journal Of Environmental Research And Public Health

López, Nahúm Cueto NC; García-Ordás, María Teresa MT; Vitelli-Storelli, Facundo F; Fernández-Navarro, Pablo P; Palazuelos, Camilo C; Alaiz-Rodríguez, Rocío R

Publication Date: 2021-10-12

Variant appearance in text: rs149633775

PubMed Link: 34682416

Variant Present in the following documents:

• Main text
• ijerph-18-10670.pdf

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: TP53: R283C

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.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: 847C>T; R283C

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology

Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH

Publication Date: 2021-05-17

Variant appearance in text: TP53: R283C

PubMed Link: 34001194

Variant Present in the following documents:

• 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical Outcomes in Patients with Multi-Hit TP53 Chronic Lymphocytic Leukemia Treated with Ibrutinib.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Brieghel, Christian C; Aarup, Kathrine K; Torp, Mathias H MH; Andersen, Michael A MA; Yde, Christina W CW; Tian, Xin X; Wiestner, Adrian A; Ahn, Inhye E IE; Niemann, Carsten U CU

Publication Date: 2021-08-15

Variant appearance in text: TP53: 847C>T

PubMed Link: 33963002

Variant Present in the following documents:

• Main text

View BVdb publication page

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A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.

Ebiomedicine

Hoyer, K K; Hablesreiter, R R; Inoue, Y Y; Yoshida, K K; Briest, F F; Christen, F F; Kakiuchi, N N; Yoshizato, T T; Shiozawa, Y Y; Shiraishi, Y Y; Striefler, J K JK; Bischoff, S S; Lohneis, P P; Putter, H H; Blau, O O; Keilholz, U U; Bullinger, L L; Pelzer, U U; Hummel, M M; Riess, H H; Ogawa, S S; Sinn, M M; Damm, F F

Publication Date: 2021-04

Variant appearance in text: TP53: R283C

PubMed Link: 33862582

Variant Present in the following documents:

• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 4

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: TP53: 847C>T; Arg283Cys; rs149633775

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: TP53: 847C>T; Arg283Cys; rs149633775

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

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: 847C>T; R283C

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.

Human Mutation

Fortuno, Cristina C; Lee, Kristy K; Olivier, Magali M; Pesaran, Tina T; Mai, Phuong L PL; de Andrade, Kelvin C KC; Attardi, Laura D LD; Crowley, Stephanie S; Evans, D Gareth DG; Feng, Bing-Jian BJ; Foreman, Ann K M AKM; Frone, Megan N MN; Huether, Robert R; James, Paul A PA; McGoldrick, Kelly K; Mester, Jessica J; Seifert, Bryce A BA; Slavin, Thomas P TP; Witkowski, Leora L; Zhang, Liying L; Plon, Sharon E SE; Spurdle, Amanda B AB; Savage, Sharon A SA; ,

Publication Date: 2021-03

Variant appearance in text: TP53: 847C>T

PubMed Link: 33300245

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: TP53: 847C>T

PubMed Link: 33257846

Variant Present in the following documents:

• Main text
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 4
• 41418_2020_672_MOESM2_ESM.pdf
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
• 41418_2020_672_MOESM5_ESM.xlsx, sheet 2
• 41418_2020_Article_672.pdf

View BVdb publication page

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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: TP53: 847C>T

PubMed Link: 33257846

Variant Present in the following documents:

• Main text
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 4
• 41418_2020_672_MOESM2_ESM.pdf
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
• 41418_2020_672_MOESM5_ESM.xlsx, sheet 2
• 41418_2020_Article_672.pdf

View BVdb publication page

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Time to first treatment and P53 dysfunction in chronic lymphocytic leukaemia: results of the O-CLL1 study in early stage patients.

Scientific Reports

Monti, Paola P; Lionetti, Marta M; De Luca, Giuseppa G; Menichini, Paola P; Recchia, Anna Grazia AG; Matis, Serena S; Colombo, Monica M; Fabris, Sonia S; Speciale, Andrea A; Barbieri, Marzia M; Gentile, Massimo M; Zupo, Simonetta S; Dono, Mariella M; Ibatici, Adalberto A; Neri, Antonino A; Ferrarini, Manlio M; Fais, Franco F; Fronza, Gilberto G; Cutrona, Giovanna G; Morabito, Fortunato F

Publication Date: 2020-10-28

Variant appearance in text: TP53: Arg283Cys

PubMed Link: 33116240

Variant Present in the following documents:

• Main text
• 41598_2020_Article_75364.pdf

View BVdb publication page

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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: 847C>T

PubMed Link: 33051313

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 847C>T

PubMed Link: 33051313

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrative genomic analysis focused on cell cycle genes for MYC-driven aggressive mature B-cell lymphoma.

Journal Of Clinical And Experimental Hematopathology : Jceh

Yamashita, Takahisa T; Vollbrecht, Claudia C; Hirsch, Burkhard B; Kleo, Karsten K; Anagnostopoulos, Ioannis I; Hummel, Michael M

Publication Date: 2020

Variant appearance in text: TP53: 847C>T

PubMed Link: 32981916

Variant Present in the following documents:

• Main text
• jslrt-60-87-s001.pdf

View BVdb publication page

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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: R283C

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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Editorial: Using Cancer 'Omics' to Understand Cancer.

Frontiers In Oncology

Dunn, Barbara K BK; Meerzaman, Daoud D

Publication Date: 2020

Variant appearance in text: TP53: 847C>T; Arg283Cys

PubMed Link: 32850349

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.

Jco Precision Oncology

MacFarland, Suzanne P SP; Zelley, Kristin K; Surrey, Lea F LF; Gallo, Daniel D; Luo, Minjie M; Raman, Pichai P; Wertheim, Gerald G; Hunger, Stephen P SP; Li, Marilyn M MM; Brodeur, Garrett M GM

Publication Date: 2019

Variant appearance in text: TP53: 847C>T; Arg283Cys

PubMed Link: 32783018

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proliferative Classification of Intracranially Injected HER2-positive Breast Cancer Cell Lines.

Cancers

Kuroiwa, Yuka Y; Nakayama, Jun J; Adachi, Chihiro C; Inoue, Takafumi T; Watanabe, Shinya S; Semba, Kentaro K

Publication Date: 2020-07-06

Variant appearance in text: TP53: R283C

PubMed Link: 32640677

Variant Present in the following documents:

• Main text
• cancers-12-01811.pdf

View BVdb publication page

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Clinical Multigene Panel Sequencing Identifies Distinct Mutational Association Patterns in Metastatic Colorectal Cancer.

Frontiers In Oncology

Belardinilli, Francesca F; Capalbo, Carlo C; Malapelle, Umberto U; Pisapia, Pasquale P; Raimondo, Domenico D; Milanetti, Edoardo E; Yasaman, Mahdavian M; Liccardi, Carlotta C; Paci, Paola P; Sibilio, Pasquale P; Pepe, Francesco F; Bonfiglio, Caterina C; Mezi, Silvia S; Magri, Valentina V; Coppa, Anna A; Nicolussi, Arianna A; Gradilone, Angela A; Petroni, Marialaura M; Di Giulio, Stefano S; Fabretti, Francesca F; Infante, Paola P; Coni, Sonia S; Canettieri, Gianluca G; Troncone, Giancarlo G; Giannini, Giuseppe G

Publication Date: 2020

Variant appearance in text: TP53: R283C

PubMed Link: 32457828

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Molecular Diagnostic of Solid Tumor Using a Next Generation Sequencing Custom-Designed Multi-Gene Panel.

Diagnostics (Basel, Switzerland)

de Biase, Dario D; Acquaviva, Giorgia G; Visani, Michela M; Sanza, Viviana V; Argento, Chiara M CM; De Leo, Antonio A; Maloberti, Thais T; Pession, Annalisa A; Tallini, Giovanni G

Publication Date: 2020-04-23

Variant appearance in text: TP53: 847C>T; R283C

PubMed Link: 32340363

Variant Present in the following documents:

• Main text
• diagnostics-10-00250-s001.pdf
• diagnostics-10-00250.pdf

View BVdb publication page

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