Publications:

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Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.

Biomedicines

Cătană, Andreea A; Trifa, Adrian P AP; Achimas-Cadariu, Patriciu A PA; Bolba-Morar, Gabriela G; Lisencu, Carmen C; Kutasi, Eniko E; Chelaru, Vlad F VF; Muntean, Maximilian M; Martin, Daniela L DL; Antone, Nicoleta Z NZ; Fetica, Bogdan B; Pop, Florina F; Militaru, Mariela S MS

Publication Date: 2023-05-08

Variant appearance in text: TP53: 1025G>C; Arg342Pro

PubMed Link: 37239058

Variant Present in the following documents:

• biomedicines-11-01386.pdf

View BVdb publication page

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Somatic mutation detection and KRAS amplification in testicular germ cell tumors.

Frontiers In Oncology

Cabral, Eduardo R M ERM; Pacanhella, Marilia F MF; Lengert, Andre V H AVH; Dos Reis, Mariana B MB; Leal, Leticia F LF; de Lima, Marcos A MA; da Silva, Aline L V ALV; Pinto, Icaro A IA; Reis, Rui M RM; Pinto, Mariana T MT; Cárcano, Flavio M FM

Publication Date: 2023

Variant appearance in text: p53: R342P

PubMed Link: 37007070

Variant Present in the following documents:

• fonc-13-1133363.pdf

View BVdb publication page

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Circulating Tumor DNA Monitoring Reveals Molecular Progression before Radiologic Progression in a Real-life Cohort of Patients with Advanced Non-small Cell Lung Cancer.

Cancer Research Communications

Frank, Malene S MS; Andersen, Christina S A CSA; Ahlborn, Lise B LB; Pallisgaard, Niels N; Bodtger, Uffe U; Gehl, Julie J

Publication Date: 2022-10

Variant appearance in text: TP53: 1025G>C; R342P

PubMed Link: 36969747

Variant Present in the following documents:

• crc-22-0258-s07.pdf
• crc-22-0258-s09.xlsx, sheet 2
• crc-22-0258-s08.xlsx, sheet 1

View BVdb publication page

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Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine

Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW

Publication Date: 2023-03-16

Variant appearance in text: TP53: R342P

PubMed Link: 36928815

Variant Present in the following documents:

• 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5

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: 1025G>C; R342P; rs375338359

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 3

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: R342P

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.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: 1025G>C; Arg342Pro

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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Wilms tumor mutational subclasses converge to drive CCND2 overexpression.

Medrxiv : The Preprint Server For Health Sciences

Xu, Lin L; Desai, Kavita K; Kim, Jiwoong J; Zhou, Qinbo Q; Guo, Lei L; Xiao, Xue X; Zhang, Yanfeng Y; Zhou, Li L; Yuksel, Aysen A; Catchpoole, Daniel R DR; Amatruda, James F JF; Chen, Kenneth S KS

Publication Date: 2023-02-02

Variant appearance in text: TP53: 1025G>C; Arg342Pro

PubMed Link: 36778325

Variant Present in the following documents:

• media-4.xlsx, sheet 1

View BVdb publication page

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

Cancer Science

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

Publication Date: 2023-01-05

Variant appearance in text: TP53: 1025G>C; R342P

PubMed Link: 36601953

Variant Present in the following documents:

• CAS-114-1710-s001.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: TP53: 1025G>C; rs375338359

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: rs375338359

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 7

View BVdb publication page

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Integrated multi-omic analysis of low-grade ovarian serous carcinoma collected from short and long-term survivors.

Journal Of Translational Medicine

Wong, Kwong-Kwok KK; Bateman, Nicholas W NW; Ng, Chun Wai CW; Tsang, Yvonne T M YTM; Sun, Charlotte S CS; Celestino, Joseph J; Nguyen, Tri V TV; Malpica, Anais A; Hillman, R Tyler RT; Zhang, Jianhua J; Futreal, P Andrew PA; Rojas, Christine C; Conrads, Kelly A KA; Hood, Brian L BL; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Phippen, Neil T NT; Conrads, Thomas P TP; Maxwell, George L GL; Sood, Anil K AK; Gershenson, David M DM

Publication Date: 2022-12-17

Variant appearance in text: TP53: R342P

PubMed Link: 36528667

Variant Present in the following documents:

• Main text
• 12967_2022_Article_3820.pdf
• 12967_2022_3820_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.

Molecular Oncology

Nguyen Hoang, Van-Anh VA; Nguyen, Sao Trung ST; Nguyen, Trieu Vu TV; Pham, Thanh Huyen TH; Doan, Phuoc Loc PL; Nguyen Thi, Ngoc Thanh NT; Nguyen, Minh Long ML; Dinh, Thi Cuc TC; Pham, Dinh Hoang DH; Nguyen, Ngoc Mai NM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do, Thanh Thuy Thi TTT; Truong, Dinh Kiet DK; Phan, Minh-Duy MD; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN

Publication Date: 2022-12-10

Variant appearance in text: TP53: R342P

PubMed Link: 36495126

Variant Present in the following documents:

• MOL2-17-598-s002.xlsx, sheet 1

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: R342P

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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Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology

Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ

Publication Date: 2022-10-11

Variant appearance in text: TP53: 1025G>C; R342P

PubMed Link: 36219477

Variant Present in the following documents:

• PATH-259-56-s004.xlsx, sheet 2
• PATH-259-56-s006.xlsx, sheet 2

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: R342P

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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αβT- and B-cell-depleted HLA-haploidentical hematopoietic stem cell transplantation in children with myelodysplastic syndromes.

Haematologica

Merli, Pietro P; Pagliara, Daria D; Mina, Tommaso T; Bertaina, Valentina V; Li Pira, Giuseppina G; Lazzaro, Stefania S; Biagini, Simone S; Galaverna, Federica F; Strocchio, Luisa L; Carta, Roberto R; Catanoso, Maria Luigia ML; Quagliarella, Francesco F; Becilli, Marco M; Boccieri, Emilia E; Del Bufalo, Francesca F; Panigari, Arianna A; Agostini, Annalisa A; Pedace, Lucia L; Pizzi, Simone S; Perotti, Cesare C; Algeri, Mattia M; Zecca, Marco M; Locatelli, Franco F

Publication Date: 2022-12-01

Variant appearance in text: p53: R342P

PubMed Link: 36005558

Variant Present in the following documents:

• 2022_280698_MERLI_SUPPL.pdf

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: R342P

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

Molecular Oncology

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

Publication Date: 2022-10

Variant appearance in text: TP53: 1025G>C; R342P

PubMed Link: 35971249

Variant Present in the following documents:

• MOL2-16-3689-s005.xlsx, sheet 1
• MOL2-16-3689-s003.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: R342P

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: 782+3497G>C; R342P

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: R342P

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

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: TP53: 1025G>C; R342P

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

View BVdb publication page

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Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers.

Nature Communications

Shukla, N N; Levine, M F MF; Gundem, G G; Domenico, D D; Spitzer, B B; Bouvier, N N; Arango-Ossa, J E JE; Glodzik, D D; Medina-Martínez, J S JS; Bhanot, U U; Gutiérrez-Abril, J J; Zhou, Y Y; Fiala, E E; Stockfisch, E E; Li, S S; Rodriguez-Sanchez, M I MI; O'Donohue, T T; Cobbs, C C; Roehrl, M H A MHA; Benhamida, J J; Iglesias Cardenas, F F; Ortiz, M M; Kinnaman, M M; Roberts, S S; Ladanyi, M M; Modak, S S; Farouk-Sait, S S; Slotkin, E E; Karajannis, M A MA; Dela Cruz, F F; Glade Bender, J J; Zehir, A A; Viale, A A; Walsh, M F MF; Kung, A L AL; Papaemmanuil, E E

Publication Date: 2022-05-18

Variant appearance in text: TP53: 1025G>C; R342P

PubMed Link: 35585047

Variant Present in the following documents:

• 41467_2022_30233_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Proteogenomic characterization of 2002 human cancers reveals pan-cancer molecular subtypes and associated pathways.

Nature Communications

Zhang, Yiqun Y; Chen, Fengju F; Chandrashekar, Darshan S DS; Varambally, Sooryanarayana S; Creighton, Chad J CJ

Publication Date: 2022-05-13

Variant appearance in text: p53: R342P

PubMed Link: 35562349

Variant Present in the following documents:

• 41467_2022_30342_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Mutual exclusivity of ESR1 and TP53 mutations in endocrine resistant metastatic breast cancer.

Npj Breast Cancer

Li, Zheqi Z; Spoelstra, Nicole S NS; Sikora, Matthew J MJ; Sams, Sharon B SB; Elias, Anthony A; Richer, Jennifer K JK; Lee, Adrian V AV; Oesterreich, Steffi S

Publication Date: 2022-05-10

Variant appearance in text: TP53: R342P

PubMed Link: 35538119

Variant Present in the following documents:

• 41523_2022_426_MOESM1_ESM.pdf

View BVdb publication page

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Plasma Genotyping at the Time of Diagnostic Tissue Biopsy Decreases Time-to-Treatment in Patients With Advanced NSCLC-Results From a Prospective Pilot Study.

Jto Clinical And Research Reports

Thompson, Jeffrey C JC; Aggarwal, Charu C; Wong, Janeline J; Nimgaonkar, Vivek V; Hwang, Wei-Ting WT; Andronov, Michelle M; Dibardino, David M DM; Hutchinson, Christoph T CT; Ma, Kevin C KC; Lanfranco, Anthony A; Moon, Edmund E; Haas, Andrew R AR; Singh, Aditi P AP; Ciunci, Christine A CA; Marmarelis, Melina M; D'Avella, Christopher C; Cohen, Justine V JV; Bauml, Joshua M JM; Cohen, Roger B RB; Langer, Corey J CJ; Vachani, Anil A; Carpenter, Erica L EL

Publication Date: 2022-04

Variant appearance in text: TP53: R342P

PubMed Link: 35392653

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Identification of a Novel Oncogenic Fusion Gene SPON1-TRIM29 in Clinical Ovarian Cancer That Promotes Cell and Tumor Growth and Enhances Chemoresistance in A2780 Cells.

International Journal Of Molecular Sciences

Nagasawa, Saya S; Ikeda, Kazuhiro K; Shintani, Daisuke D; Yang, Chiujung C; Takeda, Satoru S; Hasegawa, Kosei K; Horie, Kuniko K; Inoue, Satoshi S

Publication Date: 2022-01-08

Variant appearance in text: p53: R342P

PubMed Link: 35054873

Variant Present in the following documents:

• ijms-23-00689.pdf

View BVdb publication page

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Identification of a Novel Oncogenic Fusion Gene SPON1-TRIM29 in Clinical Ovarian Cancer That Promotes Cell and Tumor Growth and Enhances Chemoresistance in A2780 Cells.

International Journal Of Molecular Sciences

Nagasawa, Saya S; Ikeda, Kazuhiro K; Shintani, Daisuke D; Yang, Chiujung C; Takeda, Satoru S; Hasegawa, Kosei K; Horie, Kuniko K; Inoue, Satoshi S

Publication Date: 2022-01-08

Variant appearance in text: p53: R342P

PubMed Link: 35054873

Variant Present in the following documents:

• ijms-23-00689.pdf

View BVdb publication page

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IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Acta Neuropathologica Communications

Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A

Publication Date: 2021-12-24

Variant appearance in text: TP53: 1025G>C; Arg342Pro; rs375338359

PubMed Link: 34952640

Variant Present in the following documents:

• 40478_2021_1304_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Acta Neuropathologica Communications

Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A

Publication Date: 2021-12-24

Variant appearance in text: TP53: 1025G>C; Arg342Pro; rs375338359

PubMed Link: 34952640

Variant Present in the following documents:

• 40478_2021_1304_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Multi-omic machine learning predictor of breast cancer therapy response.

Nature

Sammut, Stephen-John SJ; Crispin-Ortuzar, Mireia M; Chin, Suet-Feung SF; Provenzano, Elena E; Bardwell, Helen A HA; Ma, Wenxin W; Cope, Wei W; Dariush, Ali A; Dawson, Sarah-Jane SJ; Abraham, Jean E JE; Dunn, Janet J; Hiller, Louise L; Thomas, Jeremy J; Cameron, David A DA; Bartlett, John M S JMS; Hayward, Larry L; Pharoah, Paul D PD; Markowetz, Florian F; Rueda, Oscar M OM; Earl, Helena M HM; Caldas, Carlos C

Publication Date: 2022-01

Variant appearance in text: TP53: 1025G>C

PubMed Link: 34875674

Variant Present in the following documents:

• 41586_2021_4278_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Ovarian Cancer With Breast Metastasis and Two Pathogenic Variants of BRCA1 Gene.

Cureus

Kowsarnia, Saeedeh S; Javadi, Nader N

Publication Date: 2021-10

Variant appearance in text: TP53: 1025G>C; R342P

PubMed Link: 34790454

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis.

Jama Oncology

Kratz, Christian P CP; Freycon, Claire C; Maxwell, Kara N KN; Nichols, Kim E KE; Schiffman, Joshua D JD; Evans, D Gareth DG; Achatz, Maria I MI; Savage, Sharon A SA; Weitzel, Jeffrey N JN; Garber, Judy E JE; Hainaut, Pierre P; Malkin, David D

Publication Date: 2021-10-28

Variant appearance in text: TP53: R342P

PubMed Link: 34709361

Variant Present in the following documents:

• Main text

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Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis.

Jama Oncology

Kratz, Christian P CP; Freycon, Claire C; Maxwell, Kara N KN; Nichols, Kim E KE; Schiffman, Joshua D JD; Evans, D Gareth DG; Achatz, Maria I MI; Savage, Sharon A SA; Weitzel, Jeffrey N JN; Garber, Judy E JE; Hainaut, Pierre P; Malkin, David D

Publication Date: 2021-12-01

Variant appearance in text: TP53: R342P

PubMed Link: 34709361

Variant Present in the following documents:

• Main text

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TP53 in Acute Myeloid Leukemia: Molecular Aspects and Patterns of Mutation.

International Journal Of Molecular Sciences

George, Binsah B; Kantarjian, Hagop H; Baran, Natalia N; Krocker, Joseph Douglas JD; Rios, Adan A

Publication Date: 2021-10-05

Variant appearance in text: p53: R342P

PubMed Link: 34639121

Variant Present in the following documents:

• Main text
• ijms-22-10782.pdf

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Targeted Sequencing Revealed Distinct Mutational Profiles of Ocular and Extraocular Sebaceous Carcinomas.

Cancers

Na, Hee Young HY; Park, Jeong Hwan JH; Shin, Sun Ah SA; Lee, Sejoon S; Lee, Heonyi H; Chae, Heejoon H; Choung, HoKyung H; Kim, Namju N; Chung, Jin-Haeng JH; Kim, Ji Eun JE

Publication Date: 2021-09-26

Variant appearance in text: TP53: R342P

PubMed Link: 34638295

Variant Present in the following documents:

• Main text

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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: R342P

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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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: 1025G>C; R342P

PubMed Link: 34253785

Variant Present in the following documents:

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

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Profiling of 520 Candidate Genes in 50 Surgically Treated Chinese Small Cell Lung Cancer Patients.

Frontiers In Oncology

Yuan, Ting T; Wang, Xin X; Sun, Sijin S; Cao, Zheng Z; Feng, Xiaoli X; Gao, Yibo Y

Publication Date: 2021

Variant appearance in text: TP53: 1025G>C; Arg342Pro; rs375338359

PubMed Link: 34168983

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 3

View BVdb publication page

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CXCL10 potentiates immune checkpoint blockade therapy in homologous recombination-deficient tumors.

Theranostics

Shi, Zhiwen Z; Shen, Jianfeng J; Qiu, Junjun J; Zhao, Qingguo Q; Hua, Keqin K; Wang, Hongyan H

Publication Date: 2021

Variant appearance in text: TP53: 1025G>C; R342P

PubMed Link: 34158843

Variant Present in the following documents:

• thnov11p7175s3.xlsx, sheet 1

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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: R342P

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 31
• Table_1.xlsx, sheet 3

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: R342P

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 5
• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
• 41467_2021_22478_MOESM8_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: 1025G>C; R342P

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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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: 1025G>C; Arg342Pro; rs375338359

PubMed Link: 33568653

Variant Present in the following documents:

• 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Outcome and molecular analysis of young children with choroid plexus carcinoma treated with non-myeloablative therapy: results from the SJYC07 trial.

Neuro-Oncology Advances

Liu, Anthony P Y APY; Wu, Gang G; Orr, Brent A BA; Lin, Tong T; Ashford, Jason M JM; Bass, Johnnie K JK; Bowers, Daniel C DC; Hassall, Tim T; Fisher, Paul G PG; Indelicato, Daniel J DJ; Klimo, Paul P; Boop, Frederick F; Conklin, Heather H; Onar-Thomas, Arzu A; Merchant, Thomas E TE; Ellison, David W DW; Gajjar, Amar A; Robinson, Giles W GW

Publication Date: 2021

Variant appearance in text: TP53: R342P

PubMed Link: 33506206

Variant Present in the following documents:

• Main text
• vdaa168.pdf

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: TP53: R342P

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s003.xlsx, sheet 1
• CAM4-10-53-s004.xlsx, sheet 1

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: 1025G>C

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_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: 1025G>C

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_Article_672.pdf

View BVdb publication page

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Comprehensive bioinformatics analysis of the TP53 signaling pathway in Wilms' tumor.

Annals Of Translational Medicine

He, Changjing C; Qin, Huatao H; Tang, Haizhou H; Yang, Di D; Li, Yufeng Y; Huang, Zhenwen Z; Zhang, Donghu D; Lv, Changheng C

Publication Date: 2020-10

Variant appearance in text: TP53: R342P

PubMed Link: 33178760

Variant Present in the following documents:

• atm-08-19-1228.pdf

View BVdb publication page

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Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients.

Bmc Cancer

Kwong, Ava A; Shin, Vivian Yvonne VY; Ho, Cecilia Y S CYS; Au, Chun Hang CH; Slavin, Thomas P TP; Weitzel, Jeffrey N JN; Chan, Tsun-Leung TL; Ma, Edmond S K ESK

Publication Date: 2020-11-02

Variant appearance in text: TP53: 1025G>C

PubMed Link: 33138793

Variant Present in the following documents:

• Main text
• 12885_2020_Article_7476.pdf

View BVdb publication page

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p53 tetramerization: at the center of the dominant-negative effect of mutant p53.

Genes & Development

Gencel-Augusto, Jovanka J; Lozano, Guillermina G

Publication Date: 2020-09-01

Variant appearance in text: p53: R342P

PubMed Link: 32873579

Variant Present in the following documents:

• Main text
• 1128.pdf

View BVdb publication page

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Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications

Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG

Publication Date: 2020-07-30

Variant appearance in text: TP53: R342P

PubMed Link: 32732999

Variant Present in the following documents:

• 41467_2020_17659_MOESM3_ESM.xls, 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: R342P

PubMed Link: 32704382

Variant Present in the following documents:

• 41421_2020_177_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Intratumor heterogeneity of prognostic DNA-based molecular markers in adrenocortical carcinoma.

Endocrine Connections

Jouinot, Anne A; Lippert, Juliane J; Fassnacht, Martin M; de La Villeon, Bruno B; Septier, Amandine A; Neou, Mario M; Perlemoine, Karine K; Appenzeller, Silke S; Sibony, Mathilde M; Gaujoux, Sébastien S; Dousset, Bertrand B; Libe, Rossella R; Groussin, Lionel L; Ronchi, Cristina L CL; Assié, Guillaume G; Bertherat, Jérôme J

Publication Date: 2020-07

Variant appearance in text: TP53: R342P

PubMed Link: 32698135

Variant Present in the following documents:

• Main text

View BVdb publication page

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Detection of TP53 Clonal Variants in Papanicolaou Test Samples Collected up to 6 Years Prior to High-Grade Serous Epithelial Ovarian Cancer Diagnosis.

Jama Network Open

Paracchini, Lara L; Pesenti, Chiara C; Delle Marchette, Martina M; Beltrame, Luca L; Bianchi, Tommaso T; Grassi, Tommaso T; Buda, Alessandro A; Landoni, Fabio F; Ceppi, Lorenzo L; Bosetti, Cristina C; Paderno, Mariachiara M; Adorni, Marco M; Vicini, Debora D; Perego, Patrizia P; Leone, Biagio Eugenio BE; D'Incalci, Maurizio M; Marchini, Sergio S; Fruscio, Robert R

Publication Date: 2020-07-01

Variant appearance in text: TP53: 1025G>C; R342P

PubMed Link: 32609349

Variant Present in the following documents:

• Main text
• jamanetwopen-3-e207566-s001.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: R342P

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Transcriptional profiling reveals a subset of human breast tumors that retain wt TP53 but display mutant p53-associated features.

Molecular Oncology

Benor, Gal G; Fuks, Garold G; Chin, Suet-Feung SF; Rueda, Oscar M OM; Mukherjee, Saptaparna S; Arandkar, Sharathchandra S; Aylon, Yael Y; Caldas, Carlos C; Domany, Eytan E; Oren, Moshe M

Publication Date: 2020-08

Variant appearance in text: TP53: R342P

PubMed Link: 32484602

Variant Present in the following documents:

• MOL2-14-1640-s002.pdf

View BVdb publication page

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Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.

Geburtshilfe Und Frauenheilkunde

Wappenschmidt, Barbara B; Hauke, Jan J; Faust, Ulrike U; Niederacher, Dieter D; Wiesmüller, Lisa L; Schmidt, Gunnar G; Groß, Evi E; Gehrig, Andrea A; Sutter, Christian C; Ramser, Juliane J; Rump, Andreas A; Arnold, Norbert N; Meindl, Alfons A

Publication Date: 2020-04

Variant appearance in text: p53: Arg342Pro

PubMed Link: 32322110

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: TP53: R342P

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
• 41467_2020_15456_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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

Bmc Cancer

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

Publication Date: 2020-04-07

Variant appearance in text: TP53: 1025G>C; Arg342Pro

PubMed Link: 32264863

Variant Present in the following documents:

• 12885_2020_6785_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.

Esmo Open

De Falco, Vincenzo V; Poliero, Luca L; Vitello, Pietro Paolo PP; Ciardiello, Davide D; Vitale, Pasquale P; Zanaletti, Nicoletta N; Giunta, Emilio Francesco EF; Terminiello, Marinella M; Caputo, Vincenza V; Carlino, Francesca F; Di Liello, Raimondo R; Ventriglia, Anna A; Famiglietti, Vincenzo V; Martinelli, Erika E; Morgillo, Floriana F; Orditura, Michele M; De Vita, Ferdinando F; Fasano, Morena M; Napolitano, Stefania S; Martini, Giulia G; Della Corte, Carminia Maria CM; Franco, Renato R; Altucci, Lucia L; Ciardiello, Fortunato F; Troiani, Teresa T

Publication Date: 2020-03

Variant appearance in text: TP53: R342P

PubMed Link: 32234730

Variant Present in the following documents:

• esmoopen-2020-000675supp003.pdf

View BVdb publication page

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