Publications:

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Dual NGS Comparative Analysis of Liquid Biopsy (LB) and Formalin-Fixed Paraffin-Embedded (FFPE) Samples of Non-Small Cell Lung Carcinoma (NSCLC).

Cancers

Buburuzan, Laura L; Zamfir Irofei, Maria-Anca MA; Ardeleanu, Carmen Maria CM; Muresan, Alin Horatiu AH; Vasilescu, Florina F; Hudita, Ariana A; Costache, Marieta M; Galateanu, Bianca B; Puscasu, Alexandra A; Filippi, Alexandru A; Motas, Natalia N

Publication Date: 2022-12-10

Variant appearance in text: TP53: R248C

PubMed Link: 36551569

Variant Present in the following documents:

• cancers-14-06084.pdf

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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: R248C

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Cancer genomic profiling identified dihydropyrimidine dehydrogenase deficiency in bladder cancer promotes sensitivity to gemcitabine.

Scientific Reports

Tsukahara, Shigehiro S; Shiota, Masaki M; Takamatsu, Dai D; Nagakawa, Shohei S; Matsumoto, Takashi T; Kiyokoba, Ryo R; Yagi, Mikako M; Setoyama, Daiki D; Noda, Nozomi N; Matsumoto, Shinya S; Hayashi, Tetsutaro T; Contreras-Sanz, Alberto A; Black, Peter C PC; Inokuchi, Junichi J; Kohashi, Kenichi K; Oda, Yoshinao Y; Uchiumi, Takeshi T; Eto, Masatoshi M; Kang, Dongchon D

Publication Date: 2022-05-20

Variant appearance in text: TP53: Arg248Cys

PubMed Link: 35595780

Variant Present in the following documents:

• 41598_2022_12528_MOESM2_ESM.pdf

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CancerVar: An artificial intelligence-empowered platform for clinical interpretation of somatic mutations in cancer.

Science Advances

Li, Quan Q; Ren, Zilin Z; Cao, Kajia K; Li, Marilyn M MM; Wang, Kai K; Zhou, Yunyun Y

Publication Date: 2022-05-06

Variant appearance in text: TP53: R248C

PubMed Link: 35544644

Variant Present in the following documents:

• sciadv.abj1624.pdf

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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: R248C

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

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The Warburg effect as a therapeutic target for bladder cancers and intratumoral heterogeneity in associated molecular targets.

Cancer Science

Burns, Julie E JE; Hurst, Carolyn D CD; Knowles, Margaret A MA; Phillips, Roger M RM; Allison, Simon J SJ

Publication Date: 2021-09

Variant appearance in text: TP53: R248C

PubMed Link: 34181805

Variant Present in the following documents:

• CAS-112-3822-s004.xlsx, sheet 1

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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: R248C

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_Article_20162.pdf

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Integrated digital pathology and transcriptome analysis identifies molecular mediators of T-cell exclusion in ovarian cancer.

Nature Communications

Desbois, Mélanie M; Udyavar, Akshata R AR; Ryner, Lisa L; Kozlowski, Cleopatra C; Guan, Yinghui Y; Dürrbaum, Milena M; Lu, Shan S; Fortin, Jean-Philippe JP; Koeppen, Hartmut H; Ziai, James J; Chang, Ching-Wei CW; Keerthivasan, Shilpa S; Plante, Marie M; Bourgon, Richard R; Bais, Carlos C; Hegde, Priti P; Daemen, Anneleen A; Turley, Shannon S; Wang, Yulei Y

Publication Date: 2020-11-04

Variant appearance in text: TP53: Arg248Cys

PubMed Link: 33149148

Variant Present in the following documents:

• 41467_2020_19408_MOESM8_ESM.xlsx, sheet 10

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Incidence and distribution of UroSEEK gene panel in a multi-institutional cohort of bladder urothelial carcinoma.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Eich, Marie-Lisa ML; Rodriguez Pena, Maria Del Carmen MDC; Springer, Simeon U SU; Taheri, Diana D; Tregnago, Aline C AC; Salles, Daniela C DC; Bezerra, Stephania Martins SM; Cunha, Isabela W IW; Fujita, Kazutoshi K; Ertoy, Dilek D; Bivalacqua, Trinity J TJ; Tomasetti, Cristian C; Papadopoulos, Nickolas N; Kinzler, Ken W KW; Vogelstein, Bert B; Netto, George J GJ

Publication Date: 2019-10

Variant appearance in text: TP53: R248C

PubMed Link: 31028363

Variant Present in the following documents:

• NIHMS1525315-supplement-2.xlsx, sheet 1

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Tracking evolution of aromatase inhibitor resistance with circulating tumour DNA analysis in metastatic breast cancer.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology

Fribbens, C C; Garcia Murillas, I I; Beaney, M M; Hrebien, S S; O'Leary, B B; Kilburn, L L; Howarth, K K; Epstein, M M; Green, E E; Rosenfeld, N N; Ring, A A; Johnston, S S; Turner, N N

Publication Date: 2018-01-01

Variant appearance in text: TP53: R248C

PubMed Link: 29045530

Variant Present in the following documents:

• Main text

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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: R248C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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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: R248C

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

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UV and melanoma: the TP53 link.

Cell Research

Choi, Yeon Sook YS; Fisher, David E DE

Publication Date: 2014-10

Variant appearance in text: p53: R248C

PubMed Link: 25033756

Variant Present in the following documents:

• Main text

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Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.

Nature Medicine

Van Allen, Eliezer M EM; Wagle, Nikhil N; Stojanov, Petar P; Perrin, Danielle L DL; Cibulskis, Kristian K; Marlow, Sara S; Jane-Valbuena, Judit J; Friedrich, Dennis C DC; Kryukov, Gregory G; Carter, Scott L SL; McKenna, Aaron A; Sivachenko, Andrey A; Rosenberg, Mara M; Kiezun, Adam A; Voet, Douglas D; Lawrence, Michael M; Lichtenstein, Lee T LT; Gentry, Jeff G JG; Huang, Franklin W FW; Fostel, Jennifer J; Farlow, Deborah D; Barbie, David D; Gandhi, Leena L; Lander, Eric S ES; Gray, Stacy W SW; Joffe, Steven S; Janne, Pasi P; Garber, Judy J; MacConaill, Laura L; Lindeman, Neal N; Rollins, Barrett B; Kantoff, Philip P; Fisher, Sheila A SA; Gabriel, Stacey S; Getz, Gad G; Garraway, Levi A LA

Publication Date: 2014-06

Variant appearance in text: p53: R248C

PubMed Link: 24836576

Variant Present in the following documents:

• NIHMS531666-supplement-10.xlsx, sheet 1

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Frequent inactivating mutations of STAG2 in bladder cancer are associated with low tumour grade and stage and inversely related to chromosomal copy number changes.

Human Molecular Genetics

Taylor, Claire F CF; Platt, Fiona M FM; Hurst, Carolyn D CD; Thygesen, Helene H HH; Knowles, Margaret A MA

Publication Date: 2014-04-15

Variant appearance in text: TP53: R248C

PubMed Link: 24270882

Variant Present in the following documents:

• supp_ddt589_ddt589supp_table1.pdf

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A rapid, sensitive, reproducible and cost-effective method for mutation profiling of colon cancer and metastatic lymph nodes.

Bmc Cancer

Fumagalli, Debora D; Gavin, Patrick G PG; Taniyama, Yusuke Y; Kim, Seung-Il SI; Choi, Hyun-Joo HJ; Paik, Soonmyung S; Pogue-Geile, Katherine L KL

Publication Date: 2010-03-16

Variant appearance in text: p53: R248C

PubMed Link: 20233444

Variant Present in the following documents:

• 1471-2407-10-101.pdf

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