Publications:

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Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.

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

Vasudev, Naveen S NS; Scelo, Ghislaine G; Glennon, Kate I KI; Wilson, Michelle M; Letourneau, Louis L; Eveleigh, Robert R; Nourbehesht, Nazanin N; Arseneault, Madeleine M; Paccard, Antoine A; Egevad, Lars L; Viksna, Juris J; Celms, Edgars E; Jackson, Sharon M SM; Abedi-Ardekani, Behnoush B; Warren, Anne Y AY; Selby, Peter J PJ; Trainor, Sebastian S; Kimuli, Michael M; Cartledge, Jon J; Soomro, Naeem N; Adeyoju, Adebanji A; Patel, Poulam M PM; Wozniak, Magdalena B MB; Holcatova, Ivana I; Brisuda, Antonin A; Janout, Vladimir V; Chanudet, Estelle E; Zaridze, David D; Moukeria, Anush A; Shangina, Oxana O; Foretova, Lenka L; Navratilova, Marie M; Mates, Dana D; Jinga, Viorel V; Bogdanovic, Ljiljana L; Kovacevic, Bozidar B; Cambon-Thomsen, Anne A; Bourque, Guillaume G; Brazma, Alvis A; Tost, Jörg J; Brennan, Paul P; Lathrop, Mark M; Riazalhosseini, Yasser Y; Banks, Rosamonde E RE

Publication Date: 2023-02-23

Variant appearance in text: ATM: 8631G>C; Leu2877Phe

PubMed Link: 36815791

Variant Present in the following documents:

• ccr-22-1936_supplementary_table_s2_suppts2.xlsx, sheet 1

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The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications

Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM

Publication Date: 2022-06-29

Variant appearance in text: ATM: 8631G>C; Leu2877Phe

PubMed Link: 35768438

Variant Present in the following documents:

• 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1

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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: ATM: 8631G>C; L2877F

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

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Pharmaco-proteogenomic profiling of pediatric diffuse midline glioma to inform future treatment strategies.

Oncogene

Findlay, Izac J IJ; De Iuliis, Geoffry N GN; Duchatel, Ryan J RJ; Jackson, Evangeline R ER; Vitanza, Nicholas A NA; Cain, Jason E JE; Waszak, Sebastian M SM; Dun, Matthew D MD

Publication Date: 2021-11-10

Variant appearance in text: ATM: L2877F

PubMed Link: 34759345

Variant Present in the following documents:

• Main text
• 41388_2021_Article_2102.pdf

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Pharmaco-proteogenomic profiling of pediatric diffuse midline glioma to inform future treatment strategies.

Oncogene

Findlay, Izac J IJ; De Iuliis, Geoffry N GN; Duchatel, Ryan J RJ; Jackson, Evangeline R ER; Vitanza, Nicholas A NA; Cain, Jason E JE; Waszak, Sebastian M SM; Dun, Matthew D MD

Publication Date: 2022-01

Variant appearance in text: ATM: L2877F

PubMed Link: 34759345

Variant Present in the following documents:

• Main text
• 41388_2021_Article_2102.pdf

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: ATM: 8631G>C; L2877F

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

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Integrated Whole-Exome and Transcriptome Sequencing of Sporadic Parathyroid Adenoma.

Frontiers In Endocrinology

Hu, Ya Y; Zhang, Xiang X; Wang, Ou O; Cui, Ming M; Li, Xiaobin X; Wang, Mengyi M; Hua, Surong S; Liao, Quan Q

Publication Date: 2021

Variant appearance in text: ATM: L2877F

PubMed Link: 34054720

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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Clonal evolution in chronic lymphocytic leukemia is scant in relapsed but accelerated in refractory cases after chemo(immune) therapy.

Haematologica

Zapatka, Marc M; Tausch, Eugen E; Öztürk, Selcen S; Yosifov, Deyan Yordanov DY; Seiffert, Martina M; Zenz, Thorsten T; Schneider, Christof C; Blöhdorn, Johannes J; Döhner, Hartmut H; Mertens, Daniel D; Lichter, Peter P; Stilgenbauer, Stephan S

Publication Date: 2022-03-01

Variant appearance in text: ATM: L2877F

PubMed Link: 33691380

Variant Present in the following documents:

• 2020_265777_ZAPATKA_TABS4.xlsx, sheet 1

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Global activation of oncogenic pathways underlies therapy resistance in diffuse midline glioma.

Acta Neuropathologica Communications

Georgescu, M-M MM; Islam, M Z MZ; Li, Y Y; Circu, M L ML; Traylor, J J; Notarianni, C M CM; Kline, C N CN; Burns, D K DK

Publication Date: 2020-07-17

Variant appearance in text: ATM: L2877F

PubMed Link: 32680567

Variant Present in the following documents:

• Main text

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: ATM: L2877F

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

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Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.

Theranostics

Vikova, Veronika V; Jourdan, Michel M; Robert, Nicolas N; Requirand, Guilhem G; Boireau, Stéphanie S; Bruyer, Angélique A; Vincent, Laure L; Cartron, Guillaume G; Klein, Bernard B; Elemento, Olivier O; Kassambara, Alboukadel A; Moreaux, Jérôme J

Publication Date: 2019

Variant appearance in text: ATM: L2877F

PubMed Link: 30809292

Variant Present in the following documents:

• thnov09p0540s1.pdf

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Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer

Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L

Publication Date: 2019-02-01

Variant appearance in text: ATM: 8631G>C; L2877F

PubMed Link: 30709382

Variant Present in the following documents:

• 12885_2019_5313_MOESM2_ESM.xlsx, sheet 1
• 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: ATM: L2877F

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

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Comparison of intramedullary myeloma and corresponding extramedullary soft tissue plasmacytomas using genetic mutational panel analyses.

Blood Cancer Journal

de Haart, S J SJ; Willems, S M SM; Mutis, T T; Koudijs, M J MJ; van Blokland, M T MT; Lokhorst, H M HM; de Weger, R A RA; Minnema, M C MC

Publication Date: 2016-05-20

Variant appearance in text: ATM: L2877F

PubMed Link: 27206246

Variant Present in the following documents:

• Main text
• bcj201635a.pdf

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Integrated genomic sequencing reveals mutational landscape of T-cell prolymphocytic leukemia.

Blood

Kiel, Mark J MJ; Velusamy, Thirunavukkarasu T; Rolland, Delphine D; Sahasrabuddhe, Anagh A AA; Chung, Fuzon F; Bailey, Nathanael G NG; Schrader, Alexandra A; Li, Bo B; Li, Jun Z JZ; Ozel, Ayse B AB; Betz, Bryan L BL; Miranda, Roberto N RN; Medeiros, L Jeffrey LJ; Zhao, Lili L; Herling, Marco M; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KS

Publication Date: 2014-08-28

Variant appearance in text: ATM: L2877F

PubMed Link: 24825865

Variant Present in the following documents:

• Main text

View BVdb publication page

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