Publications:

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Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: EZH2: S229L

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3

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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: EZH2: S229L

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: EZH2: S229L

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Molecular Genetics & Genomic Medicine

Tran Mau-Them, Frederic F; Duffourd, Yannis Y; Vitobello, Antonio A; Bruel, Ange-Line AL; Denommé-Pichon, Anne-Sophie AS; Nambot, Sophie S; Delanne, Julian J; Moutton, Sebastien S; Sorlin, Arthur A; , ; Couturier, Victor V; Bourgeois, Valentin V; Chevarin, Martin M; Poe, Charlotte C; Mosca-Boidron, Anne-Laure AL; Callier, Patrick P; Safraou, Hana H; Faivre, Laurence L; Philippe, Christophe C; Thauvin-Robinet, Christel C

Publication Date: 2021-12

Variant appearance in text: EZH2: 686C>T; Ser229Leu

PubMed Link: 34716697

Variant Present in the following documents:

• MGG3-9-e1836-s002.xlsx, sheet 1

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Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Molecular Genetics & Genomic Medicine

Tran Mau-Them, Frederic F; Duffourd, Yannis Y; Vitobello, Antonio A; Bruel, Ange-Line AL; Denommé-Pichon, Anne-Sophie AS; Nambot, Sophie S; Delanne, Julian J; Moutton, Sebastien S; Sorlin, Arthur A; , ; Couturier, Victor V; Bourgeois, Valentin V; Chevarin, Martin M; Poe, Charlotte C; Mosca-Boidron, Anne-Laure AL; Callier, Patrick P; Safraou, Hana H; Faivre, Laurence L; Philippe, Christophe C; Thauvin-Robinet, Christel C

Publication Date: 2021-10-30

Variant appearance in text: EZH2: 686C>T; Ser229Leu

PubMed Link: 34716697

Variant Present in the following documents:

• MGG3-9-e1836-s002.xlsx, sheet 1

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: EZH2: 686C>T; S229L

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Epigenetic Enzyme Mutations: Role in Tumorigenesis and Molecular Inhibitors.

Frontiers In Oncology

Han, Mei M; Jia, Lina L; Lv, Wencai W; Wang, Lihui L; Cui, Wei W

Publication Date: 2019

Variant appearance in text: EZH2: S229L

PubMed Link: 30984620

Variant Present in the following documents:

• Main text
• fonc-09-00194.pdf

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EZH2 in Cancer Progression and Potential Application in Cancer Therapy: A Friend or Foe?

International Journal Of Molecular Sciences

Yan, Ke-Sin KS; Lin, Chia-Yuan CY; Liao, Tan-Wei TW; Peng, Cheng-Ming CM; Lee, Shou-Chun SC; Liu, Yi-Jui YJ; Chan, Wing P WP; Chou, Ruey-Hwang RH

Publication Date: 2017-05-31

Variant appearance in text: EZH2: S229L

PubMed Link: 28561778

Variant Present in the following documents:

• Main text
• ijms-18-01172.pdf

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: EZH2: 686C>T; S229L

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: EZH2: 686C>T; S229L

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: EZH2: 686C>T; S229L

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

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