Publications:

Amplification of CDK4 and MDM2: a detailed study of a high-risk neuroblastoma subgroup.

Scientific Reports

Martinez-Monleon, Angela A; Kryh Öberg, Hanna H; Gaarder, Jennie J; Berbegall, Ana P AP; Javanmardi, Niloufar N; Djos, Anna A; Ussowicz, Marek M; Taschner-Mandl, Sabine S; Ambros, Inge M IM; Øra, Ingrid I; Sandstedt, Bengt B; Beiske, Klaus K; Ladenstein, Ruth R; Noguera, Rosa R; Ambros, Peter F PF; Gordon Murkes, Lena L; Ljungman, Gustaf G; Kogner, Per P; Fransson, Susanne S; Martinsson, Tommy T

Publication Date: 2022-07-20

Variant appearance in text: TET2: 413A>T; Q138L

PubMed Link: 35859155

Variant Present in the following documents:

• 41598_2022_16455_MOESM2_ESM.xlsx, sheet 4

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TERT promoter mutation and chromosome 6 loss define a high-risk subtype of ependymoma evolving from posterior fossa subependymoma.

Acta Neuropathologica

Thomas, Christian C; Thierfelder, Felix F; Träger, Malte M; Soschinski, Patrick P; Müther, Michael M; Edelmann, Dominic D; Förster, Alexandra A; Geiler, Carola C; Kim, Hee-Yeong HY; Filipski, Katharina K; Harter, Patrick N PN; Schittenhelm, Jens J; Eckert, Franziska F; Ntoulias, Georgios G; May, Sven-Axel SA; Stummer, Walter W; Onken, Julia J; Vajkoczy, Peter P; Schüller, Ulrich U; Heppner, Frank L FL; Capper, David D; Koch, Arend A; Kaul, David D; Paulus, Werner W; Hasselblatt, Martin M; Schweizer, Leonille L

Publication Date: 2021-06

Variant appearance in text: TET2: Q138L

PubMed Link: 33755803

Variant Present in the following documents:

• 401_2021_2300_MOESM3_ESM.xlsx, sheet 1

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TET2 missense variants in human neoplasia. A proposal of structural and functional classification.

Molecular Genetics & Genomic Medicine

Bussaglia, Elena E; Antón, Rosa R; Nomdedéu, Josep F JF; Fuentes-Prior, Pablo P

Publication Date: 2019-07

Variant appearance in text: TET2: 413A>T; Gln138Leu; rs138203452

PubMed Link: 31187595

Variant Present in the following documents:

View BVdb publication page

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: TET2: 413A>T; Gln138Leu; rs138203452

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 6

View BVdb publication page