Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: CREBBP: Y1204F; rs200346970

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements.

Blood Advances

Frauenfeld, Leonie L; Castrejon-de-Anta, Natalia N; Ramis-Zaldivar, Joan Enric JE; Streich, Sebastian S; Salmerón-Villalobos, Julia J; Otto, Franziska F; Mayer, Annika Katharina AK; Steinhilber, Julia J; Pinyol, Magda M; Mankel, Barbara B; Ramsower, Colleen C; Bonzheim, Irina I; Fend, Falko F; Rimsza, Lisa M LM; Salaverria, Itziar I; Campo, Elias E; Balagué, Olga O; Quintanilla-Martinez, Leticia L

Publication Date: 2022-04-12

Variant appearance in text: CREBBP: Y1204F

PubMed Link: 34654055

Variant Present in the following documents:

• advancesADV2021006034-suppl1.pdf

View BVdb publication page

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Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology

Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A

Publication Date: 2022-02

Variant appearance in text: rs200346970

PubMed Link: 34494161

Variant Present in the following documents:

• 428_2021_3186_MOESM21_ESM.xlsx, sheet 1
• 428_2021_3186_MOESM22_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs200346970

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 6

View BVdb publication page

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High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.

Leukemia

Pillonel, V V; Juskevicius, D D; Ng, C K Y CKY; Bodmer, A A; Zettl, A A; Jucker, D D; Dirnhofer, S S; Tzankov, A A

Publication Date: 2018-11

Variant appearance in text: CREBBP: 3611A>T; Tyr1204Phe

PubMed Link: 29556019

Variant Present in the following documents:

• 41375_2018_82_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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CREBBP is a target of epigenetic, but not genetic, modification in juvenile myelomonocytic leukemia.

Clinical Epigenetics

Fluhr, Silvia S; Boerries, Melanie M; Busch, Hauke H; Symeonidi, Aikaterini A; Witte, Tania T; Lipka, Daniel B DB; Mücke, Oliver O; Nöllke, Peter P; Krombholz, Christopher Felix CF; Niemeyer, Charlotte M CM; Plass, Christoph C; Flotho, Christian C

Publication Date: 2016

Variant appearance in text: CREBBP: Y1204F; rs200346970

PubMed Link: 27158276

Variant Present in the following documents:

• 13148_2016_216_MOESM1_ESM.pdf

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: CREBBP: Y1204F; rs200346970

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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