11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood.

doi:10.1002/cncr.32907

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Article

11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood.

Cancer - 1 Jul 2020

Fiala Elise M, Ortiz Michael V, Kennedy Jennifer A, Glodzik Dominik, Fleischut Megan Harlan, Duffy Kelly A, Hathaway Evan R, Heaton Todd, Gerstle Justin T, Steinherz Peter, Shukla Neerav, McNeer Nicole, Tkachuk Kaitlyn, Bouvier Nancy, Cadoo Karen, Carlo Maria I, Latham Alicia, Dubard Gault Marianne, Joseph Vijai, Kemel Yelena, Kentsis Alex, Stadler Zsofia, La Quaglia Michael, Papaemmanuil Elli, Friedman Danielle, Ganguly Arupa, Kung Andrew, Offit Kenneth, Kalish Jennifer M, Walsh Michael F

Abstract excerpt

BACKGROUND: Constitutional or somatic mosaic epimutations are increasingly recognized as a mechanism of gene dysregulation resulting in cancer susceptibility. Beckwith-Wiedemann syndrome is the cancer predisposition syndrome most commonly associated with epimutation and is extremely variable in its phenotypic presentation, which can include isolated tumors. Because to the authors' knowledge large-scale germline...

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Identifiers

PMID: 32320050
DOI: 10.1002/cncr.32907
PMCID: PMC7383476

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