Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia

Somatic mutations affecting ETV6 often occur in acute lymphoblastic leukemia (ALL), the most common childhood malignancy. The genetic factors that predispose to ALL remain poorly understood. Here we identify a novel germline ETV6 p. L349P mutation in a kindred affected by thrombocytopenia and ALL. A...

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Bibliographic Details
Main Authors: Topka, Sabine, Vijai, Joseph, Walsh, Michael F., Jacobs, Lauren, Maria, Ann, Villano, Danylo, Gaddam, Pragna, Wu, Gang, McGee, Rose B., Quinn, Emily, Inaba, Hiroto, Hartford, Christine, Pui, Ching-hon, Pappo, Alberto, Edmonson, Michael, Zhang, Michael Y., Stepensky, Polina, Steinherz, Peter, Schrader, Kasmintan, Lincoln, Anne, Bussel, James, Lipkin, Steve M., Goldgur, Yehuda, Harit, Mira, Stadler, Zsofia K., Mullighan, Charles, Weintraub, Michael, Shimamura, Akiko, Zhang, Jinghui, Downing, James R., Nichols, Kim E., Offit, Kenneth
Format: Online
Language:English
Published: Public Library of Science 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4477877/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4477877/

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