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The Desmoid Tumor Research Foundation

July 2015

Near universal detection of alterations in CTNNB1 and Wnt pathway regulators in desmoid-type fibromatosis by whole-exome sequencing and genomic analysis.

Author Information

Aimee M Crago,Caitlin Byrne,Deborah Kuk,Fatima G Wilder,Juliann Chmielecki,Katherine Thorn,Li-Xuan Qin,Mara Rosenberg,Matthew Meyerson,Meera Hameed,Nicholas D Socci,Phaedra Agius,Rachael O'Connor,Samuel Singer

Bioinformatics Core, Memorial Sloan Kettering Cancer Center, New York, NY.,Biostatistics and Epidemiology, Memorial Sloan Kettering Cancer Center, New York, NY.,Cancer Program, Broad Institute of Harvard and MIT, Cambridge, MA.,Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.,Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY.,Sarcoma Biology Laboratory and Sarcoma Disease Management Program, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY.

Publication

Summary

CTNNB1 mutations or APC abnormalities have been observed in ∼85% of desmoids examined by Sanger sequencing and are associated with Wnt/β-catenin activation. We sought to identify molecular aberrations in "wild-type" tumors (those without CTNNB1 or APC alteration) and to determine their prognostic relevance.

View Abstract