Article
Near universal detection of alterations in CTNNB1 and Wnt pathway regulators in desmoid-type fibromatosis by whole-exome sequencing and genomic analysis.
Genes, chromosomes & cancer - 1 Oct 2015
Crago Aimee M, Chmielecki Juliann, Rosenberg Mara, O'Connor Rachael, Byrne Caitlin, Wilder Fatima G, Thorn Katherine, Agius Phaedra, Kuk Deborah, Socci Nicholas D, Qin Li-Xuan, Meyerson Matthew, Hameed Meera, Singer Samuel
Abstract excerpt
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. CTNNB1 was examined by Sanger sequencing in 117 desmoids; a mutation was observed in 101 (86%) and 16 were...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.