Beta-catenin in Desmoid Tumors: the role of T41A and S45F mutations on gene expression

ABSTRACT: Desmoids tumors (DTs) are rare mesenchymal infiltrative lesions that exhibit high risk of local recurrence despite surgery with negative margins. Mutations in CTNNB1 gene encoding for β-catenin are typically carried by most sporadic DTs but the evidences in support to the clinical/biological role of these mutations are contrasting. Our work is the first study specifically investigating if mutation type could influence the stability of the β-catenin structure, its affinity for α-catenin, as well as the pattern of gene expression and could in turn guide the behavior of the disease.

ORGANISM(S): Homo sapiens

PROVIDER: GSE109023 | GEO | 2018/01/11

SECONDARY ACCESSION(S): PRJNA429452

REPOSITORIES: GEO