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| Status |
Public on Jan 11, 2018 |
| Title |
Beta-catenin in Desmoid Tumors: the role of T41A and S45F mutations on gene expression |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
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.
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| Overall design |
We selected for this study 33 primary DTs surgically treated at our Institution. All samples had these characteristics: 1) DT diagnosis by an expert pathologist (SP); 2) known CTNNB1 mutational status assessed by direct sequencing as previously described (Colombo et al. Cancer 119; 3696–3702, 2013); 3) availability of the formalin fixed paraffin embedded (FFPE) surgical specimen; 4) availability of RNA amount and quality adequate for molecular analysis. The distribution of mutations was T41A (14 cases), S45F (10 cases), and wt (9 cases).
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| Contributor(s) |
De Cecco L, Colombo C |
| Citation(s) |
28627792 |
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| Submission date |
Jan 10, 2018 |
| Last update date |
Jan 24, 2018 |
| Contact name |
Loris De Cecco |
| E-mail(s) |
[email protected]
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| Organization name |
IRCSS Istituto Nazionale Tumori
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| Street address |
via Venezian 1
|
| City |
Milan |
| ZIP/Postal code |
20133 |
| Country |
Italy |
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| Platforms (1) |
| GPL14951 |
Illumina HumanHT-12 WG-DASL V4.0 R2 expression beadchip |
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| Samples (33)
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| Relations |
| BioProject |
PRJNA429452 |
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