Article
Next-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses.
Virchows Archiv : an international journal of pathology - 1 Aug 2015
Aitken Sarah J, Presneau Nadège, Kalimuthu Sangeetha, Dileo Palma, Berisha Fitim, Tirabosco Roberto, Amary M Fernanda, Flanagan Adrienne M
Abstract excerpt
Desmoid-type fibromatoses are locally aggressive and frequently recurrent tumours, and an accurate diagnosis is essential for patient management. The majority of sporadic lesions harbour beta-catenin (CTNNB1) mutations. We used next-generation sequencing to detect CTNNB1 mutations and to compare the sensitivity and specificity of next-generation sequencing with currently employed mutation detection techniques:...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.