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Comprehensive molecular and clinicopathological profiling of desmoid tumours.

European journal of cancer (Oxford, England : 1990) - 1 Mar 2021

Kohsaka Shinji, Hirata Makoto, Ikegami Masachika, Ueno Toshihide, Kojima Shinya, Sakai Tomohisa, Ito Kan, Naka Norifumi, Ogura Koichi, Kawai Akira, Iwata Shintaro, Okuma Tomotake, Yonemoto Tsukasa, Kobayashi Hiroshi, Suehara Yoshiyuki, Hiraga Hiroaki, Kawamoto Teruya, Motoi Toru, Oda Yoshinao, Matsubara Daisuke, Matsuda Koichi, Nishida Yoshihiro, Mano Hiroyuki

Abstract excerpt

Previous studies have not clearly identified a prognostic factor for desmoid tumours (DT). Whole-exome sequencing (WES) and/or RNA sequencing (RNA-seq) were performed in 64 cases of DT to investigate the molecular profiles in combination with the clinicopathological characteristics. CTNNB1 mutations with specific hotspots were identified in 56 cases (87.5%). A copy number loss in chromosome 6 (chr6) was...

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PMID: 33444924
DOI: 10.1016/j.ejca.2020.12.001

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