Identification of novel mutations in Japanese ovarian clear cell carcinoma patients using optimized targeted NGS for clinical diagnosis

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• 作者：Yoshiaki Maru^a ; ^b ; Naotake Tanaka^c ; Miki Ohira^d ; Makiko Itami^e ; Yoshitaka Hippo^a ; Hiroki Nagase^b ; ^f ; ^{hnagase@chiba-cc.jp}
• 关键词：Somatic mutations ; Next-generation sequencing ; Clinical sequencing ; FFPE ; Ovarian clear cell carcinoma
• 刊名：Gynecologic Oncology
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：144
• 期：2
• 页码：377-383
• 全文大小：681 K
• 卷排序：144

文摘

45 OCCC somatic mutations (7 unpublished duplicated) in 34 genes were identified from 18 FFPE DNAs. We demonstrated an optimal FFPE DNA extraction method for the targeted NGS-based oncology panels. 7 genes (PIK3CA, ARID1A, CTNNB1, CSMD3, LPHN3, LRP1B, or TP53) were mutated in multiple OCCCs.