Identification of novel mutations in Japanese ovarian clear cell carcinoma patients...

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

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45 OCCC somatic mutations (7 unpublished duplicated) in 34 genes were identified from 18 FFPE DNAs.

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We demonstrated an optimal FFPE DNA extraction method for the targeted NGS-based oncology panels.

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7 genes (PIK3CA, ARID1A, CTNNB1, CSMD3, LPHN3, LRP1B, or TP53) were mutated in multiple OCCCs.

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Objective

Ovarian clear cell carcinoma (OCCC) is an aggressive ovarian cancer with a higher frequency in Japan and often becomes chemorefractory disease.....