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Association details:
Evidence:
Evidence Level:
Sensitive: C4 – Case Studies
New
Title:

"Genomic Profiling Identified ERCC2 E606Q Mutation in Helicase Domain Respond to Platinum-Based Neoadjuvant Therapy in Urothelial Bladder Cancer Yosuke Hirotsu1*†‡, Hitoshi Yokoyama2‡, Kenji Amemiya1, Takashi Hagimoto2, Kyoko Hosaka2, Toshio Oyama3, Hitoshi Mochizuki1,4 and Masao Omata1,4,5 1Genome Analysis Center, Yamanashi Central Hospital, Kofu, Japan 2Department of Urology, Yamanashi Central Hospital, Kofu, Japan 3Department of Pathology, Yamanashi Central Hospital, Kofu, Japan 4Department of Gastroenterology, Yamanashi Central Hospital, Kofu, Japan 5The University of Tokyo, Bunkyo-ku, Japan Genomic profiling of tumors enables therapeutic decisions, and identifying drug-matched mutations will prolong survival and prognosis. Here, we generated a custom panel for detecting genetic alterations in 19 patients with urothelial bladder cancer. This panel targeted 71 genes associated with urological cancer. Targeted sequencing was performed on formalin-fixed paraffin-embedded tumor tissues

Excerpt:
The patient (Case #19) was diagnosed with MIBC...also harbored ERCC2 p.E606Q...The patient received neoadjuvant chemotherapy with cisplatin and gemcitabine...we observed tumor and lymph node were remarkably shrunk by CT examination.
DOI:
10.3389/fonc.2020.01643