Targeted next-generation sequencing of 50 cancer-related genes in Japanese patients with oral squamous cell carcinoma

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine
Takafumi NakagakiYasushi Sasaki

Abstract

Somatic mutation analysis is a standard of practice for human cancers to identify therapeutic sensitization and resistance mutations. We performed a multigene sequencing screen to explore mutational hotspots in cancer-related genes using a semiconductor-based sequencer. DNA from oral squamous cell carcinoma samples was used as a template to amplify 207 regions from 50 cancer-related genes. Of the 80 oral squamous cell carcinoma specimens from Japanese patients, including formalin-fixed paraffin-embedded samples, 56 specimens presented at least one somatic mutation among the 50 investigated genes, and 17 of these samples showed multiple gene somatic mutations. TP53 was the most commonly mutated gene (50.0%), followed by CDKN2A (16.3%), PIK3CA (7.5%), HRAS (5.0%), MET (2.5%), and STK11 (2.5%). In total, 32 cases (40.0%) were human papillomavirus positive and they were significantly less likely to have a TP53, mutation than human papillomavirus-negative oral squamous cell carcinomas (8/32, 25.0% vs 32/48, 66.7%, p = 0.00026). We also detected copy number variations, in which segments of the genome could be duplicated or deleted from the sequencing data. We detected the tumor-specific TP53 mutation in the plasma cell-free DNA from ...Continue Reading

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Citations

Apr 12, 2019·Cells·Fiona H TanCharbel Darido
Dec 18, 2019·Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology·Chinchu JayaprakashKapaettu Satyamoorthy
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Sep 29, 2019·International Cancer Conference Journal·Tetsuya ShindoNaoya Masumori
Sep 22, 2020·Gynecologic Oncology·Yuya YoshimotoTakashi Nakano
Mar 7, 2021·Critical Reviews in Oncology/hematology·Adriana Castelo de MouraEliete Neves Silva Guerra
Jun 18, 2021·Frontiers in Oncology·Krishna PatelAditi Chatterjee
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Sep 23, 2019·Seminars in Cancer Biology·Annie Wai Yeeng ChaiSok Ching Cheong
Sep 17, 2020·Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology·Yoshifumi TakeiKazuyoshi Yanagihara
Mar 23, 2021··Elza Ibrahim Auerkari, Muhammad Garry Syahrizal Hanafi

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Methods Mentioned

BETA
PCR
genotyping

Software Mentioned

Ion AmpliSeq Cancer Hotspot Panel
Ion Torrent

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