Article
Role of Tumor Mutation Burden Analysis in Detecting Lynch Syndrome in Precision Medicine: Analysis of 2,501 Japanese Cancer Patients.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology - 1 Jan 2021
Kiyozumi Yoshimi, Matsubayashi Hiroyuki, Higashigawa Satomi, Horiuchi Yasue, Kado Nobuhiro, Hirashima Yasuyuki, Shiomi Akio, Oishi Takuma, Ohnami Sumiko, Ohshima Keiichi, Urakami Kenichi, Nagashima Takeshi, Yamaguchi Ken
Abstract excerpt
BACKGROUND: Tumor mutation burden (TMB) is the total exonic mutation count per megabase of tumor DNA. Recent advances in precision medicine occasionally detect Lynch syndrome (LS) by germline sequencing for mismatch-repair (g.MMR) genes but not using TMB. The current study analyzes the utility of TMB in detecting LS. METHODS: Whole-exome sequencing (ion-semiconductor sequencing) was performed for somatic and...
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