n a recent paper published in Cancer Discovery, Keio University’s Sara Horie and her colleagues conducted an in-depth analysis of cancer driver alterations using genomic data from Japanese and international cohorts. The study elucidates the genomic landscape of Japanese patients and identifies significant genomic differences between Asian and white populations, providing valuable resources for cancer genomic medicine. These findings have important implications for appropriate patient selection in molecularly targeted therapies.
Background
The advent of next-generation sequencing (NGS) has transformed our understanding of cancer, enabling detailed analyses of genetic mutations driving cancer development. Large-scale genomic studies like The Cancer Genome Atlas (TCGA) and the AACR Project Genomics Evidence Neoplasia Information Exchange (GENIE) have been instrumental in identifying mutations that affect cancer progression. These efforts have been fundamental to the rise of precision medicine, which tailors treatment strategies to the unique genetic profile of each patient.
However, the majority of existing data primarily consist of white populations, with few studies focused on Asian populations. Horie and colleagues addressed this gap by analyzing cancer gene panel data from Japan’s Center for Cancer Genomics and Advanced Therapeutics (C-CAT), which, as of December 2023, has collected data from 67,630 patients.
Study focus and methodology
This study presents a pan-cancer clinico-genomic analysis of 48,627 Japanese patients registered in C-CAT between June 2019 and August 2023. It compares the patterns of driver mutations between the C-CAT cohort and white patients in the GENIE cohort. Additionally, C-CAT, GENIE, and TCGA datasets consisting of more than 100,000 patients were integrated to uncover numerous co-occurring and mutually exclusive relationships between driver mutations across various cancer types.
Key Findings
- Genomic landscape and clinical actionability of Japanese cancer patients
- Genetic differences between Asian and White populations
- Co-occurrence and mutual exclusivity of driver mutations

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