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CHEK2 is one of the most frequently detected moderate-risk genes in multigene panel testing for cancer; however, its clinical utility remains limited, particularly outside of European populations. Especially, while previous studies have reported associations between CHEK2 germline pathogenic variants (GPVs) and various cancers such as colorectal, prostate, renal, and thyroid, the evidence remains inconsistent. To address this gap and explore how to utilize data on CHEK2 in clinical practice, particularly in Japan, we recently reported a large-scale case-control study in Japan using genome sequencing data from 112,141 individuals and functional analysis. We found significant associations between CHEK2 GPVs and both female breast cancer (OR = 1.8, P = 1.2 × 10−3) and prostate cancer (OR = 1.8, P = 1.7 × 10−3). No significant differences were observed in age at diagnosis, tumor aggressiveness, or overall survival between GPV carriers and non-carriers. These findings suggest that CHEK2 contributes similarly to cancer risk in Japanese and European populations. Our results are essential to support clinical decision-making and define appropriate management of CHEK2 carriers in Japan.

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Translating Moderate-Risk Gene Data into Clinical Practice: Focus on CHEK2 Germline Pathogenic Variants

  • 章节

  • 发表日期：

    2026年

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  • Yuri Takehara,
  • Yukihide Momozawa

摘要

CHEK2 is one of the most frequently detected moderate-risk genes in multigene panel testing for cancer; however, its clinical utility remains limited, particularly outside of European populations. Especially, while previous studies have reported associations between CHEK2 germline pathogenic variants (GPVs) and various cancers such as colorectal, prostate, renal, and thyroid, the evidence remains inconsistent. To address this gap and explore how to utilize data on CHEK2 in clinical practice, particularly in Japan, we recently reported a large-scale case-control study in Japan using genome sequencing data from 112,141 individuals and functional analysis. We found significant associations between CHEK2 GPVs and both female breast cancer (OR = 1.8, P = 1.2 × 10−3) and prostate cancer (OR = 1.8, P = 1.7 × 10−3). No significant differences were observed in age at diagnosis, tumor aggressiveness, or overall survival between GPV carriers and non-carriers. These findings suggest that CHEK2 contributes similarly to cancer risk in Japanese and European populations. Our results are essential to support clinical decision-making and define appropriate management of CHEK2 carriers in Japan.