日本産科婦人科学会雑誌

［Objective］Hereditary breast and ovarian cancer syndrome（HBOC）and Lynch syndrome（LS）are the most common hereditary cancer syndromes, increasing cancer risk across organs and generations. Identifying at-risk individuals based on personal and family health history in primary care is recommended but challenging. We developed the web-based, Japanese version of Cancer Risk Assessment System in Primary Care（JCRAS-PC）to address this gap. ［Methods］After reviewing 12 relevant guidelines and articles, we identified 155 criteria indicating genetic testing or referral to genetic professionals. We finally selected 50 items by panel review with EviQ and NICE guideline used as the primary references because these were aimed for primary care providers. JCRAS-PC features family tree creation with instant HBOC/LS risk assessment based on the 52 items, factsheets and collection of example sentences for communication with patients, a list of cancer surveillance strategies for HBOC/LS, and self-learning resources on clinical genetics. Regarding validation, we examined the extent to which JCRAS-PC identified cases appropriate for referral to genetic professionals against genetic counselors' assessments in de-identified 35 cases where genetic consultations had occurred. We calculated kappa, sensitivity, and specificity using IBM SPSS version 25 statistical software. ［Results］JCRAS-PC showed substantial agreement（kappa= 0.91）with 96.6％ sensitivity and 100％ specificity for HBOC/LS risk assessment. In one case, JCRAS-PC determined “no risk” while genetic counselors suggested “refer.”［Conclusion］We developed a validated, web-based HBOC/LS risk assessment system. Its feasibility and utility in primary care warrant further investigation.