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PMID: 42410220 已发表 · ppublish 英语

Towards sustainable hereditary breast and ovarian cancer surveillance: insights from a single-center survey.

Journal of human genetics ·第 71 卷 ·第 9 期 ·2026-09-00

Goto Y, Seki T, Nakato D, Nakamura K, Yoshihama T, Tanaka M, Ono I, Misu K, Kobayashi Y, Masuda K, Takaishi H, Yamagami W, Kosaki K

摘要

Hereditary breast and ovarian cancer (HBOC) syndrome, caused by pathogenic variants in BRCA1 or BRCA2, is associated with increased risks of breast, ovarian, pancreatic, and prostate cancers. Although long-term, multi-organ surveillance is recommended, real-world data on its implementation in Japan remain limited. We conducted a web-based cross-sectional survey among 274 individuals registered for a hybrid public lecture at Keio University Hospital in 2024; 121 responded (44.2%). Respondents included HBOC carriers, healthcare professionals, and the general public. Among 66 carriers, 57 were affected and 9 were unaffected. Although the sample size is small, surveillance uptake was high among affected carriers (89.5%). Approximately half of affected carriers undergoing surveillance reported satisfaction, while nearly half underwent surveillance at multiple institutions, suggesting fragmented care. Across all groups including healthcare professionals and the general public, the most acceptable annual cost was less than 50,000 yen. Healthcare professionals identified interdepartmental coordination and shortages of genetic specialists as major challenges. These exploratory findings suggest that affordability, convenience, interdepartmental and interfacility coordination, and the availability of genetic medicine professionals may be important considerations in efforts to develop sustainable HBOC surveillance systems in Japan.

文献信息
期刊
Journal of human genetics
期刊简称
J Hum Genet
ISSN
1435-232X
发表日期
2026-09-00
语言
英语
国家/地区
England
NLM ID
9808008
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