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PMID: 41943275 已发表 · epublish 英语

Perception of Family Genetic Testing for Hereditary Breast and Ovarian Cancer: A Survey of Patients and General Public.

Journal of Korean medical science ·第 41 卷 ·第 12 期 ·2026-03-30

Lee EJ, Kim JY, An J, Yun J, Jang S, Jung M, Jeong YM, Cho C, Jeong TD, Jo J, Moon BI, So MK, Huh J

摘要

Family genetic testing facilitates early cancer diagnosis and prevention for relatives of individuals carrying Breast Cancer Susceptibility Genes 1 and 2 (BRCA1/2) pathogenic variants. This study evaluates perceptions of family genetic testing among Korean cancer patients and the general public, providing foundational data to guide strategies for implementation. A total of 186 participants (86 patients with cancer and 100 public controls) were educated on hereditary breast and ovarian cancer and family genetic testing via a presentation video accessed through QR codes or smartphone links. Afterward, participants completed a 10-question knowledge test, and perceptions were assessed using a questionnaire featuring a hypothetical BRCA1/2 patient scenario to explore general characteristics and attitudes toward family genetic testing. Post-education, knowledge scores were significantly higher in the patient group than in the controls (median: 10 vs. 9, P = 0.040). Overall, 54.6% of participants shared their genetic test results, with patients sharing more frequently than controls (59.6% vs. 50.0%, P < 0.001). First-degree relatives were the most common recipients (patients: 81.0%, controls: 76.9%, P = 0.163). Results were shared to inform relatives of cancer risks and encourage prevention, while weak familial relationships were cited as barriers. Face-to-face communication was the preferred sharing method. Most participants (75.8%) believed genetic results should be shared with children once they turn 19. Promoting family genetic testing requires effective communication and dissemination of accurate information. Developing systematic genetic counseling programs is essential to achieving these objectives.

关键词
BRCA1 BRCA2 Cancer Prevention Family Family Communication Genetic Counseling Genetic Testing Hereditary Breast and Ovarian Cancer Syndrome Inherited Genetic Variants Surveys and Questionnaires
文献信息
期刊
Journal of Korean medical science
期刊简称
J Korean Med Sci
ISSN
1598-6357
发表日期
2026-03-30
语言
英语
国家/地区
Korea (South)
NLM ID
8703518
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