Clinical Implementation Study of Genetic Risk-Based Breast Cancer Screening

IF 2.7 3区医学 Q2 ONCOLOGY

Clinical breast cancer Pub Date : 2026-02-01 Epub Date: 2025-09-10 DOI:10.1016/j.clbc.2025.08.021

Madli Tamm , Peeter Padrik , Kristiina Ojamaa , Anette Paas , Anni Lepland , Krista Kruuv-Käo , Liis Leitsalu , Siim Sõber , Laura Roht , Sander Pajusalu , Tiina Kahre , Anna Padrik , Jagnar Pindmaa , Kadri Luga , Ly Rootslane , Anne Ilves , Sulev Ulp , Kersti Kallak , Ave-Triin Tihamäe , Inna Feldman , Neeme Tõnisson

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引用次数: 0

Abstract

Background

Breast cancer (BC) remains the most common type of cancer and the leading cause of cancer-related deaths in women despite the widespread screening programs and personalized treatment options. Current age-based screening programs are suboptimal missing high-risk young women. The “Be RIGHT with breast cancer risk management” (BRIGHT) study evaluated a genetic risk-based personalized BC screening service model in real-world healthcare settings, focusing on younger women excluded from standard screening.

Methods

The BRIGHT study included 800 healthy Estonian women aged 35 to 49 using telemedicine and home-based testing. Participants underwent polygenic risk score (PRS) testing and based on the questionnaire those meeting the monogenic pathogenic variant (MPV) testing criteria were referred to clinical geneticists. All women received personalized genetic risk-based clinical recommendations, and if needed, referral to BC screening. Participants’ and healthcare professionals’ feedback was collected.

Results

330 (41.3%) women with elevated polygenic risk received recommendations to start screening earlier than the current standard. 124 (15.5%) women were advised to begin BC screening immediately, among whom one was diagnosed with stage 0 cancer and one with a precancerous lesion. Of the 90 participants completing MPV testing, four (4.4%) were MPV-positive. Feedback indicated high satisfaction with the digital approach and a clear understanding of results and recommendations.

Conclusions

The study demonstrated the feasibility and acceptability of a personalized genetic risk-based BC screening model. It has the potential to enhance BC screening programs, particularly for younger women and those at higher genetic risk, while avoiding unnecessary interventions for low-risk individuals.

查看原文本刊更多论文

基于遗传风险的乳腺癌筛查临床实施研究。

背景：尽管有广泛的筛查项目和个性化的治疗方案，乳腺癌（BC）仍然是最常见的癌症类型，也是女性癌症相关死亡的主要原因。目前以年龄为基础的筛查项目并不能很好地遗漏高危年轻女性。“正确进行乳腺癌风险管理”（BRIGHT）研究评估了现实医疗环境中基于遗传风险的个性化BC筛查服务模式，重点关注被排除在标准筛查之外的年轻女性。方法：BRIGHT研究包括800名35至49岁的健康爱沙尼亚妇女，使用远程医疗和家庭测试。参与者进行了多基因风险评分（PRS）测试，并根据问卷调查，将符合单基因致病变异（MPV）测试标准的参与者转诊给临床遗传学家。所有的妇女都接受了个性化的基于遗传风险的临床建议，如果需要，转介到BC筛查。收集了参与者和医疗保健专业人员的反馈。结果：330名（41.3%）多基因风险升高的妇女被建议比现行标准更早开始筛查。124名（15.5%）女性被建议立即开始BC筛查，其中1名被诊断为0期癌症，1名被诊断为癌前病变。在90名完成MPV测试的参与者中，4名（4.4%）MPV阳性。反馈表明对数字化方法非常满意，对结果和建议有清晰的理解。结论：该研究证明了基于遗传风险的个性化BC筛查模型的可行性和可接受性。它有可能加强BC筛查项目，特别是对年轻女性和遗传风险较高的女性，同时避免对低风险个体进行不必要的干预。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical breast cancer 医学-肿瘤学

CiteScore

5.40

自引率

3.20%

发文量

174

审稿时长

48 days

期刊介绍： Clinical Breast Cancer is a peer-reviewed bimonthly journal that publishes original articles describing various aspects of clinical and translational research of breast cancer. Clinical Breast Cancer is devoted to articles on detection, diagnosis, prevention, and treatment of breast cancer. The main emphasis is on recent scientific developments in all areas related to breast cancer. Specific areas of interest include clinical research reports from various therapeutic modalities, cancer genetics, drug sensitivity and resistance, novel imaging, tumor genomics, biomarkers, and chemoprevention strategies.