Tecnologico de Monterrey, School of Medicine and Health Sciences, Monterrey, Mexico.
Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
JCO Glob Oncol. 2024 Apr;10:e2300417. doi: 10.1200/GO.23.00417.
Genetic cancer risk assessment (GCRA) provides pathogenic variant (PV) carriers with the invaluable opportunity to undertake timely cancer risk-reducing (RR) measures and initiate cascade testing (CT). This study describes the uptake of these strategies and the related barriers among breast cancer-associated germline PV carriers in Mexico.
Carriers who were at least 6 months after disclosure of genetic test results at two GCRA referral centers were invited to answer a survey assessing sociodemographic characteristics, awareness of their carrier status and its implications, uptake of RR measures according to international guidelines by PV, CT initiation, and associated challenges.
Of the eligible carriers, 246/384 (64%) answered the survey (median age: 44 years). Most were female (88%), married/in domestic partnership (66%), and had personal breast/ovarian cancer history (61%). PVs included / (75%), (10%), (5%), (5%), (2%), (2%), (1%), and (1%). Most (87%) participants were aware of their carrier status. When recommended, 37% underwent RR bilateral mastectomy, 48% RR oophorectomy, 70% annual mammogram, and 20% breast magnetic resonance imaging. Challenges hindering the uptake of RR measures included financial limitations (67%), lack of recommendation by their physician (35%), and fear (24%). Nearly all (98%) claimed sharing their results with their relatives. CT was initiated in 63% of families and was associated with carriers being married/in domestic partnership ( = .04) and believing GCRA was useful ( < .001).
Despite the resource-constrained setting, relevant rates of RR measures and CT were observed. Targeted interventions to reduce out-of-pocket expenses and improve patient-physician communication and patients' understanding on carrier status are warranted to enhance the overall benefit of GCRA and ultimately improve the provision of patient-centered care to both carriers and their at-risk relatives.
遗传癌症风险评估（GCRA）为致病性变异（PV）携带者提供了宝贵的机会，使他们能够及时采取癌症风险降低（RR）措施并启动级联检测（CT）。本研究描述了在墨西哥，乳腺癌相关种系 PV 携带者对这些策略的采用情况以及相关障碍。
在两个 GCRA 转诊中心至少 6 个月后收到基因检测结果的携带者被邀请回答一项调查，评估其社会人口统计学特征、对携带者身份及其影响的认识、根据国际指南采取 RR 措施的情况（按 PV 分类）、CT 的启动以及相关挑战。
在符合条件的携带者中，有 246/384 名（64%）回答了调查（中位年龄：44 岁）。大多数是女性（88%）、已婚/处于家庭伴侣关系（66%），且有个人乳腺癌/卵巢癌病史（61%）。PV 包括 BRCA1（75%）、BRCA2（10%）、ATM（5%）、PALB2（5%）、CDH1（2%）、TP53（2%）、PTEN（1%）和 CHEK2（1%）。大多数（87%）参与者了解其携带者身份。当推荐时，37%的人接受了 RR 双侧乳房切除术，48%接受了 RR 卵巢切除术，70%的人每年进行乳房 X 光检查，20%的人进行乳房磁共振成像检查。阻碍 RR 措施采用的挑战包括经济限制（67%）、缺乏医生的推荐（35%）和恐惧（24%）。几乎所有人（98%）都声称会与亲属分享他们的结果。在 63%的家庭中启动了 CT，与携带者已婚/处于家庭伴侣关系（ =.04）和认为 GCRA 有用（ <.001）有关。
尽管资源有限，但 RR 措施和 CT 的相关比率都很高。需要有针对性地干预，以减少自付费用，改善医患沟通和患者对携带者身份的理解，从而提高 GCRA 的整体效益，最终为携带者及其高危亲属提供以患者为中心的护理。
