PDF(Pubmed)
Abstract：
Pathogenic variants (PVs) in BRCA1 and BRCA2 increase the lifetime risks of breast and ovarian cancer. Guidelines recommend breast screening (magnetic resonance imaging (MRI) and mammogram) or risk-reducing mastectomy (RRM) and salpingo-oophorectomy (RRSO). We sought to (1) characterize the population of BRCA1/2 PV carriers in Newfoundland and Labrador (NL), (2) evaluate risk-reducing interventions, and (3) identify factors influencing screening and prevention adherence. We conducted a retrospective study from a population-based provincial cohort of BRCA1/2 PV carriers. The eligibility criteria for risk-reducing interventions were defined for each case and patients were categorized based on their level of adherence with recommendations. Chi-squared and regression analyses were used to determine which factors influenced uptake and level of adherence. A total of 276 BRCA1/2 PV carriers were identified; 156 living NL biological females composed the study population. Unaffected females were younger at testing than those with a cancer diagnosis (44.4 years versus 51.7 years; p = 0.002). Categorized by eligibility, 61.0%, 61.6%, 39.0%, and 75.7% of patients underwent MRI, mammogram, RRM, and RRSO, respectively. Individuals with breast cancer were more likely to have RRM (64.7% versus 35.3%; p < 0.001), and those who attended a specialty hereditary cancer clinic were more likely to be adherent to recommendations (73.2% versus 13.4%; p < 0.001) and to undergo RRSO (84.1% versus 15.9%; p < 0.001). Nearly 40% of the female BRCA1/2 PV carriers were not receiving breast surveillance according to evidence-based recommendations. Cancer risk reduction and uptake of breast imaging and prophylactic surgeries are significantly higher in patients who receive dedicated specialty care. Organized hereditary cancer prevention programs will be a valuable component of Canadian healthcare systems and have the potential to reduce the burden of disease countrywide.
摘要：
BRCA1和BRCA2中的致病变异（PVs）会增加乳腺癌和卵巢癌的终生风险。指南建议进行乳房筛查（磁共振成像（MRI）和乳房X光检查）或降低风险的乳房切除术（RRM）和输卵管卵巢切除术（RRSO）。我们试图（1）表征纽芬兰和拉布拉多（NL）的BRCA1/2PV载体的数量，(2)评估降低风险的干预措施，(3)确定影响筛查和预防依从性的因素。我们进行了一项基于人群的省级BRCA1/2PV携带者队列的回顾性研究。为每个病例定义了降低风险干预措施的资格标准，并根据患者对建议的依从性水平对患者进行分类。卡方和回归分析用于确定哪些因素影响摄取和依从性水平。总共确定了276名BRCA1/2PV携带者；研究人群中有156名存活的NL生物雌性。在测试中，未受影响的女性比诊断为癌症的女性年轻（44.4岁对51.7岁；p=0.002）。按资格分类，61.0%,61.6%,39.0%,75.7%的患者接受了MRI检查，乳房X线照片,RRM,和RRSO,分别。乳腺癌患者更有可能发生RRM(64.7%对35.3%;p<0.001)，参加过专业遗传性癌症诊所的患者更有可能遵循建议(73.2%对13.4%;p<0.001),并接受RRSO(84.1%对15.9%;p<0.001).根据循证建议，近40%的女性BRCA1/2PV携带者没有接受乳房监测。在接受专业护理的患者中，癌症风险降低和乳房成像和预防性手术的摄取显着提高。有组织的遗传性癌症预防计划将成为加拿大医疗保健系统的重要组成部分，并有可能减轻全国范围内的疾病负担。
