Miami Cancer Institute, Plantation, FL, USA.
Patient Health and Impact, Pfizer Inc, New York, NY, USA.
Adv Ther. 2023 Jan;40(1):331-348. doi: 10.1007/s12325-022-02302-2. Epub 2022 Oct 28.
Genetic mutations in breast cancer susceptibility gene 1 or 2 (BRCA1/2) confer a high risk for developing breast cancer; however, at least 50% of women with BRCA1/2 mutations go undiagnosed. This study evaluated differences in patient demographics, clinical characteristics, and BRCA1/2 mutation testing in the USA, European Union (EU4), and Israel in a real-world population of patients with human epidermal growth factor receptor 2-negative (HER2-) advanced breast cancer (ABC).
This study was a retrospective analysis of data from the Adelphi Real World ABC Disease Specific Programme in the USA, EU4, and Israel. Medical oncologists completed a patient record form, which included detailed questions on demographics, clinical assessments and outcomes, and treatment history. Eligible patients were at least 18 years of age and receiving therapy for stage IIIb-IV ABC.
Among the 2527 study patients, 407 were from the USA, 1926 were from the EU4, and 194 were from Israel; 86% had hormone receptor-positive (HR+)/HER2- ABC and 14% had triple-negative breast cancer (TNBC). Israeli patients had a higher rate of family history of BRCA-related cancer (69%) compared with patients in the EU4 (18%; p < 0.0001) and USA (18%; p < 0.0001). Among patients with HR+/HER2- ABC, the BRCA1/2 testing rate was 99% in Israel, 37% in the EU4, and 68% in the USA (p < 0.0001 vs Israel and the EU4). The age of tested patients was significantly younger in Israel (56 years) compared with the EU4 (59 years; p = 0.016 vs Israel) and USA (64 years; p < 0.0001 vs Israel and the EU4). Among patients with TNBC, the BRCA1/2 testing rate was 100% in Israel, 78% in the EU4 (p < 0.0001 vs Israel), and 93% in the USA (p < 0.002 vs the EU4). Among tested patients, genetic counseling rates were also higher in Israel (98%) compared with the EU4 (40%; p < 0.0001) and USA (38%; p < 0.0001).
Testing and genetic counseling rates for BRCA1/2 mutations were very high in Israel, potentially due to the high rate of family history of BRCA-related cancer in this population and higher general awareness of genetic testing. In the EU4 and USA, overall rates of testing for BRCA1/2 mutations and genetic counseling were significantly lower compared with Israel. Given the high risk of breast cancer in BRCA1/2 mutation carriers and the efficacy of new therapies in treating ABC with a BRCA1/2 mutation, efforts should be made to improve BRCA1/2 testing rates in Europe and the USA.
乳腺癌易感基因 1 或 2（BRCA1/2）中的基因突变使乳腺癌发病风险显著升高；然而，至少有 50%的携带 BRCA1/2 突变的女性未被诊断。本研究评估了美国、欧盟 4 国（EU4）和以色列在真实世界的人表皮生长因子受体 2 阴性（HER2-）晚期乳腺癌（ABC）患者人群中，患者人口统计学特征、临床特征以及 BRCA1/2 突变检测的差异。
这是一项在美国、EU4 和以色列的 Adelphi 真实世界 ABC 疾病专项研究中的回顾性分析。肿瘤内科医生填写患者病历表，其中包含人口统计学、临床评估和结局以及治疗史等详细问题。入组患者年龄至少为 18 岁，并接受 IIIb-IV 期 ABC 的治疗。
在 2527 例研究患者中，407 例来自美国，1926 例来自 EU4，194 例来自以色列；86%为激素受体阳性（HR+）/HER2-ABC，14%为三阴性乳腺癌（TNBC）。与 EU4（18%；p<0.0001）和美国（18%；p<0.0001）患者相比，以色列患者的 BRCA 相关癌症家族史发生率更高（69%）。在 HR+/HER2-ABC 患者中，以色列的 BRCA1/2 检测率为 99%，EU4 为 37%，美国为 68%（p<0.0001 对比以色列和 EU4）。接受检测的患者年龄在以色列（56 岁）显著低于 EU4（59 岁；p=0.016 对比以色列）和美国（64 岁；p<0.0001 对比以色列和 EU4）。在 TNBC 患者中，以色列的 BRCA1/2 检测率为 100%，EU4 为 78%（p<0.0001 对比以色列），美国为 93%（p<0.002 对比 EU4）。在接受检测的患者中，以色列的遗传咨询率也显著高于 EU4（40%；p<0.0001）和美国（38%；p<0.0001），为 98%。
以色列的 BRCA1/2 突变检测和遗传咨询率非常高，这可能是由于该人群中 BRCA 相关癌症的家族史发生率较高，以及对遗传检测的普遍认识较高。EU4 和美国的 BRCA1/2 突变检测总体率和遗传咨询率明显低于以色列。鉴于 BRCA1/2 突变携带者的乳腺癌风险较高，以及新疗法在治疗携带 BRCA1/2 突变的 ABC 中的疗效，应努力提高欧洲和美国的 BRCA1/2 检测率。
