Cronin-Fenton Deirdre P, Kjærsgaard Anders, Nørgaard Mette, Pedersen Inge Søkilde, Thomassen Mads, Kaye James A, Gutierrez Lia, Telford Claire, Lewis Jan, Tyczynski Jerzy E, Sørensen Henrik Toft
Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus, Denmark.
Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus, Denmark.
Cancer Epidemiol. 2017 Aug;49:128-137. doi: 10.1016/j.canep.2017.05.016. Epub 2017 Jun 8.
To investigate breast cancer prognosis (disease-free (DFS) and overall survival (OS)) among carriers of germline BRCA mutations (BRCAm) in Denmark.
We identified all women in Central and Northern Denmark diagnosed with breast cancer during 2004-2011. We retrieved information on germline BRCAm testing from Clinical Genetics departments and clinical/treatment characteristics from population-based medical registries. Follow-up for recurrence, new primary cancer, and mortality extended from 180days after diagnosis until 31/12/2012. We estimated median DFS and OS and five-year cumulative incidence and incidence rates (IR/1000 person-years), and 95% confidence intervals (95% CI), for each outcome.
Among 9874 patients, 523 (5%) underwent BRCA testing-90 were BRCAm carriers, 433 were BRCA wildtype (BRCAwt). Compared with BRCAwt women, BRCAm carriers were younger, had lower stage, and ER- and HER2- tumors. Median time from diagnosis to BRCA testing was 0.91 years and 1.3 years in BRCAm and BRCAwt women; median follow-up to first event was 3.9 and 3.4 years, respectively. Five-year DFS and OS were higher in BRCAm than BRCAwt women: 88% (95%CI=78.3-93.5) vs. 75.3% (95%CI=70.2-79.6) and 97.8% (95%CI=91.4-99.4) vs 92.2% (95%CI=88.5-94.7), respectively. Five-year IRs of recurrence were 36.7/1000 person-years (95%CI=15.8-72.2) in the BRCAm cohort vs. 58.4 (95%CI=42.9-77.6) in the BRCAwt cohort.
BRCAm carriers may have a better prognosis than BRCAwt women. However, limited testing conducted mainly during follow-up, yielded low numbers for precise estimations, and may be attributable to selection bias.
调查丹麦种系BRCA突变（BRCAm）携带者的乳腺癌预后（无病生存期（DFS）和总生存期（OS））。
我们确定了2004年至2011年期间在丹麦中部和北部被诊断为乳腺癌的所有女性。我们从临床遗传学部门获取了种系BRCAm检测信息，并从基于人群的医疗登记处获取了临床/治疗特征。对复发、新发原发性癌症和死亡率的随访从诊断后180天延长至2012年12月31日。我们估计了每种结局的中位DFS和OS、五年累积发病率和发病率（IR/1000人年）以及95%置信区间（95%CI）。
在9874名患者中，523名（5%）接受了BRCA检测，其中90名是BRCAm携带者，433名是BRCA野生型（BRCAwt）。与BRCAwt女性相比，BRCAm携带者更年轻，分期更低，且肿瘤为ER和HER2阴性。BRCAm和BRCAwt女性从诊断到BRCA检测的中位时间分别为0.91年和1.3年；首次事件的中位随访时间分别为3.9年和3.4年。BRCAm女性的五年DFS和OS高于BRCAwt女性：分别为88%（95%CI=78.3-93.5）和75.3%（95%CI=70.2-79.6），以及97.8%（95%CI=91.4-99.4）和92.2%（95%CI=88.5-94.7）。BRCAm队列中复发的五年发病率为36.7/1000人年（95%CI=15.8-72.2），而BRCAwt队列中为58.4（95%CI=42.9-77.6）。
BRCAm携带者的预后可能比BRCAwt女性更好。然而，主要在随访期间进行的检测有限，导致精确估计的数量较少，这可能归因于选择偏倚。
