Hyldebrandt Hanne Kjensli, Stormorken Astrid Tenden, Vitelli Valeria, Mæhle Lovise, Schlichting Ellen, Grindedal Eli Marie
Department of Medical Genetics, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Eur J Surg Oncol. 2025 Mar;51(3):109571. doi: 10.1016/j.ejso.2024.109571. Epub 2024 Dec 31.
Risk reducing mastectomy (RRM) is an option for women with pathogenic germline variants in BRCA1 or BRCA2 (BRCA1/2). This study investigates and compares RRM-uptake among Norwegian BRCA1/2 carriers from 2008 to 2021, temporal trends, and incidence of breast cancer (BC) after surgery.
BRCA1/2 carriers without prior breast or ovarian cancer, tested at Oslo University Hospital between January 1st 2008 and December 31st 2021 were included in the study. Data on RRM was obtained from The Norwegian Patient Registry. RRM-uptake, time from genetic testing (GT) to RRM, and RRM-uptake 2- and 5-years post-GT was calculated for all carriers, according to gene and age at GT. RRM-uptake was compared for those tested in 2008/2009 versus 2015/2016. BC diagnoses post-RRM was collected from The Cancer Registry of Norway.
In total, 1237 BRCA1/2 carriers were included, 679 (54.9 %) BRCA1 and 558 (45.1 %) BRCA2. Six hundred and four (48.8 %) had chosen RRM, 370 (54.5 %) BRCA1 and 234 (42.0 %) BRCA2 (p < 0.001). Mean age at RRM was 40.1 for BRCA1 and 44.6 for BRCA2 (p < 0.001). Mean time from GT to RRM was 2.3 years for BRCA1 and 3 years for BRCA2 (p < 0.001). Women tested in 2015/2016 were 2.6 times more likely to choose RRM compared to those tested in 2008/2009. Two out of the 604 (0.3 %) had developed BC post-RRM.
Nearly half of BRCA1/2 carriers had chosen RRM, with increasing uptake since 2008. Compared to BRCA2 carriers, more BRCA1 carriers chose RRM, were operated at a younger age and sooner after GT. Post-RRM BC incidence was low.
降低风险的乳房切除术（RRM）是携带BRCA1或BRCA2（BRCA1/2）致病种系变异的女性的一种选择。本研究调查并比较了2008年至2021年挪威BRCA1/2携带者中RRM的接受情况、时间趋势以及手术后乳腺癌（BC）的发病率。
本研究纳入了2008年1月1日至2021年12月31日期间在奥斯陆大学医院接受检测、既往无乳腺癌或卵巢癌的BRCA1/2携带者。RRM的数据来自挪威患者登记处。根据基因和基因检测时的年龄，计算所有携带者的RRM接受率、从基因检测（GT）到RRM的时间以及GT后2年和5年的RRM接受率。比较了2008/2009年与2015/2016年接受检测者的RRM接受率。RRM后BC诊断信息从挪威癌症登记处收集。
总共纳入了1237名BRCA1/2携带者，其中679名（54.9%）为BRCA1，558名（45.1%）为BRCA2。604名（48.8%）选择了RRM，其中370名（54.5%）为BRCA1，234名（42.0%）为BRCA2（p<0.001）。BRCA1进行RRM的平均年龄为40.1岁，BRCA2为44.6岁（p<0.001）。BRCA1从GT到RRM的平均时间为2.3年，BRCA2为3年（p<0.001）。2015/2016年接受检测的女性选择RRM的可能性是2008/2009年接受检测者的2.6倍。604名中有2名（0.3%）在RRM后发生了BC。
近一半的BRCA1/2携带者选择了RRM，自2008年以来接受率不断上升。与BRCA2携带者相比，更多的BRCA1携带者选择RRM，手术年龄更小且在GT后更早进行手术。RRM后BC发病率较低。
