Long Jennifer, Evans Thomas G, Bailey Damian, Lewis Michael H, Gower-Thomas Kate, Murray Alexandra
Royal Glamorgan Hospital, Llantrisant, UK.
University of South Wales, Pontypridd, UK.
Breast J. 2018 Jul;24(4):580-585. doi: 10.1111/tbj.12978. Epub 2017 Dec 29.
Women who inherit a mutated copy of the BRCA gene have a higher lifetime risk of developing breast cancer. No large epidemiological studies exist looking at BRCA mutation carriers in UK populations. All patients with BRCA1/BRCA2 mutation identified between 1995 and 2015 were included. Individuals were identified from a prospectively gathered data base. Genetics case-notes were obtained and retrospective analysis performed. 581 female BRCA mutation carriers were identified with a median age of 34 (18-81) at the time of testing. Of the 301 women who underwent diagnostic testing (symptomatic) 246 had been diagnosed with breast cancer, 89 with ovarian cancer and 37 had both at time of testing. Median age at diagnostic test was 51 (25-81). 33% of women underwent risk-reducing mastectomies (RRM); median age at surgery 45. This compares with 37% of women in this diagnostic group who underwent Risk-reducing bilateral salpingo-oopherectomies (RRBSO) at a median age of 46. Two hundred and eighty women underwent predictive testing (family history, asymptomatic), median age 36 (18-81). 34% of women in this predictive group underwent RRM, median age 37. There was a 29% uptake of RRBSO (median age 44 years). Fifteen women (5%) developed breast cancer after being tested; none of these had undergone RRS. This unique study of all BRCA mutation carriers in Wales shows considerable variation in uptake of RRS. The decision to undergo RRS is complex and involves a number of factors, including a woman's age and life stage. As BRCA testing becomes more frequent and more gene mutation carriers are identified there will be significant implications for service allocation, screening demands, and provision of risk-reducing surgery for this high-risk patient group.
携带BRCA基因突变的女性一生中患乳腺癌的风险更高。目前尚无针对英国人群中BRCA突变携带者的大型流行病学研究。纳入了1995年至2015年间确诊的所有BRCA1/BRCA2突变患者。这些个体是从一个前瞻性收集的数据库中识别出来的。获取了遗传学病例记录并进行了回顾性分析。共识别出581名携带BRCA基因突变的女性，检测时的中位年龄为34岁（18 - 81岁）。在301名接受诊断性检测（有症状）的女性中，246人被诊断出患有乳腺癌，89人患有卵巢癌，37人在检测时同时患有这两种癌症。诊断性检测时的中位年龄为51岁（25 - 81岁）。33%的女性接受了降低风险的乳房切除术（RRM）；手术时的中位年龄为45岁。相比之下，该诊断组中37%的女性接受了降低风险的双侧输卵管卵巢切除术（RRBSO），中位年龄为46岁。280名女性接受了预测性检测（有家族病史，无症状），中位年龄为36岁（18 - 81岁）。该预测组中34%的女性接受了RRM，中位年龄为37岁。RRBSO的接受率为29%（中位年龄44岁）。15名女性（5%）在检测后患上了乳腺癌；这些人中没有人接受过RRS。这项针对威尔士所有BRCA突变携带者的独特研究表明，RRS的接受率存在很大差异。决定接受RRS是复杂的，涉及许多因素，包括女性的年龄和生活阶段。随着BRCA检测越来越频繁，越来越多的基因突变携带者被识别出来，这将对服务分配、筛查需求以及为这个高危患者群体提供降低风险的手术产生重大影响。
