Evans D Gareth R, Lalloo Fiona, Ashcroft Linda, Shenton Andrew, Clancy Tara, Baildam Andrew D, Brain Anne, Hopwood Penelope, Howell Anthony
Regional Genetic Service, The University of Manchester, St.Mary's Hospital, Manchester, United Kingdom.
Cancer Epidemiol Biomarkers Prev. 2009 Aug;18(8):2318-24. doi: 10.1158/1055-9965.EPI-09-0171.
The uptake of risk-reducing surgery in women at increased risk of breast and ovarian cancer is highly variable between countries and centers within countries. We have investigated the rate, timing, and age of uptake of surgery in the northwest of England to report the results after up to 7 years in a Regional Genetics center.
Uptake was documented in 211 known unaffected BRCA1/2 mutation carriers from 509 families and in 3,515 women at >25% lifetime risk of breast cancer without known mutations.
Of the 211 mutation carriers, 40% opted for bilateral risk-reducing mastectomy (BRRM) and 45% underwent bilateral risk-reducing salpingo-oophorectomy (BRRSPO). Uptake of BRRM was significantly related to lifetime risk and age but continued over several years. In women not known to carry a BRCA mutation, 6.4% of women at 40% to 45% lifetime risk, 2.5% of women at 33% to 39% lifetime risk, and 1.8% of women at 25% to 32% lifetime risk underwent BRRM (P < 0.005). BRRSPO uptake was greater in BRCA1 (52%) than BRCA2 (28%) carriers but in both groups tended to occur within the first 2 years after gene test (except in the youngest age group) and in women between the ages of 35 and 45.
To truly assess the uptake of risk-reducing surgery, longer-term follow-up is necessary particularly in younger women who are likely to delay BRRSPO. Careful risk counseling does seem to influence women's decisions for surgery, although the effect is not immediate.
在乳腺癌和卵巢癌风险增加的女性中，降低风险手术的接受情况在不同国家以及同一国家的不同中心之间存在很大差异。我们调查了英格兰西北部手术的接受率、时间和年龄，以报告在一个区域遗传学中心长达7年的结果。
记录了来自509个家庭的211名已知未受影响的BRCA1/2突变携带者以及3515名终生患乳腺癌风险>25%且无已知突变的女性的手术接受情况。
在211名突变携带者中，40%选择了双侧降低风险乳房切除术（BRRM），45%接受了双侧降低风险输卵管卵巢切除术（BRRSPO）。BRRM的接受情况与终生风险和年龄显著相关，但持续了数年。在未知携带BRCA突变的女性中，终生风险为40%至45%的女性中有6.4%、终生风险为33%至39%的女性中有2.5%、终生风险为25%至32%的女性中有1.8%接受了BRRM（P<0.005）。BRRSPO在BRCA1携带者（52%）中的接受率高于BRCA2携带者（28%），但在两组中，手术往往在基因检测后的头两年内进行（最年轻年龄组除外），且接受手术的女性年龄在35至45岁之间。
为了真正评估降低风险手术的接受情况，需要进行长期随访，尤其是在可能推迟BRRSPO的年轻女性中。仔细的风险咨询似乎确实会影响女性的手术决策，尽管效果并非立竿见影。
