Kearton Stephanie, Wills Karen, Bunting Michael, Blomfield Penny, James Paul A, Burke Jo
Tasmanian Clinical Genetics Service, Royal Hobart Hospital, Liverpool Street, Hobart, TAS, 7000, Australia.
Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, 7000, Australia.
Fam Cancer. 2018 Jul;17(3):333-344. doi: 10.1007/s10689-017-0047-1.
Women carrying germline mutations in BRCA1 or BRCA2 have significantly increased lifetime risks of breast and tubo-ovarian cancer. To manage the breast cancer risk women may elect to have breast screening by MRI/mammogram from age 30, to take risk-reducing medication, or to have a prophylactic bilateral mastectomy. To manage the tubo-ovarian cancer risk, the only effective strategy is to have a bilateral salpingo-oophorectomy, recommended by age 40 (BRCA1) or 'around' age 40 (BRCA2). Early studies suggested that uptake of these cancer risk-reducing strategies was low. More recent studies have revealed higher rates of uptake, however it is unclear whether uptake is genuinely improving or whether the higher uptake rates reflect changes in the populations studied. In this study we surveyed 193 BRCA1/2 mutation carriers in the state of Tasmania to determine the uptake of cancer risk-reducing strategies and what factors might influence women's decisions in relation to both gynaecological and breast surgery. We observed that uptake of risk management strategies varied depending on the strength of the recommendation in the national guidelines. Uptake rates were > 90% for strategies which are strongly recommended, such as breast screening by MRI/mammogram and bilateral salpingo-oophorectomy, and were unaffected by demographic factors such as socio-economic disadvantage and educational achievement. Uptake rates were much lower for strategies which are presented in the guidelines as options for consideration and where patient choice and shared decision making are encouraged, such as prophylactic mastectomy (29%) and chemoprevention (1%) and in the case of prophylactic mastectomy, were influenced by both socio-economic advantage and educational achievement.
携带BRCA1或BRCA2基因种系突变的女性患乳腺癌和输卵管卵巢癌的终生风险显著增加。为了管理乳腺癌风险，女性可以选择从30岁开始通过MRI/乳房X光检查进行乳房筛查、服用降低风险的药物或进行双侧预防性乳房切除术。为了管理输卵管卵巢癌风险，唯一有效的策略是进行双侧输卵管卵巢切除术，建议在40岁（BRCA1）或“大约”40岁（BRCA2）时进行。早期研究表明，这些降低癌症风险策略的采用率较低。然而，最近的研究显示采用率有所提高，但尚不清楚采用率是否真的在提高，或者较高的采用率是否反映了所研究人群的变化。在本研究中，我们对塔斯马尼亚州的193名BRCA1/2突变携带者进行了调查，以确定降低癌症风险策略的采用情况，以及哪些因素可能影响女性在妇科和乳房手术方面的决策。我们观察到，风险管理策略的采用情况因国家指南中建议的力度而异。对于强烈推荐的策略，如通过MRI/乳房X光检查进行乳房筛查和双侧输卵管卵巢切除术，采用率>90%，且不受社会经济劣势和教育程度等人口统计学因素的影响。对于指南中作为可供考虑的选项且鼓励患者选择和共同决策的策略，如预防性乳房切除术（29%）和化学预防（1%），采用率要低得多，而就预防性乳房切除术而言，其受到社会经济优势和教育程度的影响。
