Schott Sarah, Vetter Lisa, Keller Monika, Bruckner Thomas, Golatta Michael, Eismann Sabine, Dikow Nicola, Evers Christina, Sohn Christof, Heil Joerg
Department of Obstetrics and Gynaecology, University Hospital Heidelberg, Im Neuenheimer Feld 440, 69120, Heidelberg, Germany.
German Cancer Consortium (DKTK), Heidelberg, Germany.
Arch Gynecol Obstet. 2017 Jun;295(6):1451-1458. doi: 10.1007/s00404-017-4376-y. Epub 2017 Apr 24.
Some women of families at high risk of breast cancer (BC) choose prophylactic mastectomy (PM) in spite of ambiguous evidence for survival benefits. The aim of this study was to investigate counselees' characteristics, decisions on PM, and frequencies of different procedures to better understand how to tailor interventions.
Eight hundred and forty-nine counselees who attended interdisciplinary consultation for genetic risk adjustment at the University Hospital Heidelberg between July 2009 and July 2011 received a tripartite questionnaire addressing sociodemographic characteristics, psychological parameters, behavioural questions, and medical data.
Six hundred and twelve of the 849 counselees (72%) returned the questionnaire. Four hundred were classified as high risk of genetic BC (19.5% BRCA mutation carriers; 4% unclassified variant (UV); and 76.5% calculated as high risk by pedigree). Two hundred and thirteen out of 400 (53%) were diagnosed with BC. Fourteen out of 54 (27%) BRCA mutation carriers with BC chose contralateral PM (CPM) compared to 24/126 (14%) without a mutation but with a personal BC history (p = 0.2175). Of those without BC, 12/27 (44%) mutation carriers opted for bilateral PM (BPM) compared to none without a mutation (p < 0.0001). Women who received any PM (CPM and BPM) reported a higher emotional burden from partners (p = 0.003) and family (p = 0.008), more worries regarding children and family (p = 0.003) and were associated with positive mutation status and higher heterozygous and lifetime risk (all p < 0.001).
Although evidence on survival benefit is unclear in several clinical situations, a relevant number of counselees opt for PM. Counselees may decide based on other reasons than survival benefit.
尽管预防性乳房切除术（PM）对生存益处的证据尚不明确，但一些乳腺癌（BC）高危家族的女性仍选择进行该手术。本研究的目的是调查咨询对象的特征、PM决策以及不同手术方式的频率，以更好地了解如何定制干预措施。
2009年7月至2011年7月期间在海德堡大学医院参加基因风险调整跨学科咨询的849名咨询对象收到了一份三方问卷，内容涉及社会人口学特征、心理参数、行为问题和医疗数据。
849名咨询对象中有612名（72%）返回了问卷。400人被归类为遗传性BC高危人群（19.5%为BRCA突变携带者；4%为未分类变异（UV）；76.5%根据家系计算为高危）。400人中有213人（53%）被诊断患有BC。54名患有BC的BRCA突变携带者中有14人（27%）选择了对侧预防性乳房切除术（CPM），而没有突变但有个人BC病史的126人中有24人（14%）选择了CPM（p = 0.2175）。在未患BC的人群中，27名突变携带者中有12人（44%）选择了双侧预防性乳房切除术（BPM），而没有突变的人无人选择BPM（p < 0.0001）。接受任何一种PM（CPM和BPM）的女性报告称，来自伴侣（p = 0.003）和家人（p = 0.008）的情感负担更大，对子女和家庭的担忧更多（p = 0.003），并且与阳性突变状态、更高的杂合性和终身风险相关（所有p < 0.001）。
尽管在几种临床情况下生存益处的证据尚不清楚，但仍有相当数量的咨询对象选择PM。咨询对象做出决定的依据可能不是生存益处。
