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BRCA1 和 BRCA2 基因突变携带者及其他高危女性的对侧预防性乳房切除术——凯思琳·坎宁安家族乳腺癌研究联合会(kConFab)的研究

Contralateral risk-reducing mastectomy in BRCA1 and BRCA2 mutation carriers and other high-risk women in the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab).

机构信息

Division of Haematology and Medical Oncology, Peter MacCallum Cancer Centre, A'Beckett St, Melbourne, VIC, 8006, Australia.

出版信息

Breast Cancer Res Treat. 2010 Apr;120(3):715-23. doi: 10.1007/s10549-009-0497-8. Epub 2009 Aug 11.

DOI:10.1007/s10549-009-0497-8
PMID:19669874
Abstract

The purpose of this study is to determine the prevalence and predictors of contralateral risk-reducing mastectomy (CRRM) in Australasian women at high familial risk of a second primary breast cancer (BC). Participants were women with unilateral BC and a strong family history of the disease, including BRCA1/2 mutation carriers. Data were collected through interview, self-administered questionnaire and review of pathology and surgical reports. Associations between CRRM and potential predictors were assessed using multivariate logistic regression. Of 1,018 women (median follow-up 11.1 years), 154 (15%) underwent CRRM, 43% of these within 12 months of initial BC surgery. More likely to undergo CRRM were women who were younger at BC diagnosis (odds ratio [OR] = 0.94 per year of age, P < 0.001), were diagnosed more recently (OR = 1.16 per calendar year, P < 0.001), underwent mastectomy as initial definitive BC treatment (OR = 5.2, P < 0.001) and underwent risk-reducing salpingo-oophorectomy (OR = 3.4, P < 0.001). BRCA1/2 mutation status, axillary nodal status and receipt of chemotherapy were not independently associated with CRRM uptake. A contralateral BC event (invasive or in situ) occurred in 177 (20.5%) of the 864 women who did not have CRRM, compared with one chest wall event (0.6%) in the 154 women post-CRRM. The contralateral event rate was 15.1 per 1,000 women-years for non-CRRM women and 0.7 per 1,000 women-years for CRRM women; P < 0.0001. Younger women with more recently diagnosed BC treated with mastectomy are more likely to elect CRRM. Neither BRCA1/2 mutation status, nor the competing risk of BC recurrence and death, appears to influence decision making.

摘要

这项研究的目的是确定在澳大利亚有高家族第二原发乳腺癌(BC)风险的女性中,对侧降低风险的乳房切除术(CRRM)的流行率和预测因素。参与者为单侧 BC 且家族疾病史较强的女性,包括 BRCA1/2 突变携带者。通过访谈、自我管理问卷以及对病理和手术报告的审查收集数据。使用多变量逻辑回归评估 CRRM 与潜在预测因素之间的关联。在 1018 名女性(中位随访 11.1 年)中,有 154 名(43%)在初始 BC 手术后 12 个月内接受了 CRRM。更有可能接受 CRRM 的女性是 BC 诊断时年龄较小(OR=每增加 1 岁年龄降低 0.94,P<0.001)、最近诊断(OR=每年日历时间增加 1.16,P<0.001)、初始作为确定性 BC 治疗行乳房切除术(OR=5.2,P<0.001)和接受降低风险的输卵管卵巢切除术(OR=3.4,P<0.001)。BRCA1/2 突变状态、腋窝淋巴结状态和接受化疗与 CRRM 使用率无关。在未接受 CRRM 的 864 名女性中,有 177 名(20.5%)发生了对侧 BC 事件(浸润性或原位),而在 154 名接受 CRRM 的女性中,只有 1 名发生了胸壁事件(0.6%)。非 CRRM 女性的对侧事件发生率为每 1000 名女性 15.1 例,CRRM 女性为每 1000 名女性 0.7 例;P<0.0001。BRCA1/2 突变状态或 BC 复发和死亡的竞争风险似乎并未影响决策。最近诊断且接受乳房切除术的年轻 BC 女性更有可能选择 CRRM。

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