Contralateral Risk-Reducing Mastectomy in Breast Cancer Patients Who Undergo Multigene Panel Testing.
Contralateral Risk-Reducing Mastectomy in Breast Cancer Patients Who Undergo Multigene Panel Testing.
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DOI：
10.1245/s10434-020-08889-6
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发表时间：
2020-11
影响因子：
3.7
通讯作者：
Bedrosian I
中科院分区：
文献类型：
--
作者：
Murphy BL;Yi M;Arun BK;Gutierrez Barrera AM;Bedrosian I
越来越多的乳腺癌患者正在接受扩大的基因检测，并被确定为生殖系突变携带者。我们试图确定对侧风险降低乳房切除术（CRRM）的各种生殖细胞突变的患者的比率。确定了2014年1月1日至2019年8月1日期间在我们的学术机构接受多基因面板检测的所有≥18岁单侧乳腺癌女性。从病历中确定人口统计学、肿瘤和治疗变量。进行多变量分析以比较与CRRM性能相关的因素。我们确定了1613例患者，其中28.1%有致病性变异，40.1%有不确定意义的变异（VUS）。总体而言，420例患者（26.0%）接受了CRRM。多因素分析显示，与CRRM相关的因素包括年龄<50岁（OR 3.8，95% CI 3.0，5.0），人种（OR 0.5 [95% CI 0.3，0.7]和0.4 [95% CI 0.2，0.7]）分别针对黑人和亚洲女性与白色女性）以及存在任何种系突变或VUS，OR为13.2（95% CI 8.7，20.2），非BRCA生殖系突变为3.9（95% CI 2.7，5.8），VUS为1.8（95% CI 1.3，2.6）。在接受多基因面板测试的乳腺癌患者中，相当数量的具有致病性非BRCA生殖系发现的女性选择CRRM。鉴于BRCA 1/2以外的大多数致病性突变的女性患对侧乳腺癌的风险仍然很难确定，这些数据对风险咨询和确定该人群患对侧乳腺癌的真实风险具有重要意义。
An increasing number of breast cancer patients are undergoing expanded genetic testing and are being identified as germline mutation carriers. We sought to determine rates of contralateral risk reducing mastectomy (CRRM) in patients with various germline mutations. All women ≥18 years-of-age with unilateral breast cancer who underwent multigene panel testing between 1/1/2014–8/1/2019 at our academic institution were identified. Demographic, tumor, and treatment variables were identified from the medical record. Multivariable analyses were performed to compare factors associated with performance of CRRM. We identified 1613 patients, of whom 28.1% had a pathogenic variant and 40.1% had variants of uncertain significance (VUS). Overall, 420 patients (26.0%) underwent a CRRM. On multivariable analysis, factors associated with CRRM included age <50 years (OR 3.8, 95% CI 3.0, 5.0), race (OR 0.5 [95% CI 0.3, 0.7] and 0.4 [95% CI 0.2, 0.7]) for Black and Asian women respectively vs White women) and the presence of any germline mutation or VUS with OR of 13.2 (95% CI 8.7, 20.2) for BRCA 1/2, 3.9 (95%CI 2.7, 5.8) for non-BRCA germline mutation and 1.8 (95% CI 1.3, 2.6) for VUS. In breast cancer patients who undergo multi-gene panel testing, a sizeable number of women with pathogenic non-BRCA germline findings are opting for CRRM. Given that the risk of contralateral breast cancer in women with most pathogenic mutations other than BRCA 1/2 remains poorly characterized, these data have implications for risk counseling and for ascertaining the true risks of contralateral breast cancer in this population.
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影响因子：
2.6
作者：
Bernstein JL;WECARE Study Collaborative Group;Concannon P
通讯作者：
Concannon P
影响因子：
6.4
作者：
Heemskerk-Gerritsen, Bernadette A. M.;Rookus, Matti A.;Seynaeve, Caroline
通讯作者：
Seynaeve, Caroline
影响因子：
120.7
作者：
Kuchenbaecker, Karoline B.;Hopper, John L.;Antoniou, Antonis C.
通讯作者：
Antoniou, Antonis C.
影响因子：
45.3
作者：
Kurian, Allison W.;Li, Yun;Katz, Steven J.
通讯作者：
Katz, Steven J.
影响因子：
3.7
作者：
Chang, Jenny;Seng, Sirivan;Lum, Sharon S.
通讯作者：
Lum, Sharon S.