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BRCA1/2 基因突变与拉丁裔妇女预防性双侧输卵管卵巢切除术风险降低:UPTAKE 研究。

BRCA1/2 mutations and risk-reducing bilateral salpingo-oophorectomy among Latinas: The UPTAKE study.

机构信息

Lombardi Comprehensive Cancer Center and Fisher Center for Hereditary Cancer and Clinical Genomics Research, Georgetown University, Washington, DC, USA.

Dana-Farber Cancer Institute, Boston, MA, USA.

出版信息

J Genet Couns. 2021 Apr;30(2):383-393. doi: 10.1002/jgc4.1322. Epub 2020 Oct 3.

Abstract

Bilateral salpingo-oophorectomy (BSO) is a risk management approach with strong evidence of mortality reduction for women with germline mutations in the tumor suppressor genes BRCA1 and BRCA2 (BRCA1/2). Few studies to date have evaluated uptake of BSO in women from diverse racial and ethnic backgrounds who carry BRCA1/2 mutations. The objective of the UPTAKE study was to explore rates and predictors of risk-reducing BSO among Latinas affected and unaffected with breast cancer who had a deleterious BRCA1/2 mutation. We recruited 100 Latina women with deleterious BRCA1/2 mutations from community hospitals, academic health systems, community, and advocacy organizations. Women completed interviews in Spanish or English. We obtained copies of genetic test reports for participants who provided signed medical release. After performing threefold cross-validation LASSO for variable selection, we used multiple logistic regression to identify demographic and clinical predictors of BSO. Among 100 participants, 68 had undergone BSO at the time of interview. Of these 68, 35 were US-born (61% of all US-born participants) and 33 were not (77% of the non-US-born participants). Among Latinas with BRCA1/2 mutations, older age (p = 0.004), personal history of breast cancer (p = 0.003), higher income (p = 0.002), and not having a full-time job (p = 0.027) were identified as variables significantly associated with uptake of BSO. Results suggest a high rate of uptake of risk-reducing BSO among a sample of Latinas with BRCA1/2 mutations living in the US. We document factors associated with BSO uptake in a diverse sample of women. Relevant to genetic counseling, our findings identify possible targets for supporting Latinas' decision-making about BSO following receipt of a positive BRCA1/2 test.

摘要

双侧输卵管卵巢切除术 (BSO) 是一种风险管理方法,具有很强的降低携带 BRCA1 和 BRCA2 (BRCA1/2) 种系突变的女性死亡率的证据。迄今为止,很少有研究评估来自不同种族和族裔背景的携带 BRCA1/2 突变的女性对 BSO 的接受程度。UPTAKE 研究的目的是探讨在患有乳腺癌且携带有害 BRCA1/2 突变的拉丁裔女性中,降低风险的 BSO 率及其预测因素。我们从社区医院、学术卫生系统、社区和倡导组织招募了 100 名携带有害 BRCA1/2 突变的拉丁裔女性。女性以西班牙语或英语完成访谈。我们为签署了医疗许可的参与者获取了基因检测报告的副本。在进行三次交叉验证 LASSO 进行变量选择后,我们使用多变量逻辑回归来确定 BSO 的人口统计学和临床预测因素。在 100 名参与者中,有 68 人在接受采访时已接受 BSO。其中 35 人是美国出生的(所有美国出生的参与者的 61%),33 人不是(非美国出生的参与者的 77%)。在携带 BRCA1/2 突变的拉丁裔女性中,年龄较大(p=0.004)、个人乳腺癌病史(p=0.003)、较高收入(p=0.002)和没有全职工作(p=0.027)被确定为与 BSO 接受率显著相关的变量。结果表明,在美国生活的携带 BRCA1/2 突变的拉丁裔女性中,BSO 的接受率很高。我们记录了与 BSO 接受率相关的因素,这些因素在一个多样化的女性样本中存在。与遗传咨询相关,我们的研究结果确定了在接受 BRCA1/2 测试阳性后支持拉丁裔女性关于 BSO 的决策的可能目标。

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