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家族史对 BRCA 基因突变携带者选择降低风险手术的影响。

Impact of family history on choosing risk-reducing surgery among BRCA mutation carriers.

机构信息

Cedars-Sinai Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.

出版信息

Am J Obstet Gynecol. 2013 Apr;208(4):329.e1-6. doi: 10.1016/j.ajog.2013.01.026. Epub 2013 Jan 17.

Abstract

OBJECTIVE

Despite substantial survival benefits of risk-reducing mastectomy (RRM) and risk-reducing bilateral salpingo-oophorectomy (RRBSO) among BRCA mutation carriers, only a minority elect to undergo these procedures. This study investigates factors that might influence decision making regarding prophylactic surgeries among women with BRCA mutations.

STUDY DESIGN

Unaffected BRCA mutation carriers who were counseled at our center and either underwent prophylactic surgery or participated in a high-risk surveillance program at our institution from 1998 through 2010 were included in the study. Medical records were reviewed and data collected included age, family history, parity, mutation type, history of breast biopsy or cosmetic surgery, and uptake of prophylactic surgeries.

RESULTS

Among 136 unaffected women with BRCA mutations, uptake of RRM was 42% and uptake of RRBSO was 52%. Family history of first- and second-degree relatives being deceased from breast cancer was predictive of uptake of RRM and of RRBSO (odds ratio [OR], 11.0; P = .005; and OR, 15.8; P = .023, respectively), and history of a mother lost to pelvic cancer was predictive of uptake of RRBSO (OR, 7.9; P = .001). Parity also predicted both RRM and RRBSO uptake (OR, 4.2; P = .001; and OR, 5.4; P = .003, respectively). Age at the time of genetic testing and history of breast biopsy or cosmetic surgery were not predictive of RRM uptake.

CONCLUSION

Perceptions of cancer risk are heavily influenced by particular features of an individual's family history and may be motivators in preventive surgery more than actual cancer risk estimations themselves. Awareness of subtle factors beyond the statistical risk for cancers is relevant when counseling at-risk women.

摘要

目的

尽管降低风险的乳房切除术(RRM)和降低风险的双侧输卵管卵巢切除术(RRBSO)在 BRCA 基因突变携带者中具有显著的生存获益,但只有少数人选择进行这些手术。本研究调查了影响 BRCA 基因突变携带者预防性手术决策的因素。

研究设计

本研究纳入了 1998 年至 2010 年在我们中心接受咨询且在我们机构行预防性手术或参加高危监测计划的无影响 BRCA 基因突变携带者。回顾了病历并收集了数据,包括年龄、家族史、产次、突变类型、乳房活检或美容手术史以及预防性手术的接受情况。

结果

在 136 名无影响的 BRCA 基因突变携带者中,RRM 的接受率为 42%,RRBSO 的接受率为 52%。一级和二级亲属因乳腺癌死亡的家族史预测了 RRM 和 RRBSO 的接受率(比值比 [OR],11.0;P =.005;和 OR,15.8;P =.023),而母亲因盆腔癌去世的历史预测了 RRBSO 的接受率(OR,7.9;P =.001)。产次也预测了 RRM 和 RRBSO 的接受率(OR,4.2;P =.001;和 OR,5.4;P =.003)。基因检测时的年龄和乳房活检或美容手术史与 RRM 的接受率无关。

结论

个体家族史的特定特征极大地影响了对癌症风险的认知,并且可能是预防性手术的动机,而不仅仅是实际的癌症风险评估本身。在为高危女性提供咨询时,了解癌症风险之外的细微因素是相关的。

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