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“这是个情绪化的宝贝”:癌症遗传携带者家庭对遗传性乳腺癌和卵巢癌风险的计划生育决策方式

"It was an Emotional Baby": Previvors' Family Planning Decision-Making Styles about Hereditary Breast and Ovarian Cancer Risk.

作者信息

Dean Marleah, Rauscher Emily A

机构信息

Department of Communication, The University of South Florida, 4202 E Fowler Ave CIS 3057, Tampa, FL, 33620, USA.

Department of Communication, Texas A&M University, College Station, TX, USA.

出版信息

J Genet Couns. 2017 Dec;26(6):1301-1313. doi: 10.1007/s10897-017-0069-8. Epub 2017 Jan 30.

DOI:10.1007/s10897-017-0069-8
PMID:28138923
Abstract

Women who test positive for a BRCA genetic mutation are at an increased risk for developing hereditary breast and ovarian cancer and have a 50% chance of passing on their genetic mutation to their children. The purpose of this study was to investigate how women who test positive for a BRCA mutation but have not been diagnosed with cancer make decisions regarding family planning. Analysis of interviews with 20 women revealed they engage in logical and emotional decision-making styles. Although women want to be logical to reduce their hereditary cancer risk, emotions often complicate their decision-making. Women experience fear and worry about a future cancer diagnosis, yet also desire to create a family, particularly having children through natural conception. That is, women negotiate having preventative surgeries in a logical doctor-recommended timeframe but also organize those decisions around emotional desires of motherhood. Overall, this study demonstrates the complex decisions women who test positive for a BRCA mutation must make in regards to genetic testing timing, family planning, and overall quality of life.

摘要

携带BRCA基因突变检测呈阳性的女性患遗传性乳腺癌和卵巢癌的风险增加,并且有50%的几率将基因突变遗传给子女。本研究的目的是调查BRCA基因突变检测呈阳性但尚未被诊断出患有癌症的女性如何做出计划生育决策。对20名女性的访谈分析显示,她们采用逻辑和情感相结合的决策方式。尽管女性希望保持理性以降低遗传性癌症风险,但情感因素常常使她们的决策变得复杂。女性既担心未来被诊断出患癌,又渴望组建家庭,尤其是通过自然受孕生育子女。也就是说,女性在医生建议的合理时间范围内协商进行预防性手术,但同时也会围绕为人母的情感愿望来安排这些决策。总体而言,本研究表明,携带BRCA基因突变检测呈阳性的女性在基因检测时机、计划生育和整体生活质量方面必须做出复杂的决策。

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"It was an Emotional Baby": Previvors' Family Planning Decision-Making Styles about Hereditary Breast and Ovarian Cancer Risk.“这是个情绪化的宝贝”:癌症遗传携带者家庭对遗传性乳腺癌和卵巢癌风险的计划生育决策方式
J Genet Couns. 2017 Dec;26(6):1301-1313. doi: 10.1007/s10897-017-0069-8. Epub 2017 Jan 30.
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"It's not if I get cancer, it's when I get cancer": BRCA-positive patients' (un)certain health experiences regarding hereditary breast and ovarian cancer risk.“不是我是否会患癌症,而是我何时会患癌症”:BRCA基因呈阳性的患者关于遗传性乳腺癌和卵巢癌风险的(不)确定健康经历。
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本文引用的文献

1
Reproductive Decision-Making in Women with BRCA1/2 Mutations.携带BRCA1/2基因突变女性的生殖决策
J Genet Couns. 2017 Jun;26(3):594-603. doi: 10.1007/s10897-016-0035-x. Epub 2016 Oct 28.
2
"It's not if I get cancer, it's when I get cancer": BRCA-positive patients' (un)certain health experiences regarding hereditary breast and ovarian cancer risk.“不是我是否会患癌症,而是我何时会患癌症”:BRCA基因呈阳性的患者关于遗传性乳腺癌和卵巢癌风险的(不)确定健康经历。
Soc Sci Med. 2016 Aug;163:21-7. doi: 10.1016/j.socscimed.2016.06.039. Epub 2016 Jun 23.
3
Disclosure of Positive -Mutation Status in Young Couples: The Journey From Uncertainty to Bonding Through Partner Support.
ePOWER干预措施的可接受性:管理癌症高危人群与癌症相关的不确定性并支持决策制定。
PEC Innov. 2025 May 10;6:100402. doi: 10.1016/j.pecinn.2025.100402. eCollection 2025 Jun.
4
Preimplantation genetic testing for monogenic disorders: clinical experience with BRCA1 and BRCA2 from 2010-2021.针对单基因疾病的胚胎植入前遗传学检测:2010 年至 2021 年 BRCA1 和 BRCA2 的临床经验。
J Assist Reprod Genet. 2023 Nov;40(11):2705-2713. doi: 10.1007/s10815-023-02925-6. Epub 2023 Sep 11.
5
Reproductive decision-making following the diagnosis of an inherited metabolic disorder via newborn screening in Japan: a qualitative study.日本新生儿筛查诊断出遗传性代谢疾病后的生殖决策:一项定性研究
Front Reprod Health. 2023 May 18;5:1098464. doi: 10.3389/frph.2023.1098464. eCollection 2023.
6
"Where do I go? Who do I go to?": BRCA Previvors, genetic counselors and family planning.“我该何去何从?我该求助于谁?”:BRCA基因携带者、遗传咨询师与计划生育
PEC Innov. 2023 Apr 23;2:100157. doi: 10.1016/j.pecinn.2023.100157. eCollection 2023 Dec.
7
Feasibility, acceptability, and outcomes of a pilot intervention facilitating communication about family building between patients with inherited cancer risk and their partners.一项试点干预措施促进遗传性癌症风险患者与其伴侣之间关于生育问题沟通的可行性、可接受性及结果
PEC Innov. 2022 Jun 1;1:100055. doi: 10.1016/j.pecinn.2022.100055. eCollection 2022 Dec.
8
Providers' perspectives on the reproductive decision-making of BRCA-positive women.提供者对 BRCA 阳性女性生殖决策的看法。
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Previvorship Posting: Why Breast Cancer Previvors Share Their Stories on Social Media.生存者发帖:为什么乳腺癌生存者在社交媒体上分享自己的故事。
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年轻夫妇中阳性突变状态的披露:从不确定性到通过伴侣支持建立联系的历程。
Fam Syst Health. 2008;26(3):296-316. doi: 10.1037/a0012914.
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'The BRCA clock is ticking!': negotiating medical concerns and reproductive goals in preimplantation genetic diagnosis.“BRCA基因检测的时间紧迫!”:在植入前基因诊断中协调医疗问题与生育目标
Hum Fertil (Camb). 2014 Sep;17(3):159-64. doi: 10.3109/14647273.2014.940003. Epub 2014 Aug 8.
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Breast cancer, BRCA mutations, and attitudes regarding pregnancy and preimplantation genetic diagnosis.乳腺癌、BRCA 突变以及关于妊娠和植入前基因诊断的态度
Oncologist. 2014 Aug;19(8):797-804. doi: 10.1634/theoncologist.2014-0057. Epub 2014 Jun 20.
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The Genetic Testing Experience of BRCA-Positive Women: Deciding Between Surveillance and Surgery.BRCA基因检测呈阳性女性的基因检测经历:在监测与手术之间做出抉择
Qual Health Res. 2014 Jun;24(6):773-789. doi: 10.1177/1049732314529666. Epub 2014 Apr 18.
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Pre-test genetic counseling services for hereditary breast and ovarian cancer delivered by non-genetics professionals in the state of Florida.佛罗里达州非遗传学专业人员提供的遗传性乳腺癌和卵巢癌的检测前遗传咨询服务。
Clin Genet. 2015 May;87(5):473-7. doi: 10.1111/cge.12405. Epub 2014 May 9.
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Talking about familial breast cancer risk: topics and strategies to enhance mother-daughter interactions.谈家族性乳腺癌风险:增进母女互动的话题与策略
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9
Oncofertility resources at NCI-designated comprehensive cancer centers.NCI 指定的综合性癌症中心的肿瘤生育资源。
J Natl Compr Canc Netw. 2013 Dec 1;11(12):1504-9. doi: 10.6004/jnccn.2013.0177.
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J Natl Cancer Inst. 2013 Jun 5;105(11):812-22. doi: 10.1093/jnci/djt095. Epub 2013 Apr 29.