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Young people’s experiences of a CDH1 pathogenic variant: Decision-making about gastric cancer risk management
Journal of Genetic Counseling ( IF 1.9 ) Pub Date : 2021-07-15 , DOI: 10.1002/jgc4.1478
Cass Hoskins 1, 2 , Erin Tutty 1 , Rebecca Purvis 1, 2 , Mary Shanahan 1, 2 , Alex Boussioutas 1, 2, 3, 4, 5 , Laura Forrest 1, 2, 6
Affiliation  

The most effective option for gastric cancer risk management in individuals with a CDH1 germline pathogenic or likely pathogenic variant (PV) in Australia is prophylactic total gastrectomy (PTG). There is, however, increasing confidence in endoscopic surveillance as a risk management strategy thus affording individuals with a CDH1 PV with challenging decisions regarding their gastric cancer risk management. For young people, this decision-making comes at a complex development stage of emerging and young adulthood. This study aims to explore the factors that influence young people's decision-making about their gastric cancer risk management due to a CDH1 PV. Potential participants were identified and approached through the Parkville Familial Cancer Centre in Melbourne, Australia. Thematic analysis was used to interpret and analyze the data. Qualitative interviews were conducted with 13 people with a CDH1 PV aged 18 to 39 years, inclusive. The interviews found that participants’ familial and shared experiences of cancer and risk management, perceived tolerance of uncertainty, and desire for control over their cancer risk were fundamental in their decision-making about their gastric cancer risk management. The participants’ young adult life stage was also deemed particularly important in decisions about the timing of PTG. The findings of this study are vital to inform decisional counseling discussions with this unique population.

中文翻译:

年轻人对 CDH1 致病性变异的体验:关于胃癌风险管理的决策

在澳大利亚,对具有CDH1种系致病性或可能致病性变异 (PV) 的个体进行胃癌风险管理的最有效选择是预防性全胃切除术 (PTG)。然而,人们越来越相信内镜监测作为一种风险管理策略,从而为患有CDH1 PV 的个体提供了有关其胃癌风险管理的具有挑战性的决定。对于年轻人来说,这种决策是在新兴和年轻成年的复杂发展阶段做出的。本研究旨在探讨因CDH1而影响年轻人胃癌风险管理决策的因素。光伏。通过澳大利亚墨尔本的帕克维尔家族癌症中心确定并接触了潜在的参与者。主题分析用于解释和分析数据。对 13 名CDH1 PV 年龄在 18 至 39 岁(含)的人进行了定性访谈。访谈发现,参与者在癌症和风险管理方面的家庭和共同经历、对不确定性的感知容忍度以及控制癌症风险的愿望是他们制定胃癌风险管理决策的基础。参与者的年轻成年生活阶段也被认为在关于 PTG 时间的决定中特别重要。这项研究的结果对于与这一独特人群进行决策咨询讨论至关重要。
更新日期:2021-07-15
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