1 Familial Cancer Centre, Peter MacCallum Cancer Centre , Melbourne, Australia .
2 Sir Peter MacCallum Department of Oncology, The University of Melbourne , Melbourne, Australia .
J Adolesc Young Adult Oncol. 2018 Oct;7(5):525-545. doi: 10.1089/jayao.2018.0028. Epub 2018 Jul 13.
Li-Fraumeni syndrome (LFS), a multiorgan cancer predisposition caused by germline TP53 mutations, confers significant cancer risks for young people (15-39 years). Yet evidence of how individuals experience this condition and the psychosocial implications are lacking. Therefore, this systematic review assessed the psychosocial implications of living with, or at risk of, an autosomal dominant condition as a young person, to draw evidence that may be analogous for young people with LFS.
We conducted a systematic search for studies published in peer-reviewed journals using Medline, CINAHL, PsycINFO, and Embase databases. Findings were synthesized and are reported thematically.
We screened 352 articles and identified 39 studies, representing the perspectives of 765 young people. Most studies addressed hereditary breast and ovarian cancer (n = 22) and used qualitative methodologies (n = 35). Only one LFS study was identified, highlighting the distinct lack of psychosocial research describing experiences of young people with LFS. Translatable evidence showed that familial factors strongly influenced young people's experiences of genetic testing and their mutation status. Major adverse reactions to genetic test results were rare, although young people with a gene mutation experienced various psychosocial concerns at key developmental milestones, including family planning, developing romantic relationships, and making risk management decisions.
Young people undergoing genetic testing for inherited disease require individualized support and recognition of previous lived experiences. We recommend that longitudinal care be made available to young people with inherited disease as they reach developmental milestones that intersect with risk management, risk perception, and family formation.
李-佛美尼综合征（Li-Fraumeni syndrome，LFS）是一种由种系 TP53 突变引起的多器官癌症易感性疾病，会使年轻人（15-39 岁）面临重大的癌症风险。然而，人们对这种疾病的体验以及其心理社会影响的证据尚缺乏。因此，本系统评价评估了年轻人作为个体，在面临或有常染色体显性遗传疾病时的心理社会影响，以获得可能与 LFS 年轻人相似的证据。
我们使用 Medline、CINAHL、PsycINFO 和 Embase 数据库对同行评议期刊上发表的研究进行了系统搜索。对研究结果进行综合分析，并按主题进行报告。
我们筛选了 352 篇文章，确定了 39 项研究，代表了 765 名年轻人的观点。大多数研究涉及遗传性乳腺癌和卵巢癌（n=22），并采用定性方法（n=35）。仅确定了一项 LFS 研究，突出表明缺乏描述 LFS 年轻人经历的心理社会研究。可转化的证据表明，家族因素强烈影响了年轻人对基因检测及其突变状态的体验。虽然携带基因突变的年轻人在关键的发育里程碑上经历了各种心理社会问题，包括计划生育、发展浪漫关系和做出风险管理决策，但对基因检测结果的重大不良反应很少见。
对遗传性疾病进行基因检测的年轻人需要个体化的支持和对既往生活经历的认可。我们建议为患有遗传性疾病的年轻人提供纵向护理，因为他们会面临与风险管理、风险感知和家庭形成相交的发育里程碑。
