Quality of Life in Adult Individuals Living With or at Risk of a Hereditary Cancer Predisposition Syndrome: A Scoping Review of the Qualitative Literature

IF 3.1 2区医学 Q2 ONCOLOGY

Cancer Medicine Pub Date : 2025-09-12 DOI:10.1002/cam4.71069

M. Sztankay, S. Wheelwright, V. Vassiliou, E. M. A. Bleiker, B. Rahman, B. Holzner, A. Yener, V. Engele, A. S. Oberguggenberger, EORTC Quality of Life Group

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引用次数: 0

Abstract

Background

The in-depth understanding of the impact of a hereditary cancer predisposition syndrome (HCPS) on the health-related quality of life (HRQOL) of individuals with a hereditary cancer burden contributes to the improvement of counselling strategies as well as care planning and informs the development of patient-reported outcome measures (PROMs) for standardised HRQOL assessment. This is the first review to systematically identify and synthesise the evidence from qualitative literature on HRQOL issues relevant for adult individuals living with (the risk of) HCPS between 1991 and 2024.

Methods

Eligible studies were qualitative studies of adult individuals' experiences, including direct quotes and studies on the development or validation of health outcome measures. The literature was searched from 1991 to 2024 using the databases PubMed, CINAHL, Embase, and PsycINFO.

Results

We screened 13,410 references for study inclusion by title and abstract, resulting in the retrieval of 606 full papers. More than 6800 qualitative patient quotes were extracted and coded by four raters. Reviewed literature provided a comprehensive picture of the experience of individuals living with (the risk of) HCPS in nine identified HRQOL domains (decision-making, impact on family and social relationships, emotional response to test result, living with HCPS, perspective on life and self, HCPS-related symptoms, taking measures to prevent the development or progression of cancer, issues related to the health care system, practical issues of life).

Conclusion

Results contribute to insight on how individuals at risk cope with genetic testing and will inform the development of a PROM on their HRQOL that will be applicable for individualised patient management and service evaluation.

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患有或有患遗传性癌症易感性综合征风险的成人的生活质量：定性文献的范围综述

深入了解遗传性癌症易感综合征（HCPS）对遗传性癌症负担个体健康相关生活质量（HRQOL）的影响有助于改善咨询策略和护理计划，并为标准化HRQOL评估的患者报告结果测量（PROMs）的发展提供信息。这是第一次系统地识别和综合1991年至2024年间患有HCPS（有风险）的成年人的HRQOL问题的定性文献证据的综述。方法合格的研究是对成人经历的定性研究，包括直接引用和对健康结果测量方法的开发或验证的研究。文献从1991年到2024年使用PubMed， CINAHL， Embase和PsycINFO数据库进行检索。结果按标题和摘要筛选文献13410篇，检索全文606篇。由四位评分员提取并编码了6800多条定性患者语录。文献综述提供了HCPS患者（有风险）在9个确定的HRQOL领域(决策、对家庭和社会关系的影响、对测试结果的情绪反应、HCPS患者、对生活和自我的看法、HCPS相关症状、采取措施预防癌症发展或进展、与卫生保健系统相关的问题、生活的实际问题)。结论：研究结果有助于了解高危人群如何应对基因检测，并将为制定患者HRQOL的PROM提供信息，该PROM将适用于个性化患者管理和服务评估。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Cancer Medicine ONCOLOGY-

CiteScore

5.50

自引率

2.50%

发文量

907

审稿时长

19 weeks

期刊介绍： Cancer Medicine is a peer-reviewed, open access, interdisciplinary journal providing rapid publication of research from global biomedical researchers across the cancer sciences. The journal will consider submissions from all oncologic specialties, including, but not limited to, the following areas: Clinical Cancer Research Translational research ∙ clinical trials ∙ chemotherapy ∙ radiation therapy ∙ surgical therapy ∙ clinical observations ∙ clinical guidelines ∙ genetic consultation ∙ ethical considerations Cancer Biology: Molecular biology ∙ cellular biology ∙ molecular genetics ∙ genomics ∙ immunology ∙ epigenetics ∙ metabolic studies ∙ proteomics ∙ cytopathology ∙ carcinogenesis ∙ drug discovery and delivery. Cancer Prevention: Behavioral science ∙ psychosocial studies ∙ screening ∙ nutrition ∙ epidemiology and prevention ∙ community outreach. Bioinformatics: Gene expressions profiles ∙ gene regulation networks ∙ genome bioinformatics ∙ pathwayanalysis ∙ prognostic biomarkers. Cancer Medicine publishes original research articles, systematic reviews, meta-analyses, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented in the paper.