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. 2025 Sep;14(18):e71069.
doi: 10.1002/cam4.71069.

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

M Sztankay  1   2 , S Wheelwright  3 , V Vassiliou  4 , E M A Bleiker  5 , B Rahman  6 , B Holzner  1   2 , A Yener  7 , V Engele  1   2 , A S Oberguggenberger  1   2 ; EORTC Quality of Life Group
Affiliations

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

M Sztankay et al. Cancer Med. 2025 Sep.

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.

Keywords: disease susceptibility; genetic testing; health‐related quality of life; neoplasm; patient‐reported outcome; review.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Literature search and selection procedure.
FIGURE 2
FIGURE 2
Model of the HRQOL domains across the GCT trajectory.
See this image and copyright information in PMC

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