Hereditary Cancer Risk
Project summary
The identification of hereditary genetic variations associated with increased cancer risk – so called Hereditary Cancer (HC) – have become an integral part of medical oncology. Best-known examples are the Lynch Syndrome, hereditary breast- and ovarian cancer (BRCA1/ 2) or Li-Fraumeni syndrome.
The primary objective of this project is the development of a multi-lingual EORTC questionnaire for the assessment of the quality of life of individuals diagnosed with a hereditary cancer predisposition with or without a previous cancer diagnosis.
Achievements
Based on literature and interviews with affected individuals and health care professionals, we have developed a preliminary questionnaire targeting on QOL of individuals with a hereditary cancer predisposition (phase 1/2).
The preliminary questionnaire has been pretested (phase 3a) and further adapted based on quantitative results and qualitative feedback. The resulting questionnaire is now further evaluated in phase 3b.
Current status:
Phase 3b (preliminary psychometric evaluation) preparations are ongoing in most centers; recruitment has started in UK and Innsbruck
Future plans
- Start of phase 3b by beginning of 2025
- Publication of phase 1-3
- Initiation of a phase 4 international validation study
To enlarge our sample, we are looking for new collaborators. If you are interested please contact the study coordinator: veronika.engele@i-med.ac.at
For patients
A small percentage of cancer diseases originate from hereditary genetic mutations. Individuals carrying these mutations, with and without a cancer disease, experience specific impairments of their quality of life. We are developing a questionnaire for assessing the quality of life of these individuals to support their clinical care as well as the research in this field.