Hereditary Cancer Risk

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.

Based on literature and interviews with affected individuals and health care professionals, we have developed a preliminary questionnaire targeting the 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.

Currents status:

Phase 3b (preliminary psychometric evaluation) recruitment is ongoing

• Recruitment closure phase 3b in spring 2026
• Publication of phase 3b results

Initiation of a phase 4 international validation study by end of 2026

To enlarge our sample in preparation for phase 4, we are looking for new collaborators, if you are interested please contact the study coordinator (veronika.engele@i-med.ac.at).

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.