Hereditary Cancer Predisposition Syndrome

Gender Neutral
Type Module
Testing Phase III - in development
Principal investigator(s)
Anne Oberguggenberger
Principal Investigator
Medical University of Innsbruck
Innsbruck, Austria
, Vassilios Vassiliou
Principal Investigator
Bank of Cyprus Oncology Centre
Limassol, Cyprus
Study coordinator(s)
Veronika Engele
Principal Investigator
Medical University of Innsbruck
Innsbruck, Austria

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 at risk for an HC with or without a previous cancer diagnosis.


After an extensive systematic literature review on quality of life-altering issues and experiences of individuals at risk for an HC, an issue list was finalized and rated by patients and health care professionals alike. Based on these ratings, the 75 most relevant QOL issues were chosen and converted into questions with the format and time frame compatible with the EORTC QLQ-C30.

Phase II is about to be completed (finalization of the provisional item list).

We have completed phases I-II and developed a preliminary questionnaire targeting on QOL in counselees for hereditary cancer

Current status:
We are currently in phase 3a of the project; patient recruitment is about to start in the collaborating centers and already completed in the PI center in Innsbruck.

Future plans

  • Completion of phase 3 by end 2024
  • Publication of phase 1-3
  • Initiation of a phase IV international validation study

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.