Hereditary Cancer Predisposition Syndrome
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.
Achievements
Based on literature and interviews with affected individuals and health care professionals, we have developed a preliminary questionnaire targeting on QOL in counselees for hereditary cancer (phase 1/2).
Translations into 9 languages completed – available languages: English, Dutch, German, Italian, Polish, Spanish, Greek, Arabic
Project phase 3a patient recruitment is ongoing
Current status:
We are currently pretesting the questionnaire (phase 3a). Patient recruitment has started, and several centers have already completed recruitment.
Future plans
– Completion of phase 3a expected by end of 2023/ early 2024
– Completion of phase 3b by end of 2024
– Publication of phase 1-3
– Initiation of a phase 4 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.