The identification of hereditary genetic variations associated with increased cancer risk – so called Hereditary Cancer Predisposition Syndromes (HCPS) – 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 an inter-cultural and multi-lingual EORTC questionnaire for the assessment of the quality of life of individuals at risk for an HCPS 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 HCPS, an issue list has been finalized and is being rated by patients and health care professionals alike.
The next steps include closing recruitment at collaborating centres and creating the provisional item list based on the results of patient and health care professional interviews collected in phase I.
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 treatment as well as the research in this field.