Evaluation of cancer prevention habits in germline TP53 mutation carriers in Germany – a multicentric observational study about acceptance, adherence of surveillance modalities in adulthood

Objective:

Li-Fraumeni syndrome is a rare autosomal dominant cancer predisposition syndrome caused by germline TP53 mutations with a lifetime cancer risk of up to 90%. Complex, intense and costly surveillance programs are recommended to mutation carriers, with yearly over 18 interventions for early cancer detection, including whole bodyMRI. To date, feasibility, acceptance and adherence to such program in Germany have not been addressed. This study aims at identifying factors to optimize care in times of increasing genetic testing.

Methods:

A quadruplet questionnaire evaluating socio-demographics, cancer history, surveillance participation, reasons for non-adherence and distress was sent to 78 TP53 mutation carriers from eleven centres between December 2016 – January 2018.

Results:

42 responders (54%; 40 ♀, 2 ♂) aged 41.3 ± 12.6 were mostly (88%) affected by at least one cancer, of those 32% with multiple cancers and women mostly with BC (89%). Adherence to recommended surveillance modalities was rather high (76%), especially among former cancer patients. Organization of care was not only difficult, but a burden for most participants and occasionally linked to insurance difficulties. Individual distress was high (88%) as well as worries about family members and children (78%).

Perspective:

TP53 mutation carriers face a highly-elevated cancer risk justifying complex surveillance regimes causing high efforts and distress for affected families. The establishment of a structured, interdisciplinary program is needed to reduce the organizational burden and facilitate access to surveillance measures. Psycho-oncological support needs to be offered as part of the program. Furthermore, structured assessment allows to improve health care in TP53 carriers.