Prophylactic surgery among germline TP53 mutation carriers in Germany – a multicentric observational study
20 September 2018 (online)
Li-Fraumeni syndrome comprises a rare inherited cancer susceptibility disorder caused by germline TP53 variants. It is associated with an increased life-time risk of breast cancer (BC) in up to 79% of female carriers with a mean age of 35 at the time of onset. In healthy mutation carriers, intensified surveillance programs or prophylactic mastectomy (PM) are possible. If unilateral BC occurs, mastectomy, as a radiation-free alternative to lumpectomy, as well as contralateral PM due to an increased contralateral BC risk of up to 31% should be discussed. Data for carriers' perception are missing; this study addresses PM among female TP53 mutation carriers in Germany.
A quadruplet questionnaire addressed socio-demographics, cancer history, PM, surgical technique and its satisfaction among TP53 mutation carriers from eleven German centres between December 2016 and January 2018.
36 out of all 40 female responders, aged 40.8 ± 12.3 had a personal cancer history: 52.5% had single BC while 27.5% had multiple primary tumours including BC and 10% suffered from another solitary cancer. 45% underwent prophylactic surgery of whom 77.7% had a personal BC history. Most (57%) had chosen breast implants. 72% were highly satisfied with PM while more than 55% would re-perform surgery or recommend it to family members.
TP53 mutation carriers may opt for prophylactic mastectomy after a non-directive consultation, which should always account for age, personal and familial cancer history, as well as the counselee's preferences. However, prospective studies evaluating a potential survival benefit are needed for individual risk assessment.