Geburtshilfe Frauenheilkd 2018; 78(10): 199-200
DOI: 10.1055/s-0038-1671357
Poster
Freitag, 02.11.2018
Gynäkologische Onkologie VIII
Georg Thieme Verlag KG Stuttgart · New York

Prophylactic surgery among germline TP53 mutation carriers in Germany – a multicentric observational study

N Rippinger
1  University Hospital Heidelberg, Department of Gynaecology and Obstetrics, Heidelberg, Deutschland
,
MW Haun
2  University Hospital Heidelberg, Department of General Internal Medicine and Psychosomatics, Heidelberg, Deutschland
,
C Fischer
3  University Hospital Heidelberg, Institute of Human Genetics, Heidelberg, Deutschland
,
K Rhiem
4  University Hospital of Cologne, Department of Gynaecology and Obstetrics, Cologne, Deutschland
,
A Hübbel
4  University Hospital of Cologne, Department of Gynaecology and Obstetrics, Cologne, Deutschland
,
S Grill
5  Klinikum rechts der Isar; Technical University of Munich, Department of Gynaecology and Centre for Hereditary Breast and Ovarian Cancer, Munich, Deutschland
,
M Kiechle
5  Klinikum rechts der Isar; Technical University of Munich, Department of Gynaecology and Centre for Hereditary Breast and Ovarian Cancer, Munich, Deutschland
,
FW Cremer
6  SYNLAB Centre for Human Genetics, Mannheim, Deutschland
,
K Kast
7  Medical Faculty and University Hospital Carl Gustav Carus, Technical University Dresden, Department of Gynaecology and Obstetrics, Dresden, Deutschland
8  National Center for Tumor Diseases, Partner Site Dresden, Dresden, Deutschland
9  German Cancer Consortium (DKTK) and German Cancer Research Center (DKFZ), Dresden, Deutschland
,
HP Nguyen
10  University Hospital of Tuebingen, Institute of Medical Genetics and Applied Genomics, Tuebingen, Deutschland
11  University of Bochum, Department of Human Genetics, Bochum, Deutschland
,
N Ditsch
12  Ludwig-Maximilians University, University Hospital of Munich, Department of Gynaecology and Obstetrics, Munich, Deutschland
,
P Kratz
13  Hannover Medical School, Paediatric Haematology and Oncology, Hannover, Deutschland
,
S Pfister
14  Hopp Children's Cancer Centre at the NCT Heidelberg (KiTZ), Heidelberg, Deutschland
15  German Cancer Consortium (DKTK) and German Cancer Research Center (DKFZ), Division of Paediatric Neurooncology, Heidelberg, Deutschland
16  University Hospital Heidelberg, Department of Paediatric Oncology, Hematology and Immunology, Heidelberg, Deutschland
,
KW Pajtler
14  Hopp Children's Cancer Centre at the NCT Heidelberg (KiTZ), Heidelberg, Deutschland
15  German Cancer Consortium (DKTK) and German Cancer Research Center (DKFZ), Division of Paediatric Neurooncology, Heidelberg, Deutschland
16  University Hospital Heidelberg, Department of Paediatric Oncology, Hematology and Immunology, Heidelberg, Deutschland
,
D Speiser
17  University Hospital Charité Berlin, Department of Gynaecology and Obstetrics, Berlin, Deutschland
,
S Seitz
18  University Medical Centre Regensburg, Department of Gynaecology and Obstetrics, Regensburg, Deutschland
,
H Glimm
19  National Center for Tumor Diseases (NCT), Heidelberg, Deutschland
,
I Maatouk
2  University Hospital Heidelberg, Department of General Internal Medicine and Psychosomatics, Heidelberg, Deutschland
,
A Hahne
20  BRCA Network, Hannover, Deutschland
,
C Sutter
21  University Hospital Heidelberg, Department of Human Genetics, Heidelberg, Deutschland
,
RK Schmutzler
4  University Hospital of Cologne, Department of Gynaecology and Obstetrics, Cologne, Deutschland
,
N Dikow
21  University Hospital Heidelberg, Department of Human Genetics, Heidelberg, Deutschland
,
C Sohn
1  University Hospital Heidelberg, Department of Gynaecology and Obstetrics, Heidelberg, Deutschland
,
S Schott
1  University Hospital Heidelberg, Department of Gynaecology and Obstetrics, Heidelberg, Deutschland
› Author Affiliations
Further Information

Publication History

Publication Date:
20 September 2018 (online)

 

Objective:

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.

Methods:

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.

Results:

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.

Perspective:

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.