Dear families, dear colleagues,

We welcome you on our website. Cancer predisposition syndromes (CPS) are genetic conditions associated with an increased cancer risk. CPS are especially relevant for children and adolescents with cancer. We are a team of scientists and pediatric oncologists and it is our aim to advance CPS research, together with affected individuals and their families other scientists and health professionals: through Facts, Investigation, and Therapy.

Here on our website, we concisely review CPS relevant for children, including the medical background and therapeutic measures, for families affected by a CPS and for health professionals. You will also find links to support groups and relevant articles.

We would like to learn more about the cancer risks in individuals affected by a CPS and about the biology underlying cancer development in these patients. We also would like to collect data on the benefit of cancer surveillance. Therefore, we have launched a CPS registry.

We are just beginning to understand the urgent need of better cancer therapies for individuals with CPS. Therefore, it is important to further advance cancer therapies for CPS patients. We are promoting this process though our own research and by collaborating with the various childhood cancer study groups of the Society of Pediatric Oncology and Hematology.

We are just beginning to understand the important role of CPS, especially in children affected by cancer. We would like to accelerate this process. In case you have questions related to CPS or if you wish to support our work, we are looking forward to receiving your message!

Christian P. Kratz, MD                                   Stefan M. Pfister, MD

Cancer Predisposition Syndrome Registry

Genetic cancer predisposition is the most important known cause of childhood cancer. By launching the CPS-Registry, we would like to

  • define the cancer risks associated with CPS

  • investigate the mechanisms of cancer development in CPS patients

  • examine, if cancer surveillance improves the health of affected individuals.

Treating physicians, please support our work by enrolling patients into our registry. Please note, during the initial phase of our registry, only patients with Li-Fraumeni syndrome can be enrolled.

Learn more

Summary of the most established CPS

– in lay terms –

for patients and their families

Summary of the most established CPS

– scientific and detailed –

for scientists and health professionals

CPS Navigator –
from tumor to associated CPS

– diagnostic tool –

for physicians treating cancer patients

About us – our teams in Hannover and Heidelberg


Our team in Hannover is a multidisciplinary group of motivated pediatric oncologists and scientists working on the multiple medical and scientific aspects of CPS. We aim at collecting information on the mechanisms of cancer development and the cancer epidemiology and to improve the therapies for and outcomes of individuals affected by these conditions.

Learn more about our team in Hannover


The „Hopp Children’s Cancer Center at NCT Heidelberg (KiTZ)“ was founded, in order to create new ways to diagnose and treat children with cancer and in order to work towards a more precise medicine for children with cancer. Stefan Pfister directs the preclinical program. His research has substantially contributed to the current understanding on how germline genetic factors contribute to cancer, especially in children with brain tumors.

Learn more about our team in Heidelberg

News about our scientific work

Start of the “Liquid Biopsy” project

27. January 2020|

Based on the Cancer Predisposition Syndrome Registry, the Liquid Biopsy project is now starting. The aim is to detect small DNA fragments of tumor cells in the blood. In the future, this will enable the early and least invasive detection of the development and process of malignant diseases.

Integration of FAR01 in LFS-CPS-R01

21. November 2019|

The Fanconi Anaemia Registry has been affiliated to the Cancer Predisposition Syndrome Registry since January 2020. This has significantly simplified the administrative structures. However, this does not change anything for the registered patients. A click on the picture above will take you to further information about the affiliation.

LFS Family Meeting 2019

16. October 2019|

In September, the second German LFS family meeting took place in Hannover with a very positive response! 50 participants used the meeting for mutual exchange and discussions with experts. In addition, various specialist lectures were offered and many questions from those affected were discussed and clarified in a warm atmosphere.

More news about our work

Genetic Cancer Predisposition Working Group of the Society of Pediatric Oncology and Hematolgy (GPOH)

The Genetic Cancer Predisposition Working Group of the Society of Pediatric Oncology and Hematolgy is an expert committee, that focusses on CPS in children. The group has the following aims:

  • Investigating the role of germline genetic changes as the cause of childhood cancer

  • Improving the cancer surveillance, treatment and care for children with CPS

  • Investigating the biologic basis of cancer in children with CPS

We meet on a regular basis to discuss collaborative projects in order to move the field forward. We also discuss complex cases and provide second opinions. Information on our working groups can also be found on the webpage of our society.

Meet our team


Christian Kratz, Stefan Pfister

Stefan S. Bielack, Arndt Borkhardt, Ines B. Brecht, Birgit Burkhardt, Gabriele Calaminus, Klaus-Michael Debatin, Hedwig Deubzer, Uta Dirksen, Beate Dörgeloh, Martin Ebinger, Cornelia Eckert, Angelika Eggert, Miriam Erlacher, Jörg Faber, Gudrun Fleischhack, Michael C. Frühwald, Nicolas Gerber, Astrid Gnekow, Norbert Graf, Julia Hauer, Barbara Hero, Simone Hettmer, Katja von Hoff, Martin Horstmann, Björn-Ole Juhnke, Ariana Kamawal, Kornelius Kerl, Thomas Klingebiel, Udo Kontny, Uwe Kordes, Dieter Körholz, Ewa Koscielniak, Christof M. Kramm, Michaela Kuhlen, Andreas E. Kulozik, Andrea Meinhardt, Markus Metzler, Lüder H. Meyer, Olga Moser, Michaela Nathrath, Charlotte M. Niemeyer, Kristian W. Pajtler, Claudia Paret, Alexandra Russo, Stefan Rutkowski, Irene Schmid, Dominik Schneider, Reinhard Schneppenheim, Martin Schrappe, Peter Schütte, Thorsten Simon, Monika Sparber-Sauer, Arend von Stackelberg, Martin Stanulla, Brigitte Strahm, Petra Temming, Andre O. von Bueren, Peter Vorwerk, Olaf Witt, Marcin Wlodarski, Willy Wössmann, Stefanie Zimmermann

Thomas Illig, Dietmar R. Lohmann, Tim Ripperger, Brigitte Schlegelberger, Olaf Rieß, Christopher Schroeder, Doris Steinemann, Martin Zenker, Gudrun Goehring, Juliane Hoyer, Kathrin Thomay, Susanne Morlot, Lisa Pahl, Kerstin Grund, Nicola Dikow

Rita Schmutzler, Sarah Schott

Peter Kaatsch, Claudia Spix

Rainer Nustede, Dietrich von Schweinitz, Roland Kappler, Kristina Becker

Frank Wacker

Ulrich Schüller


Some cancer predisposition syndromes (CPS) increase the risk of only one type of cancer, while others do so for various types of cancer. With the CPS Navigator, we want to provide you with information on which CPSs are associated with the cancer diagnoses listed below. If you, the physician, suspect the existence of a CPS in a patient with a specific cancer diagnosis, this instrument will make it easier for you to search for the most frequent and best-known CPS for this cancer diagnosis. The list does not claim to be exhaustive, especially since the findings in this area are constantly changing.

BAP1 Tumor Predisposition Syndrome
  Gorlin Syndrome
  KRAS Mutation
  Lynch Syndrome
  POLE Mutation
  PTEN Harmatoma Tumor Syndrome
  ABCB11 (Intrahepatic Cholestasis)
  APC-Associated Adenomatous Polyposis
  CDKN2A Deficiency
  Glycogenosis Type 1
  Glycogenosis Type 3
  Pyruvate Dehydrogenase Deficiency, Leigh Syndrome
  Ruijs-Aalsfs Syndrome
  Tyrosinemia Type 1
  Fanconi Anemia
BRCA1/2 mutation
CDH1 mutation
  Fanconi anemia
  Li-Fraumeni Syndrome
PALB2 mutation
RAD51C/RAD51D mutation
  BAP1 Tumor Predisposition Syndrome
BRCA2 mutation
  CDK4 Deficiency
  CDKN2A Deficiency
  Dyskeratosis Congenita
  MITF Deficiency
  POLE Deficiency
  POT1 Deficiency
  Retinoblastoma Predisposition
  Infantile Myofibromatosis
  Carney Complex
  Familial Isolated Pituitary Adenoma
  Multiple Endocrine Neoplasia Type 1
  Carney Complex
  BAP1 Tumor Predisposition Syndrome
  Birt-Hogg-Dubé Syndrome
  CDKN2B Deficiency
  Hereditary Leiomyomatosis and Renal Cell Cancer
  Hereditary Pheochromocytoma/Paraganglioma Syndrome
  MET Deficiency
  PBRM1 Deficiency
  PTEN Harmatoma Tumor Syndrome
  Tuberous Sclerosis
  Von Hippel-Lindau Syndrome

Recent publications about CPS

This article, published in the Journal of Clinical Oncology, reports on a novel gene mutation, GPR161, which predisposes to medulloblastomas. It has been described that this mutation is associated with an increased risk of MB SHH tumors in infants. A click on the publication title leads you directly to the article.

In this letter-to-the-editor article, published in the journal “Haematologica”, TP53, ETV6 and RUNX1 genes were analyzed to characterize their potential impact on second neoplasia development after ALL therapy in childhood. A click on the publication title takes you directly to the article.

In this article, published in the Journal of Medical Genetics, guidelines for the diagnosis of constitutional mismatch repair-deficiency syndrome (CMMD) as differential diagnosis of neurofibromatosis type 1 were published. A click on the publication title takes you directly to the article.

This article, published in the “Journal of Clinical Oncology”, reports about the cancer risk of DICER1 mutations and lists recommendations for genetic counseling. A click on the publication title takes you directly to the article.

More publications and ressources