Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

Tim Ripperger; Stefan S. Bielack; Arndt Borkhardt; Ines B. Brecht; Birgit Burkhardt; Gabriele Calaminus; Klaus Michael Debatin; Hedwig Deubzer; Uta Dirksen; Cornelia Eckert; Angelika Eggert; Miriam Erlacher; Gudrun Fleischhack; Michael C. Frühwald; Astrid Gnekow; Gudrun Goehring; Norbert Graf; Helmut Hanenberg; Julia Hauer; Barbara Hero; Simone Hettmer; Katja von Hoff; Martin Horstmann; Juliane Hoyer; Thomas Illig; Peter Kaatsch; Roland Kappler; Kornelius Kerl; Thomas Klingebiel; Udo Kontny; Uwe Kordes; Dieter Körholz; Ewa Koscielniak; Christof M. Kramm; Michaela Kuhlen; Andreas E. Kulozik; Britta Lamottke; Ivo Leuschner; Dietmar R. Lohmann; Andrea Meinhardt; Markus Metzler; Lüder H. Meyer; Olga Moser; Michaela Nathrath; Charlotte M. Niemeyer; Rainer Nustede; Kristian W. Pajtler; Claudia Paret; Mareike Rasche; Dirk Reinhardt; Olaf Rieß; Alexandra Russo; Stefan Rutkowski; Brigitte Schlegelberger; Dominik Schneider; Reinhard Schneppenheim; Martin Schrappe; Christopher Schroeder; Dietrich von Schweinitz; Thorsten Simon; Monika Sparber-Sauer; Claudia Spix; Martin Stanulla; Doris Steinemann; Brigitte Strahm; Petra Temming; Kathrin Thomay; Andre O. von Bueren; Peter Vorwerk; Olaf Witt; Marcin Wlodarski; Willy Wössmann; Martin Zenker; Stefanie Zimmermann; Stefan M. Pfister; Christian P. Kratz

doi:10.1002/ajmg.a.38142

Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

Tim Ripperger, Stefan S. Bielack, Arndt Borkhardt, Ines B. Brecht, Birgit Burkhardt, Gabriele Calaminus, Klaus Michael Debatin, Hedwig Deubzer, Uta Dirksen, Cornelia Eckert, Angelika Eggert, Miriam Erlacher, Gudrun Fleischhack, Michael C. Frühwald, Astrid Gnekow, Gudrun Goehring, Norbert Graf, Helmut Hanenberg, Julia Hauer, Barbara HeroSimone Hettmer, Katja von Hoff, Martin Horstmann, Juliane Hoyer, Thomas Illig, Peter Kaatsch, Roland Kappler, Kornelius Kerl, Thomas Klingebiel, Udo Kontny, Uwe Kordes, Dieter Körholz, Ewa Koscielniak, Christof M. Kramm, Michaela Kuhlen, Andreas E. Kulozik, Britta Lamottke, Ivo Leuschner, Dietmar R. Lohmann, Andrea Meinhardt, Markus Metzler, Lüder H. Meyer, Olga Moser, Michaela Nathrath, Charlotte M. Niemeyer, Rainer Nustede, Kristian W. Pajtler, Claudia Paret, Mareike Rasche, Dirk Reinhardt, Olaf Rieß, Alexandra Russo, Stefan Rutkowski, Brigitte Schlegelberger, Dominik Schneider, Reinhard Schneppenheim, Martin Schrappe, Christopher Schroeder, Dietrich von Schweinitz, Thorsten Simon, Monika Sparber-Sauer, Claudia Spix, Martin Stanulla, Doris Steinemann, Brigitte Strahm, Petra Temming, Kathrin Thomay, Andre O. von Bueren, Peter Vorwerk, Olaf Witt, Marcin Wlodarski, Willy Wössmann, Martin Zenker, Stefanie Zimmermann, Stefan M. Pfister, Christian P. Kratz

Department of Pediatric Medicine

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213 Scopus citations

Abstract

Heritable predisposition is an important cause of cancer in children and adolescents. Although a large number of cancer predisposition genes and their associated syndromes and malignancies have already been described, it appears likely that there are more pediatric cancer patients in whom heritable cancer predisposition syndromes have yet to be recognized. In a consensus meeting in the beginning of 2016, we convened experts in Human Genetics and Pediatric Hematology/Oncology to review the available data, to categorize the large amount of information, and to develop recommendations regarding when a cancer predisposition syndrome should be suspected in a young oncology patient. This review summarizes the current knowledge of cancer predisposition syndromes in pediatric oncology and provides essential information on clinical situations in which a childhood cancer predisposition syndrome should be suspected.

Original language	English
Pages (from-to)	1017-1037
Number of pages	21
Journal	American Journal of Medical Genetics, Part A
Volume	173
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.a.38142
State	Published - 1 Apr 2017

Keywords

genetic cancer predisposition
genetic predisposition testing
genetic screening
germline mutation
hereditary cancer syndrome

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10.1002/ajmg.a.38142

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Ripperger, T., Bielack, S. S., Borkhardt, A., Brecht, I. B., Burkhardt, B., Calaminus, G., Debatin, K. M., Deubzer, H., Dirksen, U., Eckert, C., Eggert, A., Erlacher, M., Fleischhack, G., Frühwald, M. C., Gnekow, A., Goehring, G., Graf, N., Hanenberg, H., Hauer, J., ... Kratz, C. P. (2017). Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology. American Journal of Medical Genetics, Part A, 173(4), 1017-1037. https://doi.org/10.1002/ajmg.a.38142

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title = "Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology",

abstract = "Heritable predisposition is an important cause of cancer in children and adolescents. Although a large number of cancer predisposition genes and their associated syndromes and malignancies have already been described, it appears likely that there are more pediatric cancer patients in whom heritable cancer predisposition syndromes have yet to be recognized. In a consensus meeting in the beginning of 2016, we convened experts in Human Genetics and Pediatric Hematology/Oncology to review the available data, to categorize the large amount of information, and to develop recommendations regarding when a cancer predisposition syndrome should be suspected in a young oncology patient. This review summarizes the current knowledge of cancer predisposition syndromes in pediatric oncology and provides essential information on clinical situations in which a childhood cancer predisposition syndrome should be suspected.",

keywords = "genetic cancer predisposition, genetic predisposition testing, genetic screening, germline mutation, hereditary cancer syndrome",

author = "Tim Ripperger and Bielack, {Stefan S.} and Arndt Borkhardt and Brecht, {Ines B.} and Birgit Burkhardt and Gabriele Calaminus and Debatin, {Klaus Michael} and Hedwig Deubzer and Uta Dirksen and Cornelia Eckert and Angelika Eggert and Miriam Erlacher and Gudrun Fleischhack and Fr{\"u}hwald, {Michael C.} and Astrid Gnekow and Gudrun Goehring and Norbert Graf and Helmut Hanenberg and Julia Hauer and Barbara Hero and Simone Hettmer and {von Hoff}, Katja and Martin Horstmann and Juliane Hoyer and Thomas Illig and Peter Kaatsch and Roland Kappler and Kornelius Kerl and Thomas Klingebiel and Udo Kontny and Uwe Kordes and Dieter K{\"o}rholz and Ewa Koscielniak and Kramm, {Christof M.} and Michaela Kuhlen and Kulozik, {Andreas E.} and Britta Lamottke and Ivo Leuschner and Lohmann, {Dietmar R.} and Andrea Meinhardt and Markus Metzler and Meyer, {L{\"u}der H.} and Olga Moser and Michaela Nathrath and Niemeyer, {Charlotte M.} and Rainer Nustede and Pajtler, {Kristian W.} and Claudia Paret and Mareike Rasche and Dirk Reinhardt and Olaf Rie{\ss} and Alexandra Russo and Stefan Rutkowski and Brigitte Schlegelberger and Dominik Schneider and Reinhard Schneppenheim and Martin Schrappe and Christopher Schroeder and {von Schweinitz}, Dietrich and Thorsten Simon and Monika Sparber-Sauer and Claudia Spix and Martin Stanulla and Doris Steinemann and Brigitte Strahm and Petra Temming and Kathrin Thomay and {von Bueren}, {Andre O.} and Peter Vorwerk and Olaf Witt and Marcin Wlodarski and Willy W{\"o}ssmann and Martin Zenker and Stefanie Zimmermann and Pfister, {Stefan M.} and Kratz, {Christian P.}",

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Ripperger, T, Bielack, SS, Borkhardt, A, Brecht, IB, Burkhardt, B, Calaminus, G, Debatin, KM, Deubzer, H, Dirksen, U, Eckert, C, Eggert, A, Erlacher, M, Fleischhack, G, Frühwald, MC, Gnekow, A, Goehring, G, Graf, N, Hanenberg, H, Hauer, J, Hero, B, Hettmer, S, von Hoff, K, Horstmann, M, Hoyer, J, Illig, T, Kaatsch, P, Kappler, R, Kerl, K, Klingebiel, T, Kontny, U, Kordes, U, Körholz, D, Koscielniak, E, Kramm, CM, Kuhlen, M, Kulozik, AE, Lamottke, B, Leuschner, I, Lohmann, DR, Meinhardt, A, Metzler, M, Meyer, LH, Moser, O, Nathrath, M, Niemeyer, CM, Nustede, R, Pajtler, KW, Paret, C, Rasche, M, Reinhardt, D, Rieß, O, Russo, A, Rutkowski, S, Schlegelberger, B, Schneider, D, Schneppenheim, R, Schrappe, M, Schroeder, C, von Schweinitz, D, Simon, T, Sparber-Sauer, M, Spix, C, Stanulla, M, Steinemann, D, Strahm, B, Temming, P, Thomay, K, von Bueren, AO, Vorwerk, P, Witt, O, Wlodarski, M, Wössmann, W, Zenker, M, Zimmermann, S, Pfister, SM & Kratz, CP 2017, 'Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology', American Journal of Medical Genetics, Part A, vol. 173, no. 4, pp. 1017-1037. https://doi.org/10.1002/ajmg.a.38142

Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology. / Ripperger, Tim; Bielack, Stefan S.; Borkhardt, Arndt et al.
In: American Journal of Medical Genetics, Part A, Vol. 173, No. 4, 01.04.2017, p. 1017-1037.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

AU - Ripperger, Tim

AU - Bielack, Stefan S.

AU - Borkhardt, Arndt

AU - Brecht, Ines B.

AU - Burkhardt, Birgit

AU - Calaminus, Gabriele

AU - Debatin, Klaus Michael

AU - Deubzer, Hedwig

AU - Dirksen, Uta

AU - Eckert, Cornelia

AU - Eggert, Angelika

AU - Erlacher, Miriam

AU - Fleischhack, Gudrun

AU - Frühwald, Michael C.

AU - Gnekow, Astrid

AU - Goehring, Gudrun

AU - Graf, Norbert

AU - Hanenberg, Helmut

AU - Hauer, Julia

AU - Hero, Barbara

AU - Hettmer, Simone

AU - von Hoff, Katja

AU - Horstmann, Martin

AU - Hoyer, Juliane

AU - Illig, Thomas

AU - Kaatsch, Peter

AU - Kappler, Roland

AU - Kerl, Kornelius

AU - Klingebiel, Thomas

AU - Kontny, Udo

AU - Kordes, Uwe

AU - Körholz, Dieter

AU - Koscielniak, Ewa

AU - Kramm, Christof M.

AU - Kuhlen, Michaela

AU - Kulozik, Andreas E.

AU - Lamottke, Britta

AU - Leuschner, Ivo

AU - Lohmann, Dietmar R.

AU - Meinhardt, Andrea

AU - Metzler, Markus

AU - Meyer, Lüder H.

AU - Moser, Olga

AU - Nathrath, Michaela

AU - Niemeyer, Charlotte M.

AU - Nustede, Rainer

AU - Pajtler, Kristian W.

AU - Paret, Claudia

AU - Rasche, Mareike

AU - Reinhardt, Dirk

AU - Rieß, Olaf

AU - Russo, Alexandra

AU - Rutkowski, Stefan

AU - Schlegelberger, Brigitte

AU - Schneider, Dominik

AU - Schneppenheim, Reinhard

AU - Schrappe, Martin

AU - Schroeder, Christopher

AU - von Schweinitz, Dietrich

AU - Simon, Thorsten

AU - Sparber-Sauer, Monika

AU - Spix, Claudia

AU - Stanulla, Martin

AU - Steinemann, Doris

AU - Strahm, Brigitte

AU - Temming, Petra

AU - Thomay, Kathrin

AU - von Bueren, Andre O.

AU - Vorwerk, Peter

AU - Witt, Olaf

AU - Wlodarski, Marcin

AU - Wössmann, Willy

AU - Zenker, Martin

AU - Zimmermann, Stefanie

AU - Pfister, Stefan M.

AU - Kratz, Christian P.

PY - 2017/4/1

Y1 - 2017/4/1

N2 - Heritable predisposition is an important cause of cancer in children and adolescents. Although a large number of cancer predisposition genes and their associated syndromes and malignancies have already been described, it appears likely that there are more pediatric cancer patients in whom heritable cancer predisposition syndromes have yet to be recognized. In a consensus meeting in the beginning of 2016, we convened experts in Human Genetics and Pediatric Hematology/Oncology to review the available data, to categorize the large amount of information, and to develop recommendations regarding when a cancer predisposition syndrome should be suspected in a young oncology patient. This review summarizes the current knowledge of cancer predisposition syndromes in pediatric oncology and provides essential information on clinical situations in which a childhood cancer predisposition syndrome should be suspected.

AB - Heritable predisposition is an important cause of cancer in children and adolescents. Although a large number of cancer predisposition genes and their associated syndromes and malignancies have already been described, it appears likely that there are more pediatric cancer patients in whom heritable cancer predisposition syndromes have yet to be recognized. In a consensus meeting in the beginning of 2016, we convened experts in Human Genetics and Pediatric Hematology/Oncology to review the available data, to categorize the large amount of information, and to develop recommendations regarding when a cancer predisposition syndrome should be suspected in a young oncology patient. This review summarizes the current knowledge of cancer predisposition syndromes in pediatric oncology and provides essential information on clinical situations in which a childhood cancer predisposition syndrome should be suspected.

KW - genetic cancer predisposition

KW - genetic predisposition testing

KW - genetic screening

KW - germline mutation

KW - hereditary cancer syndrome

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U2 - 10.1002/ajmg.a.38142

DO - 10.1002/ajmg.a.38142

M3 - Article

C2 - 28168833

AN - SCOPUS:85012005135

SN - 1552-4825

VL - 173

SP - 1017

EP - 1037

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 4

ER -

Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

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Keywords

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