Evans, DGR

Evans, G

Frebourg, T

Hietala, M

Hoogerbrugge, N

Lagercrantz, SB

Ligtenberg, M

Magenheim, R

Oliveira, C

Oostenbrink, Rianne

Peltonen, S

Sijmons, R

Woodward, E

English

EUR Research Repository

European Journal of Human Geneticshttps://doi.org/10.1038/s41431-020-00710-yCORRESPONDENCEReply to Kratz et al.Thierry Frebourg 1 ● Svetlana Bajalica Lagercrantz 2 ● Carla Oliveira3 ● Rita Magenheim4 ● D. Gareth Evans 5,6 ●the European Reference Network GENTURISReceived: 5 July 2020 / Accepted: 10 July 2020© The Author(s) 2020. This article is published with open accessTo the Editor:We thank Kratz et al. for their constructive comments whichare mostly focused on the differences with the guidelineselaborated in the framework of an international consortiumcoordinated by Canadian and US teams in 2017 [1].In medical genetics, the paradigm of cystic fibrosis andCFTR-related disorders has shown that it may be appropriate,not only for health professionals but also for patients, toexpand the definition of a syndrome to a wider molecularlybased definition, in order to highlight the diversity of phe-notypes associated with germline variants. Therefore, wethink that it is indeed appropriate to expand the Li–Fraumenisyndrome (LFS) toward to a wider and molecularly basedcancer predisposition syndrome, designated heritable TP53-related cancer syndrome. We agree that the recommendationof testing patients presenting only jaw osteosarcoma is so farnot supported by published articles but only, as we indicated[2], on the experience of certain centres. Whereas we con-sidered that it was not justified at the present time to sys-tematically test all children with osteosarcoma (the mutationdetection rate being estimated up to 3.8% [3]), the recurrentidentification of germline disease-causing TP53 variants inpatients with jaw osteosarcoma, an infrequent location ascompared to long bones, lead us to formulate this recom-mendation. It seems that our colleagues have overinterpretedthe statement “Testing for disease-causing TP53 variantsshould be performed before starting treatment in order toavoid in variant carriers, if possible, radiotherapy and geno-toxic chemotherapy and to prioritize surgical treatments.” Wefully agree that, in cancer patients carrying disease-causingTP53 variants, the first priority is to effectively treat thetumours but we believe that a multidisciplinary team shoulddiscuss the risks of recurrence and subsequent primarytumours before the initiation of treatment and choose the besttherapy. For instance, after identification of a germline TP53disease-causing variant in a young woman with invasive,T1N0 breast cancer mastectomy should be offered instead ofbreast-conserving surgery followed by radiotherapy. Thepreviously published guidelines [1] recommend performing(in all germline TP53 variant carriers), a medical follow-upincluding annual whole-body MRI (WBMRI) and brain MRIstarting from the first year of age, independently of the per-sonal and medical history and type of TP53 variant. However,we must now recognize that the global penetrance of germlineTP53 variants has been overestimated, likely depending on sofar unrecognized modifying factors. More importantly, wemust be aware that only a minor fraction of germline TP53variant carriers worldwide, and in particular in the USA, havecurrently access to this intensive protocol. In our guideline,we advocate for a stratified strategy, by recommending pre-symptomatic testing and the intensive protocol in childhoodfrom birth, under the following conditions: “the index casehas developed a childhood cancer; or childhood cancers havebeen observed within the family; or this variant has alreadybeen detected in other families with childhood cancers; or thisMembers of the European Reference Network GENTURIS team arelisted below Acknowledgements.* Thierry Frebourgfrebourg@chu-rouen.fr1 Department of Genetics, Rouen University Hospital and InsermU1245, Normandy Centre for Genomic and PersonalizedMedicine, Normandie University, UNIROUEN, Rouen, France2 Hereditary Cancer Unit, Department of Clinical Genetics,Karolinska University Hospital, Stockholm, Sweden3 i3S—Instituto de Investigação e Inovação em Saúde & Institute ofMolecular Pathology and Immunology of the University of Porto,and Porto Comprehensive Cancer Center, Porto, Portugal4 Community Representative, Berlin, Germany5 Division of Evolution and Genomic Sciences, Manchester Centrefor Genomic Medicine, University of Manchester, MAHSC, StMary’s Hospital, Manchester University Hospitals NHSFoundation Trust, Manchester, UK6 Genomic Medicine, Central Manchester Foundation Trust,Manchester, UK1234567890();,:1234567890();,:variant corresponds to a dominant-negative missense variant.”However, we also carefully open the door by indicating thattesting children in families with only early-onset adult cancerscan be considered, but only after careful discussion with theparents in order to address the burden, and uncertain benefits,of surveillance in childhood [2]. Our colleagues consider thatthe surveillance interval that we propose in children for thedetection of adrenocortical carcinoma is too long, comparedto the interval previously recommended (6 vs. 3–4 months).They may be right (especially until the age 5, probably notabove the age 10), but we are not aware of studies demon-strating the additional value of performing a follow-up every3–4 months. All the studies, except one, published so far andreporting the efficiency in TP53 variant carriers of WBMRI,in terms of tumour detection rate, have been performedwithout Gadolinium enhancement, which leads to thisrecommendation [2]. In females with germline disease-causing TP53 variants, breast cancer risk increases sig-nificantly after the second decade with a peak between 30–44years and cumulative risk reaches a plateau before 60 [4–6].Therefore, we think that it is appropriate to fix an age limit forbreast MRI at 65 years. A recent review on brain tumours inTP53 variant carriers has confirmed that brain tumours pre-sent a bimodal distribution with the highest peak in youngchildren before 5 years of age and a small peak in adultsobserved between the third and fourth decades. This supportsour proposal to perform brain MRI until 50 years [7]. Finally,we confirm that the studies, which had suggested that color-ectal cancer (CRC) is associated with germline TP53 variants,suffer from certain limitations: the first [8] reported in a seriesof 397 patients, from 64 LFS families, 16 cases of CRC (4%).The lifetime risk for CRC is estimated in the general popu-lation to 4%. Furthermore, among the patients with CRC, themajority had not been tested themselves but were first- orsecond-degree relatives of TP53 variant carriers. In a secondarticle [9], the authors reported in a series of 467 patients withCRC at age 40 years or younger, six germline TP53 variantsbut examination of these variants, based on the current clas-sification criteria, shows that only two out of the six variantsmeet criteria for being classified as a class 4 or 5 variant. Athird study [10] reported colorectal tumours in 8 among 93patients with germline TP53 variants (8.6%), but the authorsdid not provide data on TP53 variants. As cancer geneticistsand oncologists, we highlight that the risk of overloading themedical follow-up in high genetic risk individuals is to alterthe compliance of the patients.In conclusion, we do not think that the European guide-lines elaborated by the ERN GENTURIS, that have beendeveloped with an active participation of patient representa-tives [2], are in opposition to the guidelines previously pub-lished [1]. They instead constitute a stratified version of theprevious ones, which may be easier to implement in differentcountries for patient benefits.The European Reference Network GENTURIS Nicoline Hoogerbrugge7,Marjolijn Ligtenberg7, Rianne Oostenbrink8, Rolf Sijmons9, GarethEvans10, Emma Woodward10, Marc Tischkowitz11, Eamonn Maher11,Rosalie E. Ferner12, Stefan Aretz13, Isabel Spier14, Verena Steinke-Lange15, Elke Holinski-Feder16, Evelin Schröck15, Thierry Frebourg16,Claude Houdayer16, Chrystelle Colas17, Pierre Wolkenstein18, VincentBours19, Eric Legius20, Bruce Poppe21, Kathleen Claes21, Robin de Put-ter21, Ignacio Blanco Guillermo22, Gabriel Capella22, Joan Brunet Vidal22,Conxi Lázaro22, Judith Balmaña22, Hector Salvador Hernandez23, CarlaOliveira24, Manuel Teixeira24, Svetlana Bajalica Lagercrantz25, EmmaTham25, Lubinski Jan26, Karolina Ertmanska26, Bela Melegh27, MatejaKrajc28, Ana Blatnik28, Sirkku Peltonen29, Marja Hietala297Department of Human Genetics, Radboud University Medical Center,Nijmegen, The Netherlands; 8Erasmus Medical Center, Rotterdam, TheNetherlands; 9University Medical Center, Groningen, The Netherlands;10Genomic Medicine, Central Manchester Foundation Trust,Manchester, UK; 11Department of Medical Genetics, National Institutefor Health Research Cambridge Biomedical Research Centre, Cam-bridge University Hospital NHS Foundation Trust, Cambridge, UK;12Guy’s and St. Thomas’ NHS Foundation Trust, London, UK; 13Uni-versity Hospital Bonn, Bonn, Germany; 14Medizinisch GenetischesZentrum, Munich, Germany; 15Hereditary Cancer Syndrome CenterDresden, Dresden, Germany; 16Department of Genetics, Rouen Uni-versity Hospital and Inserm U1245, Normandie University, UNI-ROUEN, Normandy Centre for Genomic and Personalized Medicine,Rouen, France; 17Department of Genetics, Institut Curie, Paris Scienceset Lettres Research University, Paris, France; 18University HospitalHenri Mondor-National Referral Center, Créteil, France; 19UniversityHospital, Liege, Belgium; 20University Hospital Leuven,Leuven, Belgium; 21Ghent University Hospital, Ghent, Belgium;22lnstitut Catala d’Oncologia, Hospital Universitari Germans Trias iPujol y ICO Badalona, Barcelona, Spain; 23Hospital Sant Joan de Déu,Barcelona, Spain; 24i3S- Instituto de Investigação e Inovação em Saúde& Institute of Molecular Pathology and Immunology of the Universityof Porto, and Porto Comprehensive Cancer Center, Porto, Portugal;25Hereditary Cancer Unit, Department of Clinical Genetics,Karolinska University Hospital, Stockholm, Sweden; 26PomeranianMedical University – University Clinical Hospital no 1, PomeranianMedical University, Szczecin, Poland; 27University of Pécs,Pécs, Hungary; 28Institute of Oncology, Ljubljana, Slovenia; 29TurkuUniversity Hospital, Turku, FinlandCompliance with ethical standardsConflict of interest The authors declare that they have no conflict ofinterest.Publisher’s note Springer Nature remains neutral with regard tojurisdictional claims in published maps and institutional affiliations.Open Access This article is licensed under a Creative CommonsAttribution 4.0 International License, which permits use, sharing,adaptation, distribution and reproduction in any medium or format, aslong as you give appropriate credit to the original author(s) and thesource, provide a link to the Creative Commons license, and indicate ifchanges were made. The images or other third party material in thisarticle are included in the article’s Creative Commons license, unlessindicated otherwise in a credit line to the material. If material is notincluded in the article’s Creative Commons license and your intendeduse is not permitted by statutory regulation or exceeds the permitteduse, you will need to obtain permission directly from the copyrightholder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.T. Frebourg et al.References1. Kratz CP, Achatz MI, Brugières L, Frebourg T, Garber JE, GreerMC, et al. Cancer screening recommendations for individuals withLi-Fraumeni syndrome. Clin Cancer Res. 2018;23:e38–45.2. Frebourg T, Bajalica Lagercrantz S, Oliveira C, Magenheim R,Evans DG. European Reference Network GENTURIS. Guidelinesfor the Li-Fraumeni and heritable TP53-related cancer syndromes.Eur J Hum Genet. 2020. https://doi.org/10.1038/s41431-020-0638-4.3. Mirabello L, Yeager M, Mai PL, Gastier-Foster JM, Gorlick R,Khanna C, et al. Germline TP53 variants and susceptibility toosteosarcoma. J Natl Cancer Inst. 2015;107:djv101.4. Mai PL, Best AF, Peters JA, DeCastro RM, Khincha PP, Loud JT,et al. Risks of first and subsequent cancers among TP53 mutationcarriers in the National Cancer Institute Li-Fraumeni syndromecohort. Cancer. 2016;122:3673–81.5. Amadou A, Waddington Achatz MI, Hainaut P. Revisiting tumorpatterns and penetrance in germline TP53 mutation carriers: temporalphases of Li-Fraumeni syndrome. Curr Opin Oncol. 2018;30:23–9.6. Shin SJ, Dodd-Eaton EB, Peng G, Bojadzieva J, Chen J, Amos CI,et al. Penetrance of different cancer types in families with Li-Fraumeni syndrome: a validation study using multi-center cohorts.Cancer Res. 2020;80:354–60.7. Orr BA, Clay MR, Pinto EM, Kesserwan C. An update on thecentral nervous system manifestations of Li-Fraumeni syndrome.Acta Neuropathol. 2020;139:669–87.8. Wong P, Verselis SJ, Garber JE, Schneider K, DiGianni L,Stockwell DH, et al. Prevalence of early onset colorectal cancer in397 patients with classic Li-Fraumeni syndrome. Gastro-enterology. 2006;130:73–9.9. Yurgelun MB, Masciari S, Joshi VA, Mercado RC, Lindor NM,et al. Germline TP53 mutations in patients with early-onset col-orectal cancer in the colon cancer family registry. JAMA Oncol.2015;1:214–21.10. MacFarland SP, Zelley K, Long JM, McKenna D, Mamula P,Domchek SM, et al. Earlier colorectal cancer screening may benecessary in patients with Li-Fraumeni syndrome. Gastro-enterology. 2019;15:273–4.Reply to Kratz et al.

Reply to Kratz et al

EUR Research Information PortalReply to Kratz et alPublished in:European Journal of Human GeneticsPublication status and date:Published: 01/01/2020DOI (link to publisher):10.1038/s41431-020-00710-yDocument VersionPublisher's PDF, also known as Version of recordCitation for the published version (APA):Frebourg, T., Lagercrantz, SB., Oliveira, C., Magenheim, R., Evans, DGR., Hoogerbrugge, N., Ligtenberg, M., Oostenbrink,R., Sijmons, R., Evans, G., Woodward, E., Peltonen, S., & Hietala, M. (2020). Reply to Kratz et al. European Journal ofHuman Genetics, 28(11), 1483-1485. https://doi.org/10.1038/s41431-020-00710-yLink to publication on the EUR Research Information PortalTerms and Conditions of UseExcept as permitted by the applicable copyright law, you may not reproduce or make this material available to any third partywithout the prior written permission from the copyright holder(s). 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In case of a legitimate complaint,we will make the material inaccessible and/or remove it from the website.European Journal of Human Geneticshttps://doi.org/10.1038/s41431-020-00710-yCORRESPONDENCEReply to Kratz et al.Thierry Frebourg 1 ● Svetlana Bajalica Lagercrantz 2 ● Carla Oliveira3 ● Rita Magenheim4 ● D. Gareth Evans 5,6 ●the European Reference Network GENTURISReceived: 5 July 2020 / Accepted: 10 July 2020© The Author(s) 2020. This article is published with open accessTo the Editor:We thank Kratz et al. for their constructive comments whichare mostly focused on the differences with the guidelineselaborated in the framework of an international consortiumcoordinated by Canadian and US teams in 2017 [1].In medical genetics, the paradigm of cystic fibrosis andCFTR-related disorders has shown that it may be appropriate,not only for health professionals but also for patients, toexpand the definition of a syndrome to a wider molecularlybased definition, in order to highlight the diversity of phe-notypes associated with germline variants. Therefore, wethink that it is indeed appropriate to expand the Li–Fraumenisyndrome (LFS) toward to a wider and molecularly basedcancer predisposition syndrome, designated heritable TP53-related cancer syndrome. We agree that the recommendationof testing patients presenting only jaw osteosarcoma is so farnot supported by published articles but only, as we indicated[2], on the experience of certain centres. Whereas we con-sidered that it was not justified at the present time to sys-tematically test all children with osteosarcoma (the mutationdetection rate being estimated up to 3.8% [3]), the recurrentidentification of germline disease-causing TP53 variants inpatients with jaw osteosarcoma, an infrequent location ascompared to long bones, lead us to formulate this recom-mendation. It seems that our colleagues have overinterpretedthe statement “Testing for disease-causing TP53 variantsshould be performed before starting treatment in order toavoid in variant carriers, if possible, radiotherapy and geno-toxic chemotherapy and to prioritize surgical treatments.” Wefully agree that, in cancer patients carrying disease-causingTP53 variants, the first priority is to effectively treat thetumours but we believe that a multidisciplinary team shoulddiscuss the risks of recurrence and subsequent primarytumours before the initiation of treatment and choose the besttherapy. For instance, after identification of a germline TP53disease-causing variant in a young woman with invasive,T1N0 breast cancer mastectomy should be offered instead ofbreast-conserving surgery followed by radiotherapy. Thepreviously published guidelines [1] recommend performing(in all germline TP53 variant carriers), a medical follow-upincluding annual whole-body MRI (WBMRI) and brain MRIstarting from the first year of age, independently of the per-sonal and medical history and type of TP53 variant. However,we must now recognize that the global penetrance of germlineTP53 variants has been overestimated, likely depending on sofar unrecognized modifying factors. More importantly, wemust be aware that only a minor fraction of germline TP53variant carriers worldwide, and in particular in the USA, havecurrently access to this intensive protocol. In our guideline,we advocate for a stratified strategy, by recommending pre-symptomatic testing and the intensive protocol in childhoodfrom birth, under the following conditions: “the index casehas developed a childhood cancer; or childhood cancers havebeen observed within the family; or this variant has alreadybeen detected in other families with childhood cancers; or thisMembers of the European Reference Network GENTURIS team arelisted below Acknowledgements.* Thierry Frebourgfrebourg@chu-rouen.fr1 Department of Genetics, Rouen University Hospital and InsermU1245, Normandy Centre for Genomic and PersonalizedMedicine, Normandie University, UNIROUEN, Rouen, France2 Hereditary Cancer Unit, Department of Clinical Genetics,Karolinska University Hospital, Stockholm, Sweden3 i3S—Instituto de Investigação e Inovação em Saúde & Institute ofMolecular Pathology and Immunology of the University of Porto,and Porto Comprehensive Cancer Center, Porto, Portugal4 Community Representative, Berlin, Germany5 Division of Evolution and Genomic Sciences, Manchester Centrefor Genomic Medicine, University of Manchester, MAHSC, StMary’s Hospital, Manchester University Hospitals NHSFoundation Trust, Manchester, UK6 Genomic Medicine, Central Manchester Foundation Trust,Manchester, UK1234567890();,:1234567890();,:variant corresponds to a dominant-negative missense variant.”However, we also carefully open the door by indicating thattesting children in families with only early-onset adult cancerscan be considered, but only after careful discussion with theparents in order to address the burden, and uncertain benefits,of surveillance in childhood [2]. Our colleagues consider thatthe surveillance interval that we propose in children for thedetection of adrenocortical carcinoma is too long, comparedto the interval previously recommended (6 vs. 3–4 months).They may be right (especially until the age 5, probably notabove the age 10), but we are not aware of studies demon-strating the additional value of performing a follow-up every3–4 months. All the studies, except one, published so far andreporting the efficiency in TP53 variant carriers of WBMRI,in terms of tumour detection rate, have been performedwithout Gadolinium enhancement, which leads to thisrecommendation [2]. In females with germline disease-causing TP53 variants, breast cancer risk increases sig-nificantly after the second decade with a peak between 30–44years and cumulative risk reaches a plateau before 60 [4–6].Therefore, we think that it is appropriate to fix an age limit forbreast MRI at 65 years. A recent review on brain tumours inTP53 variant carriers has confirmed that brain tumours pre-sent a bimodal distribution with the highest peak in youngchildren before 5 years of age and a small peak in adultsobserved between the third and fourth decades. This supportsour proposal to perform brain MRI until 50 years [7]. Finally,we confirm that the studies, which had suggested that color-ectal cancer (CRC) is associated with germline TP53 variants,suffer from certain limitations: the first [8] reported in a seriesof 397 patients, from 64 LFS families, 16 cases of CRC (4%).The lifetime risk for CRC is estimated in the general popu-lation to 4%. Furthermore, among the patients with CRC, themajority had not been tested themselves but were first- orsecond-degree relatives of TP53 variant carriers. In a secondarticle [9], the authors reported in a series of 467 patients withCRC at age 40 years or younger, six germline TP53 variantsbut examination of these variants, based on the current clas-sification criteria, shows that only two out of the six variantsmeet criteria for being classified as a class 4 or 5 variant. Athird study [10] reported colorectal tumours in 8 among 93patients with germline TP53 variants (8.6%), but the authorsdid not provide data on TP53 variants. As cancer geneticistsand oncologists, we highlight that the risk of overloading themedical follow-up in high genetic risk individuals is to alterthe compliance of the patients.In conclusion, we do not think that the European guide-lines elaborated by the ERN GENTURIS, that have beendeveloped with an active participation of patient representa-tives [2], are in opposition to the guidelines previously pub-lished [1]. They instead constitute a stratified version of theprevious ones, which may be easier to implement in differentcountries for patient benefits.The European Reference Network GENTURIS Nicoline Hoogerbrugge7,Marjolijn Ligtenberg7, Rianne Oostenbrink8, Rolf Sijmons9, GarethEvans10, Emma Woodward10, Marc Tischkowitz11, Eamonn Maher11,Rosalie E. Ferner12, Stefan Aretz13, Isabel Spier14, Verena Steinke-Lange15, Elke Holinski-Feder16, Evelin Schröck15, Thierry Frebourg16,Claude Houdayer16, Chrystelle Colas17, Pierre Wolkenstein18, VincentBours19, Eric Legius20, Bruce Poppe21, Kathleen Claes21, Robin de Put-ter21, Ignacio Blanco Guillermo22, Gabriel Capella22, Joan Brunet Vidal22,Conxi Lázaro22, Judith Balmaña22, Hector Salvador Hernandez23, CarlaOliveira24, Manuel Teixeira24, Svetlana Bajalica Lagercrantz25, EmmaTham25, Lubinski Jan26, Karolina Ertmanska26, Bela Melegh27, MatejaKrajc28, Ana Blatnik28, Sirkku Peltonen29, Marja Hietala297Department of Human Genetics, Radboud University Medical Center,Nijmegen, The Netherlands; 8Erasmus Medical Center, Rotterdam, TheNetherlands; 9University Medical Center, Groningen, The Netherlands;10Genomic Medicine, Central Manchester Foundation Trust,Manchester, UK; 11Department of Medical Genetics, National Institutefor Health Research Cambridge Biomedical Research Centre, Cam-bridge University Hospital NHS Foundation Trust, Cambridge, UK;12Guy’s and St. Thomas’ NHS Foundation Trust, London, UK; 13Uni-versity Hospital Bonn, Bonn, Germany; 14Medizinisch GenetischesZentrum, Munich, Germany; 15Hereditary Cancer Syndrome CenterDresden, Dresden, Germany; 16Department of Genetics, Rouen Uni-versity Hospital and Inserm U1245, Normandie University, UNI-ROUEN, Normandy Centre for Genomic and Personalized Medicine,Rouen, France; 17Department of Genetics, Institut Curie, Paris Scienceset Lettres Research University, Paris, France; 18University HospitalHenri Mondor-National Referral Center, Créteil, France; 19UniversityHospital, Liege, Belgium; 20University Hospital Leuven,Leuven, Belgium; 21Ghent University Hospital, Ghent, Belgium;22lnstitut Catala d’Oncologia, Hospital Universitari Germans Trias iPujol y ICO Badalona, Barcelona, Spain; 23Hospital Sant Joan de Déu,Barcelona, Spain; 24i3S- Instituto de Investigação e Inovação em Saúde& Institute of Molecular Pathology and Immunology of the Universityof Porto, and Porto Comprehensive Cancer Center, Porto, Portugal;25Hereditary Cancer Unit, Department of Clinical Genetics,Karolinska University Hospital, Stockholm, Sweden; 26PomeranianMedical University – University Clinical Hospital no 1, PomeranianMedical University, Szczecin, Poland; 27University of Pécs,Pécs, Hungary; 28Institute of Oncology, Ljubljana, Slovenia; 29TurkuUniversity Hospital, Turku, FinlandCompliance with ethical standardsConflict of interest The authors declare that they have no conflict ofinterest.Publisher’s note Springer Nature remains neutral with regard tojurisdictional claims in published maps and institutional affiliations.Open Access This article is licensed under a Creative CommonsAttribution 4.0 International License, which permits use, sharing,adaptation, distribution and reproduction in any medium or format, aslong as you give appropriate credit to the original author(s) and thesource, provide a link to the Creative Commons license, and indicate ifchanges were made. The images or other third party material in thisarticle are included in the article’s Creative Commons license, unlessindicated otherwise in a credit line to the material. If material is notincluded in the article’s Creative Commons license and your intendeduse is not permitted by statutory regulation or exceeds the permitteduse, you will need to obtain permission directly from the copyrightholder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.T. Frebourg et al.References1. Kratz CP, Achatz MI, Brugières L, Frebourg T, Garber JE, GreerMC, et al. Cancer screening recommendations for individuals withLi-Fraumeni syndrome. Clin Cancer Res. 2018;23:e38–45.2. Frebourg T, Bajalica Lagercrantz S, Oliveira C, Magenheim R,Evans DG. European Reference Network GENTURIS. Guidelinesfor the Li-Fraumeni and heritable TP53-related cancer syndromes.Eur J Hum Genet. 2020. https://doi.org/10.1038/s41431-020-0638-4.3. Mirabello L, Yeager M, Mai PL, Gastier-Foster JM, Gorlick R,Khanna C, et al. Germline TP53 variants and susceptibility toosteosarcoma. J Natl Cancer Inst. 2015;107:djv101.4. Mai PL, Best AF, Peters JA, DeCastro RM, Khincha PP, Loud JT,et al. Risks of first and subsequent cancers among TP53 mutationcarriers in the National Cancer Institute Li-Fraumeni syndromecohort. Cancer. 2016;122:3673–81.5. Amadou A, Waddington Achatz MI, Hainaut P. Revisiting tumorpatterns and penetrance in germline TP53 mutation carriers: temporalphases of Li-Fraumeni syndrome. Curr Opin Oncol. 2018;30:23–9.6. Shin SJ, Dodd-Eaton EB, Peng G, Bojadzieva J, Chen J, Amos CI,et al. Penetrance of different cancer types in families with Li-Fraumeni syndrome: a validation study using multi-center cohorts.Cancer Res. 2020;80:354–60.7. Orr BA, Clay MR, Pinto EM, Kesserwan C. An update on thecentral nervous system manifestations of Li-Fraumeni syndrome.Acta Neuropathol. 2020;139:669–87.8. Wong P, Verselis SJ, Garber JE, Schneider K, DiGianni L,Stockwell DH, et al. Prevalence of early onset colorectal cancer in397 patients with classic Li-Fraumeni syndrome. Gastro-enterology. 2006;130:73–9.9. Yurgelun MB, Masciari S, Joshi VA, Mercado RC, Lindor NM,et al. Germline TP53 mutations in patients with early-onset col-orectal cancer in the colon cancer family registry. JAMA Oncol.2015;1:214–21.10. MacFarland SP, Zelley K, Long JM, McKenna D, Mamula P,Domchek SM, et al. Earlier colorectal cancer screening may benecessary in patients with Li-Fraumeni syndrome. Gastro-enterology. 2019;15:273–4.Reply to Kratz et al.

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