Frebourg, T.; Department of Genetics, Rouen University Hospital and Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Rouen, France
Lagercrantz, S. B.; Hereditary Cancer Unit, Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
Oliveira, C.; i3S—Instituto de Investigação e Inovação em Saúde & Institute of Molecular Pathology and Immunology of the University of Porto, and Porto Comprehensive Cancer Center, Porto, Portugal
Magenheim, R.; Community Representative, Berlin, Germany
Evans, D. G.; Division of Evolution and Genomic Sciences, Manchester Centre for Genomic Medicine, University of Manchester, MAHSC, St Mary’s Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom, Genomic Medicine, Central Manchester Foundation Trust, Manchester, United Kingdom
Hoogerbrugge, N.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
Ligtenberg, M.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands
Oostenbrink, R.; Erasmus Medical Center, Rotterdam, Netherlands
Sijmons, R.; University Medical Center, Groningen, Netherlands
Woodward, E.; Genomic Medicine, Central Manchester Foundation Trust, Manchester, United Kingdom
Tischkowitz, M.; Genomic Medicine, Central Manchester Foundation Trust, Manchester, United Kingdom
Maher, E.; Genomic Medicine, Central Manchester Foundation Trust, Manchester, United Kingdom
Ferner, R. E.; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge University Hospital NHS Foundation Trust, Cambridge, United Kingdom
Aretz, S.; Guy’s and St. Thomas’ NHS Foundation Trust, London, United Kingdom
Spier, I.; University Hospital Bonn, Bonn, Germany
Holinski-Feder, E.; Department of Genetics, Rouen University Hospital and Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Rouen, France
Frebourg, T.; Department of Genetics, Rouen University Hospital and Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Rouen, France
Houdayer, C.; Department of Genetics, Rouen University Hospital and Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Rouen, France
Colas, C.; Hereditary Cancer Syndrome Center Dresden, Dresden, Germany
Wolkenstein, P.; Department of Genetics, Rouen University Hospital and Inserm U1245, Normandie University, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, Rouen, France
Bours, Vincent ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Génétique humaine
Legius, E.; University Hospital Henri Mondor-National Referral Center, Créteil, France
Poppe, B.; University Hospital, Liege, Belgium
Claes, K.; University Hospital, Liege, Belgium
de Putter, R.; University Hospital, Liege, Belgium
Guillermo, I. B.; University Hospital Leuven, Leuven, Belgium
Capella, G.; University Hospital Leuven, Leuven, Belgium
Vidal, J. B.; University Hospital Leuven, Leuven, Belgium
Lázaro, C.; University Hospital Leuven, Leuven, Belgium
Balmaña, J.; University Hospital Leuven, Leuven, Belgium
Hernandez, H. S.; Ghent University Hospital, Ghent, Belgium
Teixeira, M.; i3S—Instituto de Investigação e Inovação em Saúde & Institute of Molecular Pathology and Immunology of the University of Porto, and Porto Comprehensive Cancer Center, Porto, Portugal
Tham, E.; Hereditary Cancer Unit, Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
Jan, L.; lnstitut Catala d’Oncologia, Hospital Universitari Germans Trias i Pujol y ICO Badalona, Barcelona, Spain
Ertmanska, K.; lnstitut Catala d’Oncologia, Hospital Universitari Germans Trias i Pujol y ICO Badalona, Barcelona, Spain
Melegh, B.; Hospital Sant Joan de Déu, Barcelona, Spain
Krajc, M.; i3S- Instituto de Investigação e Inovação em Saúde & Institute of Molecular Pathology and Immunology of the University of Porto, and Porto Comprehensive Cancer Center, Porto, Portugal
Blatnik, A.; i3S- Instituto de Investigação e Inovação em Saúde & Institute of Molecular Pathology and Immunology of the University of Porto, and Porto Comprehensive Cancer Center, Porto, Portugal
Peltonen, S.; Hereditary Cancer Unit, Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
Hietala, M.; Hereditary Cancer Unit, Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
Kratz CP, Achatz MI, Brugières L, Frebourg T, Garber JE, Greer MC, et al. Cancer screening recommendations for individuals with Li-Fraumeni syndrome. Clin Cancer Res. 2018;23:e38–45. DOI: 10.1158/1078-0432.CCR-17-0408
Frebourg T, Bajalica Lagercrantz S, Oliveira C, Magenheim R, Evans DG. European Reference Network GENTURIS. Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes. Eur J Hum Genet. 2020. 10.1038/s41431-020-0638-4.
Mirabello L, Yeager M, Mai PL, Gastier-Foster JM, Gorlick R, Khanna C, et al. Germline TP53 variants and susceptibility to osteosarcoma. J Natl Cancer Inst. 2015;107:djv101. DOI: 10.1093/jnci/djv101
Mai PL, Best AF, Peters JA, DeCastro RM, Khincha PP, Loud JT, et al. Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. Cancer. 2016;122:3673–81. DOI: 10.1002/cncr.30248
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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. DOI: 10.1158/0008-5472.CAN-19-0728
Orr BA, Clay MR, Pinto EM, Kesserwan C. An update on the central nervous system manifestations of Li-Fraumeni syndrome. Acta Neuropathol. 2020;139:669–87. DOI: 10.1007/s00401-019-02055-3
Wong P, Verselis SJ, Garber JE, Schneider K, DiGianni L, Stockwell DH, et al. Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome. Gastroenterology. 2006;130:73–9. DOI: 10.1053/j.gastro.2005.10.014
Yurgelun MB, Masciari S, Joshi VA, Mercado RC, Lindor NM, et al. Germline TP53 mutations in patients with early-onset colorectal cancer in the colon cancer family registry. JAMA Oncol. 2015;1:214–21. DOI: 10.1001/jamaoncol.2015.0197
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