SEOM clinical guideline on heritable TP53-related cancer syndrome (2022)

[1]  R. Ribeiro,et al.  Newborn Screening for the Detection of the TP53 R337H Variant and Surveillance for Early Diagnosis of Pediatric Adrenocortical Tumors: Lessons Learned and Way Forward , 2021, Cancers.

[2]  J. Thariat,et al.  Avoidance or adaptation of radiotherapy in patients with cancer with Li-Fraumeni and heritable TP53-related cancer syndromes. , 2021, The Lancet. Oncology.

[3]  S. Savage,et al.  Cancer incidence, patterns, and genotype-phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study. , 2021, The Lancet. Oncology.

[4]  D. Patel,et al.  Genetic modifiers regulating DNA replication and double strand break repair are associated with differences in mammary tumors in mouse models of Li-Fraumeni Syndrome , 2021, Oncogene.

[5]  D. Karow,et al.  Oncologically Relevant Findings Reporting and Data System (ONCO-RADS): Guidelines for the Acquisition, Interpretation, and Reporting of Whole-Body MRI for Cancer Screening. , 2021, Radiology.

[6]  P. Summers,et al.  Whole-body magnetic resonance imaging: technique, guidelines and key applications , 2021, Ecancermedicalscience.

[7]  Chang S. Chan,et al.  Genetic and stochastic influences upon tumor formation and tumor types in Li-Fraumeni mouse models , 2020, Life Science Alliance.

[8]  T. Frebourg,et al.  Blood functional assay for rapid clinical interpretation of germline TP53 variants , 2020, Journal of Medical Genetics.

[9]  R. Eeles,et al.  UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants , 2020, Journal of Medical Genetics.

[10]  E. Schröck,et al.  Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes , 2020, European Journal of Human Genetics.

[11]  A. Spurdle,et al.  Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants , 2020, medRxiv.

[12]  K. Nathanson,et al.  Frequency of radiation-induced malignancies post-adjuvant radiotherapy for breast cancer in patients with Li-Fraumeni syndrome , 2020, Breast Cancer Research and Treatment.

[13]  P. Hoff,et al.  Radiotherapy-induced malignancies in breast cancer patients with TP53 pathogenic germline variants (Li–Fraumeni syndrome) , 2019, Familial Cancer.

[14]  B. Taylor,et al.  Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group , 2019, Annals of oncology : official journal of the European Society for Medical Oncology.

[15]  P. Hainaut,et al.  Cost‐effectiveness of early cancer surveillance for patients with Li–Fraumeni syndrome , 2019, Pediatric blood & cancer.

[16]  Koichi Takahashi,et al.  Hematologic malignancies and Li–Fraumeni syndrome , 2019, Cold Spring Harbor molecular case studies.

[17]  Debora S. Marks,et al.  A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation , 2018, Molecular cell.

[18]  T. Frebourg,et al.  Contribution of genotoxic anticancer treatments to the development of multiple primary tumours in the context of germline TP53 mutations. , 2018, European journal of cancer.

[19]  R. Gelman,et al.  Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing , 2018, Journal of the National Cancer Institute.

[20]  James M. McFarland,et al.  Mutational processes shape the landscape of TP53 mutations in human cancer , 2018, Nature Genetics.

[21]  Parijatham S. Thomas,et al.  Whole body magnetic resonance imaging (WB-MRI) and brain MRI baseline surveillance in TP53 germline mutation carriers: experience from the Li-Fraumeni Syndrome Education and Early Detection (LEAD) clinic , 2018, Familial Cancer.

[22]  D. Bluemke,et al.  Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort , 2017, JAMA oncology.

[23]  David M. Thomas,et al.  Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis , 2017, JAMA oncology.

[24]  C. Gau,et al.  Somatic TP53 variants frequently confound germline testing results , 2017, Genetics in Medicine.

[25]  L. Guerrini-Rousseau,et al.  Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome , 2017, Journal of Medical Genetics.

[26]  Marc Tischkowitz,et al.  Clinical implications of germline mutations in breast cancer: TP53 , 2017, Breast Cancer Research and Treatment.

[27]  T. Druley,et al.  Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions , 2017, Clinical Cancer Research.

[28]  L. Strong,et al.  Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome , 2017, Clinical Cancer Research.

[29]  L. States,et al.  Pediatric Cancer Predisposition Imaging: Focus on Whole-Body MRI , 2017, Clinical Cancer Research.

[30]  T. Frebourg,et al.  Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage , 2017, Human molecular genetics.

[31]  David Malkin,et al.  Inherited TP53 Mutations and the Li-Fraumeni Syndrome. , 2017, Cold Spring Harbor perspectives in medicine.

[32]  T. Frebourg,et al.  Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage , 2017, Human molecular genetics.

[33]  R. Eeles,et al.  Psychosocial morbidity in TP53 mutation carriers: is whole-body cancer screening beneficial? , 2017, Familial Cancer.

[34]  P. Rosenberg,et al.  Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li‐Fraumeni syndrome cohort , 2016, Cancer.

[35]  J. Schiffman,et al.  Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. , 2016, The Lancet. Oncology.

[36]  C. Bonaïti‐pellié,et al.  Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. , 2015, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[37]  J. Beyene,et al.  Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. , 2011, The Lancet. Oncology.

[38]  M. Mathieu,et al.  Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome , 2010, Radiation oncology.

[39]  N. Aaronson,et al.  Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits , 2010, Familial Cancer.

[40]  D. Malkin,et al.  High frequency of de novo mutations in Li–Fraumeni syndrome , 2009, Journal of Medical Genetics.

[41]  Harry J de Koning,et al.  Differences between first and subsequent rounds of the MRISC breast cancer screening program for women with a familial or genetic predisposition , 2006, Cancer.

[42]  A R Padhani,et al.  Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS) , 2005, The Lancet.

[43]  S. Kato,et al.  Understanding the function–structure and function–mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[44]  D. Malkin.  Li-fraumeni syndrome. , 2001, Genes & cancer.