Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome

Signatures of mutational processes in human cancer

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Germ Line p53 Mutations in a Familial Syndrome of Breast Cancer, Sarcomas, and Other Neoplasms

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Soft-Tissue Sarcomas, Breast Cancer, and Other Neoplasms

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Germline Mutations in Predisposition Genes in Pediatric Cancer

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High Signal Intensity in the Dentate Nucleus and Globus Pallidus on Unenhanced T1-weighted MR Images: Relationship with Increasing Cumulative Dose of a Gadolinium-based Contrast Material

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A cancer family syndrome in twenty-four kindreds.

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A Single Nucleotide Polymorphism in the MDM2 Promoter Attenuates the p53 Tumor Suppressor Pathway and Accelerates Tumor Formation in Humans

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Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li–Fraumeni syndrome

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Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations

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Revisiting Li-Fraumeni Syndrome From <i>TP53</i> Mutation Carriers

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Genome Sequencing of SHH Medulloblastoma Predicts Genotype-Related Response to Smoothened Inhibition

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The genomic landscape of hypodiploid acute lymphoblastic leukemia

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Genetic/Familial High-Risk Assessment: Breast and Ovarian

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Beyond Li Fraumeni Syndrome: Clinical Characteristics of Families With p53 Germline Mutations

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Multiple Primary Cancers in Families With Li-Fraumeni Syndrome

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Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study

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Li-Fraumeni Syndrome

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Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li‐Fraumeni syndrome cohort

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Subgroup-Specific Prognostic Implications of TP53 Mutation in Medulloblastoma

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Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype.

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Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study

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Germline Mutations of the p53 Tumor-Suppressor Gene in Children and Young Adults with Second Malignant Neoplasms

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True

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Sensitivity and predictive value of criteria for p53germline mutation screening

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Tumor-Suppressor Functions of the TP53 PathwayPreprint

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TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

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Li-Fraumeni syndrome: cancer risk assessment and clinical management

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Are there low-penetrance TP53 alleles? Evidence from childhood adrenocortical tumors

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Prevalence and Functional Consequence of TP53 Mutations in Pediatric Adrenocortical Carcinoma: A Children's Oncology Group Study

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The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families

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A TP53 polymorphism is associated with increased risk of colorectal cancer and with reduced levels of TP53 mRNA

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Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome

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Mutations and Deletions of the TP53 Gene Predict Nonresponse to Treatment and Poor Outcome in First Relapse of Childhood Acute Lymphoblastic Leukemia

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Excessive genomic DNA copy number variation in the Li–Fraumeni cancer predisposition syndrome

Shlien, A., Tabori, U. Y., Marshall, C. R., Pieńkowska, M., Feuk, L., Novokmet, A., Nanda, S., Druker, H. A., Scherer, S. W., & Malkin, D. M. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0802970105 · Cited by 203 · see citing works

Impact of Neonatal Screening and Surveillance for the <i>TP53</i> R337H Mutation on Early Detection of Childhood Adrenocortical Tumors

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Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma.

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BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives

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“I want to know what's in Pandora's box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing

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Germline TP53 Variants and Susceptibility to Osteosarcoma

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Detailed haplotype analysis at the <i>TP53</i> locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect

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GermlineTP53Mutations and the Changing Landscape of Li-Fraumeni Syndrome

Kamihara, J., Rana, H. Q., & Garber, J. E. (2014) · Human Mutation · doi:10.1002/humu.22559 · Cited by 153 · see citing works

Pediatric Brain: Repeated Exposure to Linear Gadolinium-based Contrast Material Is Associated with Increased Signal Intensity at Unenhanced T1-weighted MR Imaging

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Two metachronous tumors in the radiotherapy fields of a patient with Li‐Fraumeni syndrome

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Younger Age of Cancer Initiation Is Associated with Shorter Telomere Length in Li-Fraumeni Syndrome

Tabori, U. Y., Nanda, S., Druker, H. A., Lees, J., & Malkin, D. M. (2007) · Cancer Research · doi:10.1158/0008-5472.can-06-3682 · Cited by 149 · see citing works

Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers

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Increased signal intensities in the dentate nucleus and globus pallidus on unenhanced T1-weighted images: evidence in children undergoing multiple gadolinium MRI exams

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The psychological impact of genetic information on children: a systematic review

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Rare Variants in TP53 and Susceptibility to Neuroblastoma

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Genetic Testing in Li-Fraumeni Syndrome: Uptake and Psychosocial Consequences

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Lung cancer risk in germline p53 mutation carriers: association between an inherited cancer predisposition, cigarette smoking, and cancer risk

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Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions

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Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium

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F18-Fluorodeoxyglucose–Positron Emission Tomography/Computed Tomography Screening in Li-Fraumeni Syndrome

Masciari, S. (2008) · JAMA · doi:10.1001/jama.299.11.1315 · Cited by 99 · see citing works

The Inherited p53 Mutation in the Brazilian PopulationPreprint

Achatz, M. I., & Zambetti, G. P. (2016) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a026195 · Cited by 99 · see citing works

Population-Based Estimate of the Contribution of TP53 Mutations to Subgroups of Early-Onset Breast Cancer: Australian Breast Cancer Family Study

Mouchawar, J., Korch, C. T., Byers, T., Pitts, T. M., Li, E., McCredie, M. R. E., Giles, G. G., Hopper, J. L., & Southey, M. C. (2010) · Cancer Research · doi:10.1158/0008-5472.can-09-0851 · Cited by 92 · see citing works

Pediatric Cancer Predisposition Imaging: Focus on Whole-Body MRI

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Surveillance for hereditary cancer: Does the benefit outweigh the psychological burden?—A systematic review

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Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits

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Drastic Effect of GermlineTP53Missense Mutations in Li-Fraumeni Patients

Zerdoumi, Y., Aury‐Landas, J., Bonaïti‐Pellié, C., Derambure, C., Sesboüé, R., Renaux‐Petel, M., Frébourg, T., Bougeard, G., & Flaman, J. (2012) · Human Mutation · doi:10.1002/humu.22254 · Cited by 63 · see citing works

Parent decision‐making around the genetic testing of children for germline TP53 mutations

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Genome-Wide DNA Methylation Analysis Reveals Epigenetic Dysregulation of MicroRNA-34A in TP53 -Associated Cancer Susceptibility

Samuel, N., Wilson, G. W., Lemire, M., Said, B. I., Lou, Y., Li, W., Merino, D. M., Novokmet, A., Tran, J., Nichols, K. E., et al. (2016) · Journal of Clinical Oncology · doi:10.1200/jco.2016.67.6940 · Cited by 45 · see citing works

Psychological functioning in persons considering genetic counseling and testing for Li–Fraumeni syndrome

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Surveillance recommendations for patients with germline TP53 mutations

Ballinger, M. L., Mitchell, G., & Thomas, D. M. (2015) · Current Opinion in Oncology · doi:10.1097/cco.0000000000000200 · Cited by 43 · see citing works

Is CHEK2 a cause of the Li–Fraumeni syndrome?

Evans, D. G., Birch, J. M., & Narod, S. A. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2007.054700 · Cited by 43 · see citing works

A Patient with 17 Primary Tumours and a Germ Line Mutation in : Tumour Induction by Adjuvant Therapy?

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Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li–Fraumeni cancer predisposition syndrome

Ariffin, H., Hainaut, P. L., Puzio‐Kuter, A. M., Choong, S. S., Chan, A. S. L., Tolkunov, D., Rajagopal, G., Kang, W., Lim, L. L. W., Krishnan, S., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1417322111 · Cited by 39 · see citing works

Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes

Lammens, C. R. M., Bleiker, E. M. A., Verhoef, S., Ausems, M. G. E. M., Majoor‐Krakauer, D. F., Sijmons, R. H., Hes, F. J., Gómez-García, E. B., van Os, T. A. M., Spruijt, L., et al. (2011) · Psycho-Oncology · doi:10.1002/pon.1951 · Cited by 39 · see citing works

Age at cancer onset in germline TP53 mutation carriers: association with polymorphisms in predicted G-quadruplex structures.

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Males at-risk for the BRCA1-gene, the psychological impact

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A Japanese patient with Li-Fraumeni syndrome who had nine primary malignancies associated with a germline mutation of the p53 tumor-suppressor gene

Izawa, N., Matsumoto, S., Manabe, J., Tanizawa, T., Hoshi, M., Shigemitsu, T., Machinami, R., Kanda, H., Takeuchi, K., Miki, Y., et al. (2008) · International Journal of Clinical Oncology · doi:10.1007/s10147-007-0692-8 · Cited by 31 · see citing works

Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li‐Fraumeni Syndrome

Peters, J. A., Kenen, R. H., Bremer, R. C., Givens, S. S., Savage, S. A., & Mai, P. L. (2015) · Journal of Genetic Counseling · doi:10.1007/s10897-015-9905-x · Cited by 30 · see citing works

Genotype Versus Phenotype: The Yin and Yang of Germline TP53 Mutations in Li-Fraumeni Syndrome

Nichols, K. E., & Malkin, D. M. (2015) · Journal of Clinical Oncology · doi:10.1200/jco.2015.61.5757 · Cited by 27 · see citing works

The Psychological Burden Inflicted By Multiple Cancers in Li‐Fraumeni Families: Five Case Studies

Oppenheim, D., Brugières, L., Chompret, A., et al. (2001) · Journal of Genetic Counseling · doi:10.1023/a:1009495815436 · Cited by 25 · see citing works

18F-FDG PET-CT for Surveillance of Brazilian Patients with Li-Fraumeni Syndrome

Nogueira, S. T. D. S., Lima, E. N. P., de Nóbrega, A. F., Torres, I. D. C. G., Cavicchioli, M., Hainaut, P. L., & Achatz, M. I. (2015) · Frontiers in Oncology · doi:10.3389/fonc.2015.00038 · Cited by 19 · see citing works

Super-TransactivationTP53Variant in the Germline of a Family with Li-Fraumeni Syndrome

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Transcriptome-wide characterization of the endogenous miR-34A-p53 tumor suppressor network

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