Cited by 764Cancer-related Molecular PathwaysMultiple and Secondary Primary CancersBRCA gene mutations in cancer

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Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

Bougeard, Gaëlle, Renaux-Petel, Mariette, Flaman, Jean-Michel, Charbonnier, Camille, Fermey, Pierre, Belotti, Muriel, Gauthier-Villars, Marion, Stoppa-Lyonnet, Dominique, Consolino, Emilie, Brugières, Laurence, Caron, Olivier, Benusiglio, Patrick R., Bressac-de Paillerets, Brigitte, Bonadona, Valérie, Bonaïti-Pellié, Catherine, Tinat, Julie, Baert-Desurmont, Stéphanie, Frebourg, Thierry·2015·Journal of Clinical Oncology

DOI 10.1200/jco.2014.59.5728

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Abstract

Purpose: The aim of the study was to update the description of Li-Fraumeni syndrome (LFS), a remarkable cancer predisposition characterized by extensive clinical heterogeneity. Patients and Methods: From 1,730 French patients suggestive of LFS, we identified 415 mutation carriers in 214 families harboring 133 distinct TP53 alterations and updated their clinical presentation. Results: The 322 affected carriers developed 552 tumors, and 43% had developed multiple malignancies. The mean age of first tumor onset was 24.9 years, 41% having developed a tumor by age 18. In childhood, the LFS tumor spectrum was characterized by osteosarcomas, adrenocortical carcinomas (ACC), CNS tumors, and soft tissue sarcomas (STS) observed in 30%, 27%, 26%, and 23% of the patients, respectively. In adults, the tumor distribution was characterized by the predominance of breast carcinomas observed in 79% of the females, and STS observed in 27% of the patients. The TP53 mutation detection rate in children presenting with ACC or choroid plexus carcinomas, and in females with breast cancer before age 31 years, without additional features indicative of LFS, was 45%, 42% and 6%, respectively. The mean age of tumor onset was statistically different (P < .05) between carriers harboring dominant-negative missense mutations (21.3 years) and those with all types of loss of function mutations (28.5 years) or genomic rearrangements (35.8 years). Affected children, except those with ACC, harbored mostly dominant-negative missense mutations. Conclusion: The clinical gradient of the germline TP53 mutations, which should be validated by other studies, suggests that it might be appropriate to stratify the clinical management of LFS according to the class of the mutation.

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Germ Line p53 Mutations in a Familial Syndrome of Breast Cancer, Sarcomas, and Other Neoplasms
Malkin, D., Li, F. P., Strong, L. C., Fraumeni, J. F., Nelson, C. E., Kim, D. H., Kassel, J., Gryka, M. A., Bischoff, F. Z., Tainsky, M. A., et al. (1990) · Science · doi:10.1126/science.1978757 · Cited by 3,765
Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database
Petitjean, A., Mathe, E., Kato, S., Ishioka, C., Tavtigian, S. V., Hainaut, P., & Olivier, M. (2007) · Human Mutation · doi:10.1002/humu.20495 · Cited by 1,598 · cited 2×
“Dominant-negative mutations were defined on the basis of the ability of the mutant protein to inhibit the activity of the wild-type p53 protein,(16) as indicated in the International Agency for Research on Cancer TP53 Database.(17)”
Method
Mutant p53 in Cancer: New Functions and Therapeutic Opportunities
Muller, P. A. J., & Vousden, K. H. (2014) · Cancer Cell · doi:10.1016/j.ccr.2014.01.021 · Cited by 1,545
Soft-Tissue Sarcomas, Breast Cancer, and Other Neoplasms
Li, F. P., & FRAUMENI, J. F. (1969) · Annals of Internal Medicine · doi:10.7326/0003-4819-71-4-747 · Cited by 1,514
Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome
Olive, K. P., Tuveson, D. A., Ruhe, Z. C., Yin, B., Willis, N. A., Bronson, R. T., Crowley, D., & Jacks, T. (2004) · Cell · doi:10.1016/j.cell.2004.11.004 · Cited by 1,308
A cancer family syndrome in twenty-four kindreds.
Li, F. P., Fraumeni, J. F., Mulvihill, J. J., Blattner, W. A., Dreyfus, M., Tucker, M., & Miller, R. (1988) · PubMed · Cited by 1,293
Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li–Fraumeni syndrome
Srivastava, S. K., Zou, Z., Pirollo, K. F., Blattner, W. A., & Chang, E. H. (1990) · Nature · doi:10.1038/348747a0 · Cited by 1,210
Gain of function of a p53 hot spot mutation in a mouse model of Li-Fraumeni syndrome
Lang, G. A., Iwakuma, T., Suh, Y.-A., Liu, G., Rao, V. A., Parant, J. M., Valentin-Vega, Y. A., Terzian, T., Caldwell, L. C., Strong, L. C., et al. (2004) · Cell · doi:10.1016/j.cell.2004.11.006 · Cited by 1,069
Beyond Li Fraumeni Syndrome: Clinical Characteristics of Families With p53 Germline Mutations
Hagman, K. D. F., Noltner, K., Buzin, C. H., Gu, D., Wen, C. Y., Nguyen, V. Q., Han, J., Lowstuter, K. J., Longmate, J., Sommer, S. S., et al. (2009) · Journal of Clinical Oncology · doi:10.1200/jco.2008.16.6959 · Cited by 607
Multiple Primary Cancers in Families With Li-Fraumeni Syndrome
Hisada, M., Garber, J. E., Li, F. P., Fung, C. Y., & Fraumeni, J. F. (1998) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/90.8.606 · Cited by 553

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Show all 42 references

Research works printed but not linked: 3

Li FP, 1988, Cancer Res, 48, 5358
Nutting C, 2000, Clin Oncol (R Coll Radiol), 12, 300
Spencer SJ, 1999, J Clin Endocrinol Metab, 84, 1110

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Foss-Skiftesvik, J., Stoltze, U. K., van Overeem Hansen, T., Ahlborn, L. B., Sørensen, E., Ostrowski, S. R., Kullegaard, S. M. A., Laspiur, A. O., Melchior, L. C., Scheie, D., et al. (2022) · Figshare · doi:10.6084/m9.figshare.20652080
Additional file 4 of Clinical implications of the family history in patients with lung cancer: a systematic review of the literature and a new cross-sectional/prospective study design (FAHIC: lung)
Citarella, F., Takada, K., Cascetta, P., Crucitti, P., Petti, R., Vincenzi, B., Tonini, G., Venanzi, F. M., Bulotta, A., Oresti, S., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26756554
Additional file 4 of Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients
Ceyhan‐Birsoy, O., Jayakumaran, G., Kemel, Y. M., Misyura, M., Aypar, U., Jairam, S., Yang, C., Li, Y., Mehta, N. N., Maio, A., et al. (2022) · Figshare · doi:10.6084/m9.figshare.20495869
Additional file 1 of Pediatric-type high-grade gliomas with PDGFRA amplification in adult patients with Li-Fraumeni syndrome: clinical and molecular characterization of three cases
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Prédisposition héréditaire au cancer du sein (2)
Cohen‐Haguenauer, O. (2019) · Springer Link (Chiba Institute of Technology) · doi:10.1051/medsci/2019072/pdf
Additional file 2 of Comprehensive multiomics analysis reveals distinct differences between pediatric choroid plexus papilloma and carcinoma
Choi, Y., Choi, S. A., Koh, E. J., Yun, I., Park, S., Jeon, S., Kim, Y., Park, S., Woo, D., Phi, J. H., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26732839
Additional file 1 of Clinical implications of the family history in patients with lung cancer: a systematic review of the literature and a new cross-sectional/prospective study design (FAHIC: lung)
Citarella, F., Takada, K., Cascetta, P., Crucitti, P., Petti, R., Vincenzi, B., Tonini, G., Venanzi, F. M., Bulotta, A., Oresti, S., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26420394
Additional file 3 of Clinical implications of the family history in patients with lung cancer: a systematic review of the literature and a new cross-sectional/prospective study design (FAHIC: lung)
Citarella, F., Takada, K., Cascetta, P., Crucitti, P., Petti, R., Vincenzi, B., Tonini, G., Venanzi, F. M., Bulotta, A., Oresti, S., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26756551

Authors: Bougeard, G., Renaux-Petel, M., Flaman, J.-M., Charbonnier, C., Fermey, P., Belotti, M., Gauthier-Villars, M., Stoppa-Lyonnet, D., Consolino, E., Brugières, L., Caron, O., Benusiglio, P. R., Bressac-de Paillerets, B., Bonadona, V., Bonaïti-Pellié, C., Tinat, J., Baert-Desurmont, S., & Frebourg, T.
Affiliations: Inserm (FR)
Gaëlle Bougeard, Mariette Renaux-Petel, Jean-Michel Flaman, Camille Charbonnier, Pierre Fermey, Julie Tinat, Stéphanie Baert-Desurmont, Thierry Frebourg, Institut National de la Santé et de la Recherche Médicale (Inserm) U1079, University of Rouen, Institute for Research and Innovation in Biomedicine; Julie Tinat, Stéphanie Baert-Desurmont, Thierry Frebourg, University Hospital, Rouen; Muriel Belotti, Marion Gauthier-Villars, Dominique Stoppa-Lyonnet, Curie Institute, Paris; Emilie Consolino, Laurence...
ORCID: Bougeard, Gaëlle
Flaman, Jean-Michel
Charbonnier, Camille
Brugières, Laurence
Caron, Olivier
Benusiglio, Patrick R.
Bonadona, Valérie
Tinat, Julie
Venue: Journal of Clinical Oncology
Publisher: American Society of Clinical Oncology (ASCO)
Published: 2015-07-20
Volume: 33
Issue: 21
Pages: 2345-2352
ISSN: 0732-183X (ISSN-L)
1527-7755
DOI: 10.1200/jco.2014.59.5728
OpenAlex: W2095770043
Cited by: 760
References: 42
Citations by year: 2026: 68 · 2025: 85 · 2024: 95 · 2023: 67 · 2022: 82 · 2021: 81 · 2020: 78 · 2019: 59 · 2018: 42 · 2017: 64 · 2016: 30 · 2015: 9
FWCI: 21.11
Type: journal article
Language: en
Open access: closed
Locations: Journal of Clinical Oncology (publishedVersion)
PubMed (publishedVersion)
HAL (submittedVersion)
Topics: Health Sciences › Medicine › Oncology › Cancer-related Molecular Pathways
Health Sciences › Medicine › Epidemiology › Multiple and Secondary Primary Cancers
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
Keywords: Li-Fraumeni syndrome, germline TP53 mutation, cancer susceptibility, multiple primary neoplasms, childhood tumors, osteosarcoma, adrenocortical carcinoma, choroid plexus carcinoma, breast cancer, soft tissue sarcoma, central nervous system tumors, loss-of-function mutations, genome rearrangement, mutation classification
MeSH terms: Adolescent, Adult, Female, France, Genetic Testing, Genotype, Humans, Male, Phenotype, Tumor Suppressor Protein p53, Li-Fraumeni Syndrome, Sequence Analysis, DNA, Age of Onset, Germ-Line Mutation

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Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

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