The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes
Open accessAbstract
Fifty years after the recognition of the Li–Fraumeni syndrome (LFS), our perception of cancers related to germline alterations of TP53 has drastically changed: (i) germline TP53 alterations are often identified among children with cancers, in particular soft-tissue sarcomas, adrenocortical carcinomas, central nervous system tumours, or among adult females with early breast cancers, without familial history. This justifies the expansion of the LFS concept to a wider cancer predisposition syndrome designated heritable TP53-related cancer (h TP53 rc) syndrome; (ii) the interpretation of germline TP53 variants remains challenging and should integrate epidemiological, phenotypical, bioinformatics prediction, and functional data; (iii) the penetrance of germline disease-causing TP53 variants is variable, depending both on the type of variant (dominant-negative variants being associated with a higher cancer risk) and on modifying factors; (iv) whole-body MRI (WBMRI) allows early detection of tumours in variant carriers and (v) in cancer patients with germline disease-causing TP53 variants, radiotherapy, and conventional genotoxic chemotherapy contribute to the development of subsequent primary tumours. It is critical to perform TP53 testing before the initiation of treatment in order to avoid in carriers, if possible, radiotherapy and genotoxic chemotherapies. In children, the recommendations are to perform clinical examination and abdominal ultrasound every 6 months, annual WBMRI and brain MRI from the first year of life, if the TP53 variant is known to be associated with childhood cancers. In adults, the surveillance should include every year clinical examination, WBMRI, breast MRI in females from 20 until 65 years and brain MRI until 50 years.
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Cites
Coombs, C. C., Zehir, A., Devlin, S. M., Kishtagari, A., Syed, A., Jonsson, P., Hyman, D. M., Solit, D. B., Robson, M. E., Baselga, J., et al. (2017) · Cell stem cell · doi:10.1016/j.stem.2017.07.010 · Cited by 866
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers
Bougeard, G., Renaux-Petel, M., Flaman, J.-M., Charbonnier, C., Fermey, P., Belotti, M., Gauthier-Villars, M., Stoppa-Lyonnet, D., Consolino, E., Brugières, L., et al. (2015) · Journal of Clinical Oncology · doi:10.1200/jco.2014.59.5728 · Cited by 760
Mutational processes shape the landscape of TP53 mutations in human cancer
Giacomelli, A. O., Yang, X., Lintner, R. E., McFarland, J. M., Duby, M., Kim, J., Howard, T. P., Takeda, D. Y., Ly, S. H., Kim, E., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0204-y · Cited by 556
Villani, A., Shore, A., Wasserman, J. D., Stephens, D., Kim, R. H., Druker, H., Gallinger, B., Naumer, A., Kohlmann, W., Novokmet, A., et al. (2016) · The Lancet Oncology · doi:10.1016/s1470-2045(16)30249-2 · Cited by 546
Are there low-penetrance TP53 alleles? Evidence from childhood adrenocortical tumors
Varley, J. M., McGown, G., Thorncroft, M., James, L. A., Margison, G. P., Forster, G., Evans, D. G. R., Harris, M., Kelsey, A. M., & Birch, J. M. (1999) · The American Journal of Human Genetics · doi:10.1086/302575 · Cited by 266
Self-citationHigh frequency of germline p53 mutations in childhood adrenocortical cancer
Wagner, J., Portwine, C., Rabin, K., Leclerc, J.-M., Narod, S. A., & Malkin, D. (1994) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/86.22.1707 · Cited by 227
Cited by
Gronchi, A., Miah, A. B., Dei Tos, A. P., Abecassis, N., Bajpai, J., Bauer, S., Biagini, R., Bielack, S., Blay, J. Y., Bolle, S., et al. (2021) · Annals of Oncology · doi:10.1016/j.annonc.2021.07.006 · Cited by 1,115
Carbone, M., Pass, H. I., Ak, G., Alexander, H. R., Baas, P., Baumann, F., Blakely, A. M., Bueno, R., Bzura, A., Cardillo, G., et al. (2022) · Journal of Thoracic Oncology · doi:10.1016/j.jtho.2022.03.014 · Cited by 97
Montellier, E., Lemonnier, N., Penkert, J., Freycon, C., Blanchet, S., Amadou, A., Chuffart, F., Fischer, N. W., Achatz, M.-I., Levine, A. J., et al. (2024) · iScience · doi:10.1016/j.isci.2024.111296 · Cited by 29
Efficacy and safety of immune checkpoint blockade in patients with Li-Fraumeni syndrome
Bottosso, M., Verret, B., Caron, O., Hamzaoui, N., Pasmant, E., Danlos, F.-X., Boudou-Rouquette, P., Srikaran, A., Blons, H., Guarneri, V., et al. (2024) · JCO Precision Oncology · doi:10.1200/po.24.00139 · Cited by 6
Metadata
- Authors
- The European Reference Network GENTURIS, Frebourg, T., Bajalica Lagercrantz, S., Oliveira, C., Magenheim, R., & Evans, D. G.
- Venue
- European Journal of Human Genetics
- Published
- 2020-05-26
- Volume
- 28
- Issue
- 10
- Pages
- 1379-1386
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- OpenAlex
- W3031321793
- Cited by
- 342
- References
- 6
- FWCI
- 22.24
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- The European Reference Network GENTURIS, Frebourg, T., Bajalica Lagercrantz, S., Oliveira, C., Magenheim, R., & Evans, D. G. (2020). Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes. European Journal of Human Genetics. https://doi.org/10.1038/s41431-020-0638-4
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