The DOI matches its Crossref record; 169 of the 169 references it cites were found in a registry or an index.
Li-Fraumeni Syndrome
Open accessAbstract
Li-Fraumeni syndrome (LFS) is a classic cancer predisposition disorder that is commonly associated with germline mutations of the p53 tumor suppressor gene. Examination of the wide spectrum of adult-onset and childhood cancers and the distribution of p53 mutations has led to a greater understanding of cancer genotype-phenotype correlations. However, the complex LFS phenotype is not readily explained by the simple identification of germline p53 mutations in affected individuals. Recent work has identified genetic events that modify the LFS phenotype. These include intragenic polymorphisms, mutations/polymorphisms of genes in the p53 regulatory pathway, as well as more global events such as aberrant copy number variation and telomere attrition. These genetic events may, in part, explain the breadth of tumor histiotypes within and across LFS families, the apparent accelerated age of onset within families, and the range of clinical outcomes among affected family members. This review will examine the clinical and genetic definitions of LFS and offer insight into how lessons learned from the study of this rare disorder may inform similar questions in other familial cancer syndromes.
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In the citing paper
“LFS was first discovered in 1969 and is characterized by the early onset of breast cancer as well as various sarcomas, adrenocortical carcinomas, gliomas, leukemias, and other cancers, especially in children and early adulthood.171”
From p53: from understanding its structure to advances in therapeutic targeting (2026) · cites this paper as [171]
In the citing paper
“Germline mutation of TP53 in the heterozygous LOF form usually presents with a rare autosomally dominant genetic disease with a significantly increased risk of cancer development known as Li-Fraumeni syndrome (LFS).”
From p53: from understanding its structure to advances in therapeutic targeting (2026) · cites this paper as [171]
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Cites
1 retracted
Transactivation of the EGR1 Gene Contributes to Mutant p53 Gain of Function
Weisz, L., Zalcenstein, A., Stambolsky, P., Cohen, Y., Goldfinger, N., Oren, M., & Rotter, V. (2004) · Cancer Research · doi:10.1158/0008-5472.can-04-1145 · Cited by 129
RetractedMutation and cancer: statistical study of retinoblastoma
Knudson, A. G. (1971) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.68.4.820 · Cited by 7,612
Lane, D. P. (1992) · Nature · doi:10.1038/358015a0 · Cited by 5,138
Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours
Donehower, L. A., Harvey, M., Slagle, B. L., McArthur, M. J., Montgomery, C. A., Butel, J. S., & Bradley, A. (1992) · Nature · doi:10.1038/356215a0 · Cited by 4,649
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
Self-citationRegulation of p53 stability by Mdm2
Kubbutat, M. H. G., Jones, S. N., & Vousden, K. H. (1997) · Nature · doi:10.1038/387299a0 · Cited by 3,312
T antigen is bound to a host protein in SY40-transformed cells
LANE, D. P., & CRAWFORD, L. V. (1979) · Nature · doi:10.1038/278261a0 · Cited by 2,394
Chromosome 17 Deletions and p53 Gene Mutations in Colorectal Carcinomas
Baker, S. J., Fearon, E. R., Nigro, J. M., Hamilton, S. R., Preisinger, A. C., Jessup, J. M., vanTuinen, P., Ledbetter, D. H., Barker, D. F., Nakamura, Y., et al. (1989) · Science · doi:10.1126/science.2649981 · Cited by 2,066
Tumor spectrum analysis in p53-mutant mice
Jacks, T., Remington, L., Williams, B. O., Schmitt, E. M., Halachmi, S., Bronson, R. T., & Weinberg, R. A. (1994) · Current Biology · doi:10.1016/s0960-9822(00)00002-6 · Cited by 2,051
Amplification of a gene encoding a p53-associated protein in human sarcomas
Oliner, J. D., Kinzler, K. W., Meltzer, P. S., George, D. L., & Vogelstein, B. (1992) · Nature · doi:10.1038/358080a0 · Cited by 1,949
Cited by
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
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome
Kratz, C. P., Achatz, M. I., Brugières, L., Frebourg, T., Garber, J. E., Greer, M.-L. C., Hansford, J. R., Janeway, K. A., Kohlmann, W. K., McGee, R., et al. (2017) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-17-0408 · Cited by 534
Self-citationHuman pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations
Merkle, F. T., Ghosh, S., Kamitaki, N., Mitchell, J., Avior, Y., Mello, C., Kashin, S., Mekhoubad, S., Ilic, D., Charlton, M., et al. (2017) · Nature · doi:10.1038/nature22312 · Cited by 506
Biological Mechanisms and Clinical Significance of BAP1 Mutations in Human Cancer
Carbone, M., Harbour, J. W., Brugarolas, J., Bononi, A., Pagano, I., Dey, A., Krausz, T., Pass, H. I., Yang, H., & Gaudino, G. (2020) · Cancer Discovery · doi:10.1158/2159-8290.cd-19-1220 · Cited by 287
Germline TP53 Variants and Susceptibility to Osteosarcoma
Mirabello, L., Yeager, M., Mai, P. L., Gastier-Foster, J. M., Gorlick, R., Khanna, C., Patiño-Garcia, A., Sierrasesúmaga, L., Lecanda, F., Andrulis, I. L., et al. (2015) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djv101 · Cited by 155
Metadata
- Authors
- Malkin, D.
- Venue
- Genes & Cancer
- Publisher
- SAGE Publications
- Published
- 2011-04-01
- Volume
- 2
- Issue
- 4
- Pages
- 475-484
- ISSN
- 1947-6019 (ISSN-L)
- 1947-6027
- OpenAlex
- W2095909899
- Cited by
- 508
- References
- 169
- FWCI
- 11.99
- Type
- journal article
- Language
- en
- Open access
- bronze
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
