The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
High frequency of de novo mutations in Li–Fraumeni syndrome
Abstract
Background: Li–Fraumeni syndrome is an autosomal dominant cancer predisposition syndrome caused by germline mutations in the TP53 gene. The frequency of germline de novo TP53 mutations is largely unknown; few unequivocal de novo mutations have been reported. Methods and results: Of 341 patients with early onset cancer sent for clinical testing to a national reference laboratory, 75 patients had TP53 germline mutations. Five (7%) de novo mutations were identified, as well as an additional 10 TP53 germline mutations likely to be de novo by family history. The frequency of de novo TP53 mutations in this patient sample is at least 7% and may be as high as 20%. Conclusions: The possibility that de novo germline TP53 mutations are relatively common has implications for testing and the identification of potential Li–Fraumeni syndrome in patients with little or no family history of cancer.
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The IARC TP53 database: new online mutation analysis and recommendations to users
Olivier, M., Eeles, R., Hollstein, M., Khan, M. A., Harris, C. C., & Hainaut, P. (2002) · Human Mutation · doi:10.1002/humu.10081 · Cited by 1,248
Prediction of pathogenic mutations in patients with early-onset breast cancer by family history
Lalloo, F., Varley, J., Ellis, D., Moran, A., O'Dair, L., Pharoah, P., & Evans, D. G. R. (2003) · The Lancet · doi:10.1016/s0140-6736(03)12856-5 · Cited by 202
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Malkin, D. (2011) · Genes & Cancer · doi:10.1177/1947601911413466 · Cited by 508
Self-citationMai, P. L., Best, A. F., Peters, J. A., DeCastro, R. M., Khincha, P. P., Loud, J. T., Bremer, R. C., Rosenberg, P. S., & Savage, S. A. (2016) · Cancer · doi:10.1002/cncr.30248 · Cited by 486
Driver and Passenger Mutations in Cancer
Pon, J. R., & Marra, M. A. (2015) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-012414-040312 · Cited by 355
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
Tumour predisposition and cancer syndromes as models to study gene–environment interactions
Carbone, M., Arron, S. T., Beutler, B., Bononi, A., Cavenee, W., Cleaver, J. E., Croce, C. M., D’Andrea, A., Foulkes, W. D., Gaudino, G., et al. (2020) · Nature Reviews Cancer · doi:10.1038/s41568-020-0265-y · Cited by 147
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Metadata
- Authors
- Gonzalez, K. D., Buzin, C. H., Noltner, K. A., Gu, D., Li, W., Malkin, D., & Sommer, S. S.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2009-06-25
- Volume
- 46
- Issue
- 10
- Pages
- 689-693
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2123636830
- Cited by
- 170
- References
- 2
- FWCI
- 3.13
- Type
- journal article
- Language
- en
- Open access
- closed
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- Gonzalez, K. D., Buzin, C. H., Noltner, K. A., Gu, D., Li, W., Malkin, D., & Sommer, S. S. (2009). High frequency of de novo mutations in Li–Fraumeni syndrome. Journal of Medical Genetics. https://doi.org/10.1136/jmg.2008.058958
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