The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
GermlineTP53 mutations and Li-Fraumeni syndrome
Open accessAbstract
There are now reports of nearly 250 independent germline TP53 (p53) mutations in over 100 publications. Such mutations are typically associated with Li-Fraumeni or Li-Fraumeni-like syndrome, although many have been identified in cohorts of patients with tumors considered to be typical of LFS. In general, the spectrum of mutations that has been detected in the germline reflects that found in tumors, although there are some notable exceptions in certain tumor types. Detailed knowledge of the pedigrees allows a comprehensive analysis of genotype-phenotype correlations and an understanding of the tumors that are associated with germline TP53 mutations. This review will discuss the spectrum of mutations and the methods for mutation detection, the tumors associated with inheritance of a germline mutation, and some of the ethical and clinical problems in patients with a germline TP53 mutation.
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Cites
The CHEK2-Breast Cancer Consortium (2002) · Nature Genetics · doi:10.1038/ng879 · Cited by 1,104
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 2×
“Two small studies have been reported that analyzed germline TP53 mutations in children with ACC [Sameshima et al., 1992; Wagner et al., 1994], and we subsequently investigated the frequency of germline mutations in a cohort of children with ACC unselected for family history [Varley et al.”
BackgroundBirch, J. M., Blair, V., Kelsey, A. M., Evans, D. G., Harris, M., Tricker, K. J., & Varley, J. M. (1998) · Oncogene · doi:10.1038/sj.onc.1202033 · Cited by 200
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Cited by
When mutants gain new powers: News from the mutant p53 field
Brosh, R., & Rotter, V. (2009) · Nature Reviews Cancer · doi:10.1038/nrc2693 · Cited by 1,132
Vousden, K. H., & Ryan, K. M. (2009) · Nature Reviews Cancer · doi:10.1038/nrc2715 · Cited by 959
Malkin, D. (2011) · Genes & Cancer · doi:10.1177/1947601911413466 · Cited by 508
Mai, 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
Villani, A., Tabori, U., Schiffman, J., Shlien, A., Beyene, J., Druker, H., Novokmet, A., Finlay, J., & Malkin, D. (2011) · The Lancet Oncology · doi:10.1016/s1470-2045(11)70119-x · Cited by 423
Metadata
- Authors
- Varley, J. M.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2003-02-27
- Volume
- 21
- Issue
- 3
- Pages
- 313-320
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2157455826
- Cited by
- 430
- References
- 4
- FWCI
- 10.10
- Type
- journal article
- Language
- en
- Open access
- bronze
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