Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations.

By K. Gonzalez, Katie Noltner, C. Buzin, D. Gu, Cindy Y Wen-Fong, V. Q. Nguyen, Jennifer H. Han, K. Lowstuter, J. Longmate, S. Sommer and 1 more. Journal of Clinical Oncology, 2009

609 citations recorded by the source corpus.

Subfields: Molecular Biology, Oncology, Surgery

View Paper: https://www.semanticscholar.org/paper/f2973179fd593fe2cd13fc8955cf40e725da7060

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In Molecular Biology

1. Magali Olivier
2. M. Hollstein
3. Pierre Hainaut
4. Varda Rotter

In Oncology

1. Magali Olivier
2. M. Hollstein
3. Pierre Hainaut
4. Varda Rotter

Citations in the corpus

• Variable population prevalence estimates of germline TP53 variants: a gnomAD-based analysis (2018, background): “Based on our non-clinical classification criteria, we reported a higher-than-expected prevalence of pathogenic (P) and likely pathogenic (LP) germline TP53 variants that may be, by some estimates, up to 10 times higher than originally described (Gonzalez et al., 2009; Lalloo et al., 2003).”
• TP53 mutations in human cancers: origins, consequences, and clinical use. (2010, background): “Rarer cancers associated with TP53 germline mutation are choroid plexus carcinoma or papilloma before the age of 15, Wilms’ tumor, and malignant phyllodes tumors (Birch et al. 2001; Gonzalez et al. 2009).”
• Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. (2015, positive): “The sensitivity and specificity of these criteria have been estimated to 82% to 95% and 47% to 58%, respectively.(12-14) Considering the high penetrance of TP53 mutations and the rapidity of LFS pedigree evolution, we performed, in the context of a national study, an update of the clinical data from”