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Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic.
de Andrade KC, Frone MN, Wegman-Ostrosky T, Khincha PP, Kim J, Amadou A, Santiago KM, Fortes FP, Lemonnier N, Mirabello L, Stewart DR, Hainaut P, Kowalski LP, Savage SA, Achatz MI. de Andrade KC, et al. Among authors: achatz mi. Hum Mutat. 2019 Jun;40(6):832-833. doi: 10.1002/humu.23749. Epub 2019 Apr 18. Hum Mutat. 2019. PMID: 30997946 No abstract available.
The Clinical and Molecular Profile of Lung Cancer Patients Harboring the TP53 R337H Germline Variant in a Brazilian Cancer Center: The Possible Mechanism of Carcinogenesis.
Lopes CDH, Antonacio FF, Moraes PMG, Asprino PF, Galante PAF, Jardim DL, de Macedo MP, Sandoval RL, Katz A, de Castro G Jr, Achatz MI. Lopes CDH, et al. Among authors: achatz mi. Int J Mol Sci. 2023 Oct 10;24(20):15035. doi: 10.3390/ijms242015035. Int J Mol Sci. 2023. PMID: 37894716 Free PMC article.
Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium.
Mai PL, Malkin D, Garber JE, Schiffman JD, Weitzel JN, Strong LC, Wyss O, Locke L, Means V, Achatz MI, Hainaut P, Frebourg T, Evans DG, Bleiker E, Patenaude A, Schneider K, Wilfond B, Peters JA, Hwang PM, Ford J, Tabori U, Ognjanovic S, Dennis PA, Wentzensen IM, Greene MH, Fraumeni JF Jr, Savage SA. Mai PL, et al. Among authors: achatz mi. Cancer Genet. 2012 Oct;205(10):479-87. doi: 10.1016/j.cancergen.2012.06.008. Epub 2012 Aug 29. Cancer Genet. 2012. PMID: 22939227 Free PMC article.
Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li-Fraumeni cancer predisposition syndrome.
Ariffin H, Hainaut P, Puzio-Kuter A, Choong SS, Chan AS, Tolkunov D, Rajagopal G, Kang W, Lim LL, Krishnan S, Chen KS, Achatz MI, Karsa M, Shamsani J, Levine AJ, Chan CS. Ariffin H, et al. Among authors: achatz mi. Proc Natl Acad Sci U S A. 2014 Oct 28;111(43):15497-501. doi: 10.1073/pnas.1417322111. Epub 2014 Oct 13. Proc Natl Acad Sci U S A. 2014. PMID: 25313051 Free PMC article.
113 results