Prevalence and clinical implications of the TP53 p.R337H mutation in Brazilian breast cancer patients

a systematic literature review

Resumo

1. Hoadley KA, Yau C, Wolf DM, Cherniack AD, Tamborero D, Ng S, et al. Multiplatform analysis of 12 cancer types reveals molecular classification within and across tissues of origin. Cell. 2014;158(4):929-44. https://doi.org/10.1016/j.cell.2014.06.049 2. Shah SP, Roth A, Goya R, Oloumi A, Ha G, Zhao Y, et al. The clonal and mutational evolution spectrum of primary triple-negative breast cancers. Nature. 2012;486(7403):395-9. https://doi.org/10.1038/nature10933 3. Silwal-Pandit L, Vollan HK, Chin SF, Rueda OM, McKinney S, Osako T, et al. TP53 mutation spectrum in breast cancer is subtype specific and has distinct prognostic relevance. Clin Cancer Res. 2014;20(13):3569-80. https://doi. org/10.1158/1078-0432.CCR-13-2943 4. Nik-Zainal S, Davies H, Staaf J, Ramakrishna M, Glodzik D, Zou X, et al. Landscape of somatic mutations in 560 breast cancer whole-genome sequences. Nature. 2016;534(7605):47- 54. https://doi.org/10.1038/nature17676 5. Hahn EC, Bittar CM, Vianna FSL, Netto CBO, Biazús JV, Cericatto R, et al. TP53 p. Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients. PLoS One. 2018;13(12):e0209934. https:// doi.org/10.1371/journal.pone.0209934 6. Levine AJ, Oren M. The first 30 years of p53: growing ever more complex. Nat Rev Cancer. 2009;9(10):749-58. https://doi. org/10.1038/nrc2723 7. Levine AJ. The many faces of p53: something for everyone. J Mol Cell Biol. 2019;11(7):524-30. https://doi.org/10.1093/jmcb/mjz026 8. Wasserman JD, Zambetti GP, Malkin D. Towards an understanding of the role of p53 in adrenocortical carcinogenesis. Mol Cell Endocrinol. 2012;351(1):101-10. https://dx.doi.org/10.1016%2Fj.mce.2011.09.010 9. Blandino G, Deppert W, Hainaut P, Levine A, Lozano G, Olivier M, et al. Mutant p53 protein, master regulator of human malignancies: a report on the Fifth Mutant p53Workshop. Cell Death Differ. 2012;19(1):180-3. https://dx.doi.org/10.1038%2Fcdd.2011.148 10. Latronico AC, Pinto EM, Domenice S, Fragoso MC, Martin RM, Zerbini MC, et al. An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors. J Clin Endocrinol Metab. 2001;86(10):4970-3. https:// doi.org/10.1210/jcem.86.10.7957 11. Ribeiro RC, Sandrini F, Figueiredo B, Zambetti GP, Michalkiewicz E, Lafferty AR, et al. An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. Proc Natl Acad Sci. 2001;98(16):9330-5. https://doi.org/10.1073/pnas.161479898 REFERENCES 12. Digiammarino EL, Lee AS, Cadwell C, Zhang W, Bothner B, Ribeiro RC, et al. A novel mecanism of tumorigenis involving pH-dependent destabilization of a mutant p53 tetramer. Nat Struct Biol. 2002;9(1):12-6. https://doi.org/10.1038/nsb730 13. Macedo GS, da Motta LL, Giacomazzi J, Netto CBO, Manfredini V, Vanzin CS, et al. Increased Oxidative Damage in Carriers of the Germline TP53p.R337H Mutation. PLoS One. 2012;7(10):e47010. https://doi.org/10.1371/journal.pone.0047010 14. Silva FC, Lisboa BCG, Figueiredo MCP, Torrezan GT, Santos EMM, Krepischi AC, et al. Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. BMC Med Genet. 2014;15:55. https://doi.org/10.1186/1471-2350-15-55 15. Garritano S, Gemignani F, Palmero EI, Olivier M, Martel-Planche G, Le Calvez-Kelm F, et al. Detailed Haplotype Analysis at the TP53 Locus in p.R337H Mutation Carriers in the Population of Southerns Brazil: Evidence for a Founder Effect. Hum Mutat. 2010;31(2):143-50. https://doi.org/10.1002/humu.21151 16. Achatz MI, Olivier M, Le Calvez F, Martel-Planche G, Lopes A, Rossi B, et al. The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. Cancer Lett. 2007;245(1-2):96-102. https://doi.org/10.1016/j.canlet.2005.12.039 17. Borges LM, Ayres FM. R337H mutation of the TP53 gene as a clinical marker in cancer patients: a systematic review of literature. Genet Mol Res. 2015;14(4):17034-43. https://doi. org/10.4238/2015.December.16.4 18. Giacomazzi J, Koehler-Santos P, Palmero EI, Graudenz MS, Rivero LF, Lima E, et al. A TP53 founder mutation, p.R337H, is associated with phyllodes breast tumors in Brazil. Virchows Arch. 2013;463(1):17-22. https://doi.org/10.1007/s00428-013-1439-8 19. Assumpção JG, Seidinger AL, Mastellaro MJ, Ribeiro RC, Zambetti GP, Ganti R, et al. Association of the germline TP53 R337H mutation with breast cancer in southern Brazil. BMC Cancer. 2008;8:357. https://doi.org/10.1186/1471-2407-8-357 20. Giacomazzi J, Graudenz MS, Osorio CA, Koehler-Santos P, Palmero EI, Zagonel-Oliveira M, et al. Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil. PLoS One. 2014;9(6):e99893. https://doi.org/10.1371/journal.pone.0099893 21. Gomes MC, Kotsopoulos J, de Almeida GL, Costa MM, Vieira R, Filho AGF, et al. The R337H mutation in TP53 and breast cancer in Brazil. Hered Cancer Clin Pract. 2012;10(1):3. https:// dx.doi.org/10.1186%2F1897-4287-10-3 22. Cury NM, Ferraz VEF, Silva WA Jr. TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families. Hered Cancer Clin Pract. 2014;12(1):8. https://doi.org/10.1186/1897- 4287-12-8