Prevalence and clinical implications of the TP53 p.R337H mutation in Brazilian breast cancer patients
a systematic literature review
Keywords:
genes, P53, cancer, mutationAbstract
This study assessed the prevalence and clinical implications of the TP53 p.R337H mutation in Brazilian breast cancer patients through a systematic literature review. The literature review was performed in the PubMed, Scientific Electronic Library Online (SciELO), and Medical Literature Analysis and Retrieval System Online (MEDLINE) databases from 1997 to 2018. We used the keyword “R337H” in the search since it resulted in the largest number of published articles on the subject. Initially, we found 75 articles, and, after reviewing the titles and abstracts, we selected 18 studies investigating the prevalence of the TP53 p.R337H mutation in breast cancer patients and its clinical implications. The reading of the full texts led to the inclusion of seven studies. The studies were carried out in the states of São Paulo, Rio Grande do Sul, Rio de Janeiro, and Bahia. The TP53 p.R337H mutation was detected in 87 (4.8%) of the 1.789 women with breast cancer investigated. The prevalence of the TP53 p.R337H mutation in the selected studies ranged from 0.5 to 8.6%. These findings highlight the recommendation for screening the R337H variant in breast cancer patients in Brazil and suggest the need for new research addressing the clinical and prognostic aspects of breast cancer patients with TP53 p.R337H mutation-positive.
Downloads
References
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2020 Eduardo Silvestre Vaz Costa, Isabelle Franco Melazzo, Nathália Amaral Nogueira, Deidimar Cassia Abreu, Flavio Monteiro Ayres, Vera Aparecida Saddi
This work is licensed under a Creative Commons Attribution 4.0 International License.
