GENETICS AND MOLECULAR MUTATIONS IN BREAST CANCER
Main Article Content
Keywords
Breast cancer, BRCA, Family history, genetics, Oncogenes, Vaccines, mRNA therapeutics
Abstract
Breast cancer (BC) is still the most commonly occurring malignancy in women and it poses a formidable public health challenge worldwide. It comprises a group of molecularly heterogeneous diseases in patients with a family history and/or suggestive personnel, and a predisposing gene is identified in <30% of patients in this type of malignancy. About 25% of heritable cases are due to a mutation in one of the few identified rare, but highly penetrant genes (BRCA1, BRCA2, PTEN, TP53, CDH1, and STK11), which confer up to 80% lifetime risk of BC. Additionally, 2%–3% of BC cases are due to a mutation in moderate-penetrance gene (e.g. CHEK2, BRIP1, ATM, and PALB2), and each gene is associated with a twofold increase in risk. BCs can begin in different areas of the breast, such as the ducts, the lobules, or the tissue in between. Within the large group of diverse breast carcinomas, there are various denoted types of BC based on their invasiveness relative to the primary tumor sites. For treatment of BCs, personalized cancer vaccination strategy can be an effective approach to trigger a broad-based antitumor response that is both beneficial and relevant to individual cancer patients. However, mRNA provides a template for the synthesis of any given protein, its fragment and lends itself to a broad range of pharmaceutical uses, including cancer immunotherapy. With the ease of rapid, large scale manufacturing and production, mRNA is ideally poised not only for off-the shelf cancer vaccines but also for personalized neoantigen vaccination. This review provides a comprehensive survey of the genetics, molecular mutations, and state-of-the-art information on vaccine-based therapeutics for BC.
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13. Shiovitz S, Korde LA. Genetics of breast cancer: a topic in evolution. Ann Oncol. 2015;26(7):1291-9. doi: 10.1093/annonc/mdv022.
14. Suter R, Marcum JA. The molecular genetics of breast cancer and targeted therapy. Biologics. 2007;1(3):241-58.
15. Abreu Velez AM, Howard MS. Tumor-suppressor Genes, Cell Cycle Regulatory Checkpoints, and the Skin. N Am J Med Sci 2015;7(5):176-88. doi:10.4103/1947-2714.157476.
16. Sabbah M, Courilleau D, Mester J, Redeuilh G. Estrogen induction of the cyclin D1 promoter: involvement of a cAMP response-like element. Proc Natl Acad Sci U S A 1999;96(20):11217-222. doi:10.1073/pnas.96.20.11217.
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18. Witton CJ, Reeves JR, Going JJ, Cooke TG, Bartlett JM. Expression of the HER1-4 family of receptor tyrosine kinases in breast cancer. J Pathol 2003;200(3):290-7. doi: 10.1002/path.1370.
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20. Cui J, Shen Y, Li R. Estrogen synthesis and signaling pathways during aging: from periphery to brain. Trends Mol Med 2013;19(3):197-09. doi:10.1016/j.molmed.2012.12.007.
21. Abdulkareem IH, Blair M. Phosphatase and tensin homologue deleted on chromosome 10. Niger Med J 2013;54(2):79-86. doi:10.4103/0300-1652.110033.
22. Lee SH, Ryoo E, Tchah H. Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report. Pediatr Gastroenterol Hepatol Nutr 2017;20(1):65-70. doi: 10.5223/pghn.2017.20.1.65.
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28. Olopade OI, Grushko TA, Nanda R, Huo D. Advances in breast cancer: pathways to personalized medicine. Clin Cancer Res 2008;14(24):7988-99. doi:10.1158/1078-0432.CCR-08-1211.
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30. Apostolou P, Papasotiriou I. Current perspectives on CHEK2 mutations in breast cancer. Breast Cancer 2017;9:331-35. doi:10.2147/BCTT.S111394.
31. Biancolella M, Testa B, Baghernajad SL, D’Apice MR, & Novelli G. Genetics and Genomics of Breast Cancer: update and translational perspectives. Sem Cancer Biol 2019;72:27–35. https://doi.org/10.1016/j.semcancer.2020.03.013
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33. 33. Butterfield LH. Cancer Vaccines. BMJ 2015:350:h988. doi: 10.1136/ bmj.h988
34. Domchek SM, Recio A, Mick R, Clark CE, Carpenter EL, Fox KR, et al. Telomerase-Specific T-Cell Immunity in Breast Cancer: Effect of Vaccination on Tumor Immunosurveillance. Cancer Res 2007;67:10546–55. doi: 10.1158/0008-5472.CAN-07-2765
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36. Son S, Nam J, Zenkov I, Ochyl LJ, Xu Y, Scheetz L, et al. Sugar-Nanocapsules imprinted with microbial molecular patterns for mRNA vaccination. Nano Lett. 2020;20(3):1499–509.
37. Wang Y, Zhang Z, Luo J, et al. mRNA vaccine: a potential therapeutic strategy. Mol Cancer 2021;20:33. https://doi.org/10.1186/s12943-021-01311-z.
38. Jahanafrooz Z, Baradaran B, Mosafer J, et al. Comparison of DNA and mRNA vaccines against cancer. Drug Discov Today 2020;25(3):552-60. doi:10.1016/j.drudis.2019.12.003.
39. Kyrieleis OJ, Chang J, de la Peña M, Shuman S, Cusack S. Crystal structure of vaccinia virus mRNA capping enzyme provides insights into the mechanism and evolution of the capping apparatus. Structure 2014;22(3):452-65. doi:10.1016/j.str.2013.12.014.
40. Kushwaha M, Rostain W, Prakash S, Duncan JN, Jaramillo A. Using RNA as Molecular Code for Programming Cellular Function. ACS Synth Biol 2016;5:795–09.
41. Angeli D, Salvi S, Tedaldi G. Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test?. Int J Mol Sci. 2020;21(3):1128. doi:10.3390/ijms21031128.
42. Børresen-Dale AL. TP53 and breast cancer. Hum Mutat 2003;21(3):292-300. doi: 10.1002/humu.10174.
43. Fusco N, Sajjadi E, Venetis K, Gaudioso G, Lopez G, Corti C, et al. PTEN Alterations and Their Role in Cancer Management: Are We Making Headway on Precision Medicine? Genes 2020;11(7):719. https://doi.org/10.3390/genes11070719.
44. Thompson D. Cancer Incidence in BRCA1 Mutation Carriers. J Natl Cancer Inst 2002;94:1358–65.
45. Hoskins LM, Roy K, Peters JA, Loud JT, Greene MH. Disclosure of positive BRCA1/2-mutation status in young couples: The journey from uncertainty to bonding through partner support. Fam Syst Health 2008;26:296–16.
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Sep 11, 2024
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Saliha Khalid, Tabinda Razzaq, Afriaz Khan, Sadia Afzal, Shiv Ram Ashraf, Laraib Zafar, Summayya Maryam, Kashif Nawaz, & Abbas Shahid. (2024). GENETICS AND MOLECULAR MUTATIONS IN BREAST CANCER. Journal of Population Therapeutics and Clinical Pharmacology, 31(9), 841-859. https://doi.org/10.53555/6sktch48
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Author Biographies
Saliha Khalid
Department of Material Science and Nanotechnology, School of Engineering and Natural Sciences, Kadir Has University, Cibali Campus Fatih 34083, Istanbul Turkey.
Tabinda Razzaq
Faculty of Pharmaceutical Sciences, Lahore University of Biological and Applied Sciences, Pakistan
Afriaz Khan
Institute of Zoological Science, University of Peshawar, Pakistan.
Sadia Afzal
Department of Zoology, Government College Women University, Faisalabad.
Shiv Ram Ashraf
Department of Biochemistry & Biotechnology, University of Gujrat Pakistan.
Laraib Zafar
Department of Biochemistry, Faculty of Science and Technology, University of Central Punjab, Lahore, Pakistan.
Summayya Maryam
Department of Biochemistry, Faculty of Science and Technology, University of Central Punjab, Lahore, Pakistan.
Kashif Nawaz
Department of Zoology, University of Okara.
Abbas Shahid
Department of Biochemistry, Faculty of Science and Technology, University of Central Punjab, Lahore, Pakistan.
How to Cite
Saliha Khalid, Tabinda Razzaq, Afriaz Khan, Sadia Afzal, Shiv Ram Ashraf, Laraib Zafar, Summayya Maryam, Kashif Nawaz, & Abbas Shahid. (2024). GENETICS AND MOLECULAR MUTATIONS IN BREAST CANCER. Journal of Population Therapeutics and Clinical Pharmacology, 31(9), 841-859. https://doi.org/10.53555/6sktch48