CGE_2024v12n4

Cancer Genetics and Epigenetics 2024, Vol.12, No.4, 166-181 http://medscipublisher.com/index.php/cge 178 Therefore, improving the classification of VUS and understanding the functional impact of these variants is critical for enhancing the utility of genetic testing. Additionally, the identification of genetic modifiers and their relationship with pathological subtypes of breast cancer can refine risk prediction models and guide therapeutic approaches. The pathogenesis of breast cancer is influenced by a complex interplay of genetic factors. While significant progress has been made in identifying key susceptibility genes, much remains to be understood about the underlying mechanisms and the role of less common genetic variants. Future research should focus on elucidating the functional impact of identified variants, improving the classification of VUS, and integrating genetic information into comprehensive risk assessment models. Such efforts will enhance the precision of breast cancer screening, prevention, and treatment, ultimately improving patient outcomes. Acknowledgments The author extend sincere thanks to two anonymous peer reviewers for their feedback on the manuscript. Conflict of Interest Disclosure The author affirms that this research was conducted without any commercial or financial relationships that could be construed as a potential conflict of interest. References Baliu-Piqué M., Pandiella A., and Ocana A., 2020, Breast cancer heterogeneity and response to novel therapeutics, Cancers, 12(11): 3271. https://doi.org/10.3390/cancers12113271 Baylin S.B., and Jones P.A., 2016, Epigenetic determinants of cancer. Cold Spring Harbor perspectives in biology, 8(9): a019505. https://doi.org/10.1101/cshperspect.a019505 Breast Cancer Association Consortium, 2021, Breast cancer risk genes-association analysis in more than 113,000 women, New England Journal of Medicine, 384(5): 428-439. https://doi.org/10.1056/NEJMoa1913948 Calabrese C., Davidson N., Demircioğlu D., Fonseca N., He Y., Kahles A., Lehmann K., Liu F., Shiraishi Y., Soulette C., Urban L., Greger L., Li S., Liu D., Perry M., Xiang Q., Zhang F., Zhang J., Bailey P., Erkek S., Hoadley K., Hou Y., Huska M., Kilpinen H., Korbel J., Marin M., Markowski J., Nandi T., Pan-Hammarström Q., Pedamallu C., Siebert R., Stark S., Su H., Tan P., Waszak S., Yung C., Zhu S., Awadalla P., Meyerson M., Ouellette B., Wu K., Yang H., Amin S., Chateigner A., Cortés-Ciriano I., Craft B., Frenkel-Morgenstern M., Goldman M., Khurana E., Lamaze F., Li C., Li X., Li X., Liu X., Nielsen M., Ojesina A., Park P., Pedersen J., Teh B., Wang J., Xiong H., Yakneen S., Ye C., Zhang X., Zheng L., Zhu J., Creighton C., Göke J., Schwarz R., Stegle O., Zhang Z., Brazma A., Rätsch G., and Brooks A., 2020, Genomic basis for RNA alterations in cancer, Nature, 578(7793): 129-136. Campeau P.M., Foulkes W.D., and Tischkowitz M.D., 2008, Hereditary breast cancer: new genetic developments, new therapeutic avenues, Human Genetics, 124: 31-42. https://doi.org/10.1007/s00439-008-0529-1 Chakravarthi B.V., Nepal S., and Varambally S., 2016, Genomic and epigenomic alterations in cancer, The American Journal of Pathology, 186(7): 1724-1735. https://doi.org/10.1016/j.ajpath.2016.02.023 Chen M., and Zhao H., 2019, Next-generation sequencing in liquid biopsy: cancer screening and early detection, Human Genomics, 13(1): 34. https://doi.org/10.1186/s40246-019-0220-8 Dancey J.E., Bedard P.L., Onetto N., and Hudson T.J., 2012, The genetic basis for cancer treatment decisions, Cell, 148(3): 409-420. https://doi.org/10.1016/j.cell.2012.01.014 Davalos V., and Esteller M., 2023, Cancer epigenetics in clinical practice, CA: a Cancer Journal for Clinicians, 73(4): 376-424. https://doi.org/10.3322/caac.21765 Eccles S., Aboagye E., Ali S., Anderson A., Armes J., Berditchevski F., Blaydes J., Brennan K., Brown N., Bryant H., Bundred N., Burchell J., Campbell A., Carroll J., Clarke R., Coles C., Cook G., Cox A., Curtin N., Dekker L., Dos I., Silva S., Duffy S., Easton D., Eccles D., Edwards D., Edwards J., Evans G., Fenlon D., Flanagan J., Foster C., Gallagher W., García-Closas M., Gee J., Gescher A., Goh V., Groves A., Harvey A., Harvie M., Hennessy B., Hiscox S., Holen I., Howell S., Howell A., Hubbard G., Hulbert-Williams N., Hunter M., Jasani B., Jones L., Key T., Kirwan C., Kong A., Kunkler I., Langdon S., Leach M., Mann D., Marshall J., Martin L., Martin S., Macdougall J., Miles D., Miller W., Morris J., Moss S., Mullan P., Natrajan R., Connor J., Connor R., Palmieri C., Pharoah P., Rakha E., Reed E., Robinson S., Sahai E., Saxton J., Schmid P., Smalley M., Speirs V., Stein R., Stingl J., Streuli C., Tutt A., Velikova G., Walker R., Watson C., Williams K., Young L., and Thompson A., 2013, Critical research gaps and translational priorities for the successful prevention and treatment of breast cancer, Breast Cancer Research, 15: 1-37. https://doi.org/10.1186/bcr3493 Economopoulou P., Dimitriadis G., and Psyrri A., 2015, Beyond BRCA: new hereditary breast cancer susceptibility genes, Cancer treatment reviews, 41(1): 1-8. https://doi.org/10.1016/j.ctrv.2014.10.008 Esagian S.M., Grigoriadou G.Ι., Nikas I.P., Boikou V., Sadow P.M., Won J.K., and Economopoulos K.P., 2020, Comparison of liquid-based to tissue-based biopsy analysis by targeted next generation sequencing in advanced non-small cell lung cancer: a comprehensive systematic review, Journal of Cancer Research and Clinical Oncology, 146: 2051-2066. https://doi.org/10.1007/s00432-020-03267-x

RkJQdWJsaXNoZXIy MjQ4ODYzNQ==