International Journal of Clinical Case Reports 2024, Vol.14, No.4, 202-209 http://medscipublisher.com/index.php/ijccr 202 Research Report Open Access Genetic Analysis and Clinical Application of HOXB13 Variants in Prostate Cancer Jianmin Wang Tianjin Cancer Hospital, Hexi, 300210, Tianjin, China Corresponding email: jianminwang@qq.com International Journal of Clinical Case Reports 2024, Vol.14, No.4 doi: 10.5376/ijccr.2024.14.0021 Received: 01 Jun., 2024 Accepted: 09 Jul., 2024 Published: 03 Aug., 2024 Copyright © 2024 Wang, This is an open access article published under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Preferred citation for this article: Wang J.M., 2024, Genetic analysis and clinical application of HOXB13 variants in prostate cancer, International Journal of Clinical Case Reports, 14(4): 202-209 (doi: 10.5376/ijccr.2024.14.0021) Abstract The HOXB13 gene has emerged as a key factor in prostate cancer susceptibility, particularly its most notable variant, G84E, which is associated with a significantly increased risk of prostate cancer, especially in individuals with a family history or early-onset disease. This report explores the genetic mechanisms of HOXB13 variants, their role in regulating androgen receptor (AR) signaling, and their impact on prostate cancer aggressiveness and treatment resistance. The clinical applications of HOXB13 variants in early diagnosis, risk stratification, and personalized treatment strategies are also discussed. While HOXB13 shows great potential as a biomarker, challenges remain in translating these findings into widespread clinical applications, particularly in non-European populations. Future research must focus on large-scale population studies and the development of therapeutic strategies targeting HOXB13-driven pathways to enhance the management of prostate cancer. Keywords HOXB13; Prostate cancer; Genetic variants; Androgen receptor signaling; Personalized treatment 1 Introduction Prostate cancer (PrCa) is a multifactorial disease influenced by both genetic and environmental factors. Inherited genetic predispositions contribute significantly to its onset, especially among men with a family history of prostate cancer. Variants in several genes have been associated with increased prostate cancer risk, with HOXB13 playing a particularly critical role. It has been established that men with certain germline mutations in key susceptibility genes, such as BRCA2, ATM, and HOXB13, have a heightened risk of developing prostate cancer. Studies highlight that prostate cancer risk is increased particularly in families with early-onset and hereditary cases of the disease (Kote-Jarai et al., 2015). The HOXB13 gene encodes a transcription factor crucial for prostate development. HOXB13 regulates androgen receptor signaling, which is essential for normal prostate cell proliferation and differentiation. The most notable variant, G84E, has been strongly associated with familial and early-onset prostate cancer (Kurihara et al., 2022). This variant is rare but confers a significantly higher risk of developing the disease, particularly in European populations. Research indicates that G84E homozygotes or heterozygotes have a markedly increased risk for prostate cancer, with some studies estimating an 8-fold higher risk in affected individuals (Sipeky et al., 2018). Furthermore, HOXB13 variants are involved in more aggressive forms of prostate cancer, as synergistic interactions with other genes such as CIP2A exacerbate the disease's severity (Dupont et al., 2021). This report provides a comprehensive genetic analysis of HOXB13 variants and their clinical significance in the diagnosis and treatment of prostate cancer. By exploring the mechanisms through which HOXB13 mutations contribute to the onset and aggressiveness of prostate cancer, it aims to deepen the understanding of the roles of these genetic variants. Understanding these interactions can assist clinicians in better stratifying patients for screening and treatment based on their genetic risk, thereby improving personalized prostate cancer management strategies. The report also reviews the potential of HOXB13 as a biomarker for early detection and prognosis in high-risk individuals.
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