关键词: cancer carcinogenesis clustered mutations prognostic markers

Mesh : Humans Neoplasms / genetics pathology Mutation Carcinogenesis / genetics Genomic Instability Cell Transformation, Neoplastic / genetics DNA Repair / genetics Animals

来  源:   DOI:10.3390/ijms25126744   PDF(Pubmed)

Abstract:
Abnormal cell proliferation and growth leading to cancer primarily result from cumulative genome mutations. Single gene mutations alone do not fully explain cancer onset and progression; instead, clustered mutations-simultaneous occurrences of multiple mutations-are considered to be pivotal in cancer development and advancement. These mutations can affect different genes and pathways, resulting in cells undergoing malignant transformation with multiple functional abnormalities. Clustered mutations influence cancer growth rates, metastatic potential, and drug treatment sensitivity. This summary highlights the various types and characteristics of clustered mutations to understand their associations with carcinogenesis and discusses their potential clinical significance in cancer. As a unique mutation type, clustered mutations may involve genomic instability, DNA repair mechanism defects, and environmental exposures, potentially correlating with responsiveness to immunotherapy. Understanding the characteristics and underlying processes of clustered mutations enhances our comprehension of carcinogenesis and cancer progression, providing new diagnostic and therapeutic approaches for cancer.
摘要:
导致癌症的异常细胞增殖和生长主要由累积基因组突变引起。单基因突变本身并不能完全解释癌症的发病和进展;相反,聚集突变-多个突变的同时发生-被认为是癌症发展和进展的关键.这些突变会影响不同的基因和途径,导致细胞发生多种功能异常的恶性转化。聚集突变会影响癌症的生长速度,转移潜能,和药物治疗敏感性。本摘要强调了聚集突变的各种类型和特征,以了解它们与癌变的关系,并讨论了它们在癌症中的潜在临床意义。作为一种独特的突变类型,聚集突变可能涉及基因组不稳定性,DNA修复机制缺陷,和环境暴露,可能与免疫疗法的反应性相关。了解聚集突变的特征和潜在过程可以增强我们对癌发生和癌症进展的理解,为癌症提供新的诊断和治疗方法。
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