早发口腔鳞状细胞癌的遗传和表观遗传学特征:对基因组服务不足和代表性不足人群的启示。

IF 1.7 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Genetics and Molecular Biology Pub Date : 2024-08-05 eCollection Date: 2024-01-01 DOI:10.1590/1678-4685-GMB-2024-0036
Daniela Adorno-Farias, Sebastián Morales-Pisón, Guilherme Gischkow-Rucatti, Sonia Margarit, Ricardo Fernández-Ramires
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引用次数: 0

摘要

口腔鳞状细胞癌(OSCC)预后不良,所采用的治疗方法会导致患者身体严重变形。近年来,在一些遗传学代表性不足和服务欠缺的国家,45 岁以下成年患者的 OSCC 发病率有所上升。OSCC病例在年轻人中的增加非常有意义,因为这表明OSCC并无例外,遗传必须发挥重要作用。这一事实与明显的生物学基础并不相关,而且这些患者中的绝大多数并不存在典型的主要风险因素关联。OSCC 是遗传学和表观遗传学改变累积的结果,而这一信息在文献中仍然是零散的,主要集中在年轻群体中。开展全面分析遗传和表观遗传数据的研究对于更好地了解 OSCC 的潜在生物学特性至关重要,因为这些信息对于确定治疗目标具有决定性作用。考虑到智利等发展中国家和拉丁美洲其他国家缺乏基因组数据,我们回顾了 OSCC 遗传和基因组变异的主要种系和体细胞方面。
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Genetic and epigenetic landscape of early-onset oral squamous cell carcinoma: Insights of genomic underserved and underrepresented populations.

Oral squamous cell carcinoma (OSCC) has a poor prognosis and the treatment employed generates significant physical deformity in patients. In recent years, an increase in the incidence of cases of OSCC has been observed in adult patients up to 45 years old in several genetic underrepresented and underserved countries. The increase in OSCC cases in young people is very relevant because it shows that OSCC does not make exceptions and hereditarily must play an important role. This fact has not been associated with an evident biological basis, and a large majority of these patients do not present the classic principal risk factors association. OSCC is the result of accumulation of genetic and epigenetic alterations and this information is still fragmented in the literature, mainly in the young group. Conducting studies with a comprehensive analysis of genetic and epigenetic data is crucial, to provide greater understanding of the underlying biology of OSCC, because this information can be decisive to determine targets for therapeutic treatment. We review the main germline and somatic aspects of genetic and genomic variation in OSCC considering the absence of genomic data from developing countries such as Chile and the rest of Hispano-America.

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来源期刊
Genetics and Molecular Biology
Genetics and Molecular Biology 生物-生化与分子生物学
CiteScore
4.20
自引率
4.80%
发文量
111
审稿时长
3 months
期刊介绍: Genetics and Molecular Biology (formerly named Revista Brasileira de Genética/Brazilian Journal of Genetics - ISSN 0100-8455) is published by the Sociedade Brasileira de Genética (Brazilian Society of Genetics). The Journal considers contributions that present the results of original research in genetics, evolution and related scientific disciplines. Manuscripts presenting methods and applications only, without an analysis of genetic data, will not be considered.
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