{"title":"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。","authors":"Daniela Adorno-Farias, Sebastián Morales-Pisón, Guilherme Gischkow-Rucatti, Sonia Margarit, Ricardo Fernández-Ramires","doi":"10.1590/1678-4685-GMB-2024-0036","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47Suppl 1 Suppl 1","pages":"e20240036"},"PeriodicalIF":1.7000,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11309523/pdf/","citationCount":"0","resultStr":"{\"title\":\"Genetic and epigenetic landscape of early-onset oral squamous cell carcinoma: Insights of genomic underserved and underrepresented populations.\",\"authors\":\"Daniela Adorno-Farias, Sebastián Morales-Pisón, Guilherme Gischkow-Rucatti, Sonia Margarit, Ricardo Fernández-Ramires\",\"doi\":\"10.1590/1678-4685-GMB-2024-0036\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":12557,\"journal\":{\"name\":\"Genetics and Molecular Biology\",\"volume\":\"47Suppl 1 Suppl 1\",\"pages\":\"e20240036\"},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2024-08-05\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11309523/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genetics and Molecular Biology\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1590/1678-4685-GMB-2024-0036\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genetics and Molecular Biology","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1590/1678-4685-GMB-2024-0036","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
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.
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.