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Identification of novel genetic variants predisposing to familial oral squamous cell carcinomas

机译:鉴定新型遗传变异性易患家族性口腔鳞状细胞癌

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Oral squamous cell carcinoma (OSCC) is a common subtype of head and neck squamous cell carcinoma (HNSCC), but the pathogenesis underlying familial OSCCs is unknown. Here, we analyzed whole-genome sequences of a family with autosomal dominant expression of oral tongue cancer and identified proto-oncogenes VAV2 and IQGAP1 as the primary factors responsible for oral cancer in the family. These two genes are also frequently mutated in sporadic OSCCs and HNSCCs. Functional analysis revealed that the detrimental variants target tumorigenesis-associated pathways, thus confirming that these novel genetic variants help to establish a predisposition to familial OSCC.? The Author(s) 2019.
机译:口腔鳞状细胞癌(OSCC)是头部和颈部鳞状细胞癌(HNSCC)的常见亚型,但家族性OSCC底层的发病机制是未知的。在这里,我们分析了具有口腔舌癌的常染色体显性表达的家庭的全基因组序列,并将ProTo-oncoCogenes VAV2和IQGAP1确定为负责家庭口腔癌症的主要因素。这两个基因也经常在散发性OSCC和HNSCCS中突变。功能分析表明,有害的变体靶向肿瘤内酯相关途径,从而证实这些新的遗传变异有助于为家族性OSCC建立易感性。?作者2019年。

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