引言当基因检测越来越早地进入儿童临床，一个棘手问题正在浮出水面：如果一个孩子因为发育迟缓、癫痫、免疫异常或代谢问题接受测序，却意外发现了癌症易感基因的致病变异，我们该把它当作“无关发现”，还是一次提前干预的机会？5月20日，《Nature ...

A clinical risk scoring system for the prediction of early infection after CAR-T therapy. Effects of the COVID-19 pandemic on staging and treatment patterns in non-small cell lung cancer: A large ...

About The Study: This study identified 5.05% of individuals carrying pathogenic or likely pathogenic variants, suggesting a higher-than-expected prevalence of key cancer susceptibility genes in a ...

RNA is the means of translating the genetic code embedded in DNA into proteins, which serve as enzymes, transporters, ...

Cancer predisposition syndromes caused by germline pathogenic variants (GPV) in adult-onset cancer predisposition genes (aoCPG) are those for which there is low risk of cancer in children, with ...

Please provide your email address to receive an email when new articles are posted on . Prevalence of pathogenic variants in cancer-susceptibility genes appeared independent of personal or family ...

In genetics, one harmful variant can be enough to cause disease—but two can make it far more severe. One notable example is KJ, an infant diagnosed with a rare urea cycle disorder with a grim ...