CHEK2不是Li-Fraumeni综合症基因：是时候更新公共资源了。
CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources.
发表日期：2023 Aug 03
作者：
Cristina Fortuno, Marcy Richardson, Tina Pesaran, Amal Yussuf, Carolyn Horton, Paul A James, Amanda B Spurdle
来源：
JOURNAL OF MEDICAL GENETICS
摘要：
尽管有出版的证据与之相反，CHEK2基因与疾病的关系在公共资源（如OMIM和MONDO）中仍被列为“Li-Fraumeni综合征2”，这引起了Li-Fraumeni综合征（LFS）临床专家的不满。在这里，我们将在Ambry遗传学进行多基因面板测试的2095个CHEK2和248个TP53致病性变体携带者的个人癌症特征与15135个无已知致病性变体的个体进行了比较。我们采用一个组内逻辑回归的方法，结果突出显示了TP53和CHEK2致病性变体携带者的临床表现之间的明显差异，并且没有证据表明CHEK2与任何与TP53相关的核心LFS癌症有关联。这些发现强调了将“Li-Fraumeni综合征2”作为CHEK2相关疾病的命名进行更换的必要性，从而减少潜在的混淆。© 作者（或其雇主）2023年。未经商业再利用。请查看权利和权限。由BMJ出版。
The gene-disease relationship for CHEK2 remains listed as 'Li-Fraumeni syndrome 2' in public resources such as OMIM and MONDO, despite published evidence to the contrary, causing frustration among Li-Fraumeni syndrome (LFS) clinical experts. Here, we compared personal cancer characteristics of 2095 CHEK2 and 248 TP53 pathogenic variant carriers undergoing multigene panel testing at Ambry Genetics against 15 135 individuals with no known pathogenic variant. Our results from a within-cohort logistic regression approach highlight obvious differences between clinical presentation of TP53 and CHEK2 pathogenic variant carriers, with no evidence of CHEK2 being associated with any of the TP53-related core LFS cancers. These findings emphasise the need to replace 'Li-Fraumeni syndrome 2' as the CHEK2-associated disease name, thereby limiting potential confusion.© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.