Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors.

Irma van de Beek,Iris E Glykofridis,Anja Wagner,Dorine T den Toom,Ernie M H F Bongers,Geert J L H van Leenders,Paul C Johannesma,Hanne E J Meijers-Heijboer,Rob M F Wolthuis,Maurice A M van Steensel,Hendrikus J Dubbink,Arjan C Houweling

Molecular genetics & genomic medicine（2023）

引用 1|浏览16

暂无评分

摘要

We hypothesize that a synergistic effect of both mutations caused the unusual phenotype of childhood renal cell carcinoma in this family. This family emphasizes the importance of further genetic testing if a tumor develops at an unexpected young age in an inherited cancer predisposition syndrome.

查看译文

关键词

Birt-Hogg-Dubé syndrome,Li-Fraumeni syndrome,loss of heterozygosity,renal cell carcinoma

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要