Oncogenic effects of germline mutations in lysosomal storage disease genes
Junghoon Shin, Daeyoon Kim, Hyung‐Lae Kim, Murim Choi, Jan O. Korbel, Sung‐Soo Yoon, Youngil Koh, on behalf of the PCAWG Germline Cancer Genome Working Group and the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Network
This study identifies germline mutations in lysosomal storage disease genes as risk factors for cancer, showing increased cancer risk and earlier onset in mutation carriers.
Genetics in Medicine · Jul 24, 2019Peer-reviewedGenetics