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Article

Oncogenic effects of germline variants in lysosomal storage disease genes.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2019

Shin Junghoon, Kim Daeyoon, Kim Hyung-Lae, Choi Murim, Koh Youngil, Yoon Sung-Soo

Abstract excerpt

PURPOSE: Clinical and experimental evidence has suggested pathobiological crosstalk between lysosomal storage diseases (LSDs) and cancer. We aimed to elucidate the association between germline variants in LSD genes and cancer. METHODS: We performed aggregate rare variant association analysis of potentially pathogenic variants (PPVs) in 42 LSD genes and >30 histological types of cancer using genome sequencing data...

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PMID: 31341245
DOI: 10.1038/s41436-019-0588-9

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