Objective: To provide evidences for the overlapping mechanistic basis between Parkinson’s disease (PD) and cancer(CA), we explored the common genomic mechanisms between the two disease.

Background: It had been noted that the cancer (CA) risk was much lower in patients with Parkinson’s disease (PD), and was supported by series of epidemiological studies. However, on the other hand, there was positive correlation between PD and some types of cancer including melanoma, non-melanoma and breast cancer according to results from many literatures.

Method: In this study, we performed whole-exome sequencing (WES) analysis of 17 PD patients who also suffer from CA and 16 PD  patients without CA in order to explore the possible genes of these two diseases. Candidate genes were conducted using gene ontology enrichment analysis to identify relevant molecular processes.

Results: 1147 SNPs mutated in at least two PD&CA patients but not in PD patients without CA, were found. Then, they were classified as pathogenic or likely pathogenic according to ACMG and were annotated to 26 genes. There are 54 SNPs in 16 genes that shared by at least 4 PD&CA patients. 8 SNPs could be found in Catalogue of Somatic Mutation In Cancer (COSMIC). It is noted that three patients of PD&CA cohort had LRRK2 variants, p.A419V, p.P755L and p.R2143C.

Conclusion: The study revealed candidate gene profiles in PD&CA patients compared to PD patients without CA. To our knowledge, this is the first study that examines the common genes between PD and CA using WES.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/wes-analysis-of-parkinsons-disease-patients-with-cancer/