ARDC Research Link Australia

ORCID Profile
Orcid icon. 0000-0002-3318-0357

Current Organisations
Royal College of Surgeons in Ireland , Royal College of Surgeons of England , National University of Singapore , Oxford Brookes University , Pushpagiri Medical College Hospital , National University Hospital

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Publications

Publication

Identification of somatic alterations in lipoma using whole exome sequencing

Publisher: Springer Science and Business Media LLC

Date: 07-10-2019

DOI: 10.1038/S41598-019-50805-W

Abstract: Lipomas are benign fatty tumors with a high prevalence rate, mostly found in adults but have a good prognosis. Until now, reason for lipoma occurrence not been identified. We performed whole exome sequencing to define the mutational spectrum in ten lipoma patients along with their matching control s les. We presented genomic insight into the development of lipomas, the most common benign tumor of soft tissue. Our analysis identified 412 somatic variants including missense mutations, splice site variants, frameshift indels, and stop gain/lost. Copy number variation analysis highlighted minor aberrations in patients. Kinase genes and transcriptions factors were among the validated mutated genes critical for cell proliferation and survival. Pathway analysis revealed enrichment of calcium, Wnt and phospholipase D signaling in patients. In conclusion, whole exome sequencing in lipomas identified mutations in genes with a possible role in development and progression of lipomas.