Unknown

Dataset Information

0

Identification of somatic alterations in lipoma using whole exome sequencing.

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 samples. 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.

SUBMITTER: Kanojia D 

PROVIDER: S-EPMC6779901 | biostudies-other | 2019 Oct

REPOSITORIES: biostudies-other

Json Xml
altmetric image

Publications

Identification of somatic alterations in lipoma using whole exome sequencing.

Kanojia Deepika D   Dakle Pushkar P   Mayakonda Anand A   Parameswaran Rajeev R   Puhaindran Mark E ME   Min Victor Lee Kwan VLK   Madan Vikas V   Koeffler Phillip P  

Scientific reports 20191007 1

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 samples. 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 sit  ...[more]

Similar Datasets

Unknown Identification of Somatic Genetic Alterations Using Whole-Exome Sequencing of Uterine Leiomyosarcoma Tumors.
| S-EPMC8226214 | biostudies-literature
Unknown Whole exome sequencing reveals novel somatic alterations in neuroblastoma patients with chemotherapy.
| S-EPMC5816515 | biostudies-other
Unknown Identification of somatic mutations in non-small cell lung carcinomas using whole-exome sequencing.
| S-EPMC3499051 | biostudies-literature
Unknown Identification of somatic mutations using whole-exome sequencing in Korean patients with acute myeloid leukemia.
| S-EPMC5333433 | biostudies-literature
Unknown Analyzing Somatic Genome Rearrangements in Human Cancers by Using Whole-Exome Sequencing.
| S-EPMC4863662 | biostudies-literature
Unknown Detection of somatic copy number alterations in cancer using targeted exome capture sequencing.
| S-EPMC3223606 | biostudies-literature
Unknown CloneCNA: detecting subclonal somatic copy number alterations in heterogeneous tumor samples from whole-exome sequencing data.
| S-EPMC4990858 | biostudies-literature
Unknown Precise Identification of Recurrent Somatic Mutations in Oral Cancer Through Whole-Exome Sequencing Using Multiple Mutation Calling Pipelines.
| S-EPMC8666431 | biostudies-literature
Unknown Identification of Genetic Alterations in Rapid Progressive Glioblastoma by Use of Whole Exome Sequencing.
| S-EPMC10047503 | biostudies-literature
Unknown Efficient identification of somatic mutations in acute myeloid leukaemia using whole exome sequencing of fingernail derived DNA as germline control.
| S-EPMC6137150 | biostudies-literature