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Article

AMBRA1 p.Gln30Arg Mutation, Identified in a Cowden Syndrome Family, Exhibits Hyperproliferative Potential in hTERT-RPE1 Cells.

International journal of molecular sciences - 22 Sept 2022

Revathidevi Sundaramoorthy, Hosomichi Kazuyoshi, Natsume Toyoaki, Nakaoka Hirofumi, Fujito Naoko T, Akatsuka Hisako, Sato Takehito, Munirajan Arasambattu Kannan, Inoue Ituro

Abstract excerpt

Cowden syndrome (CS) is a rare autosomal dominant disorder associated with multiple hamartomatous and neoplastic lesions in various organs. Most CS patients have been found to have germline mutations in the PTEN tumor suppressor. In the present study, we investigated the causative gene of CS in a family of PTEN (phosphatase and tensin homolog deleted on chromosome 10) -negative CS patients. Whole exome sequencing...

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PMID: 36232425
DOI: 10.3390/ijms231911124
PMCID: PMC9570079

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