Germline SDHA mutations in children and adults with cancer.
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ABSTRACT:
SUBMITTER: Dubard Gault M
PROVIDER: S-EPMC6071569 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Publications
Germline <i>SDHA</i> mutations in children and adults with cancer.
Dubard Gault Marianne M Mandelker Diana D DeLair Deborah D Stewart Carolyn R CR Kemel Yelena Y Sheehan Margaret R MR Siegel Beth B Kennedy Jennifer J Marcell Vanessa V Arnold Angela A Al-Ahmadie Hikmat H Modak Shakeel S Robson Mark M Shukla Neerav N Roberts Stephen S Vijai Joseph J Topka Sabine S Kentsis Alex A Cadoo Karen K Carlo Maria M Latham Schwark Alicia A Reznik Ed E Dinatale Renzo R Hechtman Jaclyn J Borras Flores Ester E Jairam Sowmaya S Yang Ciyu C Li Yirong Y Bayraktar Erol Can EC Ceyhan-Birsoy Ozge O Zhang Liying L Kohlman Wendy W Schiffman Joshua J Stadler Zsofia Z Birsoy Kivanc K Kung Andrew A Offit Kenneth K Walsh Michael F MF
Cold Spring Harbor molecular case studies 20180801 4
Mutations in succinate dehydrogenase complex genes predispose to familial paraganglioma-pheochromocytoma syndrome (FPG) and gastrointestinal stromal tumors (GIST). Here we describe cancer patients undergoing agnostic germline testing at Memorial Sloan Kettering Cancer Center and found to harbor germline <i>SDHA</i> mutations. Using targeted sequencing covering the cancer census genes, we identified 10 patients with <i>SDHA</i> germline mutations. Cancer diagnoses for these patients carrying <i>S ...[more]
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