Germline

Marianne Dubard Gault, Diana Mandelker, Deborah DeLair, Carolyn R Stewart, Yelena Kemel, Margaret R Sheehan, Beth Siegel, Jennifer Kennedy, Vanessa Marcell, Angela Arnold, Hikmat Al-Ahmadie, Shakeel Modak, etc.

Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4):a002584.

PMID: 30068732

Abstract:

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 SDHA mutations. Using targeted sequencing covering the cancer census genes, we identified 10 patients with SDHA germline mutations. Cancer diagnoses for these patients carrying SDHA germline mutations included neuroblastoma (n = 1), breast (n = 1), colon (n = 1), renal (n = 1), melanoma and uterine (n = 1), prostate (n = 1), endometrial (n = 1), bladder (n = 1), and gastrointestinal stromal tumor (GIST) (n = 2). Immunohistochemical staining and assessment of patient tumors for second hits and loss of heterozygosity in SDHA confirmed GIST as an SDHA-associated tumor and suggests SDHA germline mutations may be a driver in neuroblastoma tumorigenesis.

Chemicals Related in the Paper:

Catalog Number	Product Name	Structure	CAS Number	Price
CS353758	N,N′-(Propane-13C3)-1,2-diyldibenzamide-1-15N			Price

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