Journal article

Genomic characterization of upper-tract urothelial carcinoma in patients with Lynch syndrome

TF Donahue, A Bagrodia, F Audenet, MTA Donoghue, EK Cha, JP Sfakianos, D Sperling, H Al-Ahmadie, M Clendenning, C Rosty, DD Buchanan, M Jenkins, J Hopper, I Winship, AS Templeton, MF Walsh, ZK Stadler, G Iyer, B Taylor, J Coleman Show all

JCO Precision Oncology | AMER SOC CLINICAL ONCOLOGY | Published : 2018

Abstract

Purpose Patients with Lynch syndrome (LS) have a significantly increased risk of developing upper-tract urothelial carcinoma (UTUC). Here, we sought to identify differences in the patterns of mutational changes in LS-associated versus sporadic UTUCs. Patients and Methods We performed targeted sequencing of 17 UTUCs from patients with documented LS-associated germline mutations (LS-UTUCs) using the Memorial Sloan Kettering Integrated Molecular Profiling of Actionable Cancer Targets targeted exon capture assay and compared the results with those from a recently characterized cohort of 82 patients with sporadic UTUC. Results Patients with LS-UTUC were significantly younger, had had less exposur..

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Grants

Awarded by National Cancer Institute (NCI) Cancer Center Support Grant


Awarded by NCI


Awarded by Australasian Colorectal Cancer Family Registry


Awarded by Mayo Clinic Cooperative Family Registry for Colon Cancer Studies


Awarded by Ontario Familial Colorectal Cancer Registry


Funding Acknowledgements

Supported in part by the Pin Down Bladder Cancer Foundation; Cycle for Survival; National Cancer Institute (NCI) Cancer Center Support Grant No. P30 CA008748; NCI Grant No. UM1 CA167551; and cooperative agreements with the following Colon Cancer Family Registry centers: Australasian Colorectal Cancer Family Registry (Grants No. U01 CA074778 and U01/U24 CA097735), Mayo Clinic Cooperative Family Registry for Colon Cancer Studies (Grant No. U01/U24 CA074800), and Ontario Familial Colorectal Cancer Registry (Grant No. U01/U24 CA074783).