Article
Inherited DNA repair gene mutations detected by tumor next generation sequencing in urinary tract cancers.
Familial cancer - 1 Oct 2017
Gupta Sumati, Greenberg Samantha, Grimmett Jade, Gaston David, Agarwal Neeraj, Lowrance William, Schiffman Joshua, Kohlmann Wendy
Abstract excerpt
Interpretation of next-generation sequencing (NGS) of tumor tissue in patients with advanced Urinary Tract Cancer (UTC) is performed to guide treatment selection but may reveal pathogenic variants with germline implications. We identified three patients with UTC with unexpected germline DNA repair gene mutations. Specific testing for these was prompted by the detection of these mutations by tumor NGS. All three...
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