Improving performance of multigene panels for genomic analysis of cancer predisposition.

doi:10.1038/gim.2015.212

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Article

Improving performance of multigene panels for genomic analysis of cancer predisposition.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2016

Shirts Brian H, Casadei Silvia, Jacobson Angela L, Lee Ming K, Gulsuner Suleyman, Bennett Robin L, Miller Margaret, Hall Sarah A, Hampel Heather, Hisama Fuki M, Naylor Lorraine V, Goetsch Cathleen, Leppig Kathleen, Tait Jonathan F, Scroggins Sheena M, Turner Emily H, Livingston Robert, Salipante Stephen J, King Mary-Claire, Walsh Tom, Pritchard Colin C

Abstract excerpt

PURPOSE: Screening multiple genes for inherited cancer predisposition expands opportunities for cancer prevention; however, reports of variants of uncertain significance (VUS) may limit clinical usefulness. We used an expert-driven approach, exploiting all available information, to evaluate multigene panels for inherited cancer predisposition in a clinical series that included multiple cancer types and complex...

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PMID: 26845104
DOI: 10.1038/gim.2015.212

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