Journal article

Monogenic and polygenic determinants of sarcoma risk: an international genetic study

ML Ballinger, DL Goode, I Ray-Coquard, PA James, G Mitchell, E Niedermayr, A Puri, JD Schiffman, GS Dite, A Cipponi, RG Maki, AS Brohl, O Myklebost, EW Stratford, S Lorenz, SM Ahn, JH Ahn, JE Kim, S Shanley, V Beshay Show all

Lancet Oncology | Published : 2016

Abstract

Background Sarcomas are rare, phenotypically heterogeneous cancers that disproportionately affect the young. Outside rare syndromes, the nature, extent, and clinical significance of their genetic origins are not known. We aimed to investigate the genetic basis for bone and soft-tissue sarcoma seen in routine clinical practice. Methods In this genetic study, we included 1162 patients with sarcoma from four cohorts (the International Sarcoma Kindred Study [ISKS], 966 probands; Project GENESIS, 48 probands; Asan Bio-Resource Center, 138 probands; and kConFab, ten probands), who were older than 15 years at the time of consent and had a histologically confirmed diagnosis of sarcoma, recruited fro..

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