Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.
Andrew S BrohlRajesh PatidarClesson E TurnerXinyu WenYoung K SongJun S WeiKathleen A CalzoneJaved KhanPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2017)
Our findings reported here have important clinical implications for patients and families affected by Ewing sarcoma. Genetic counseling should be considered for patients and families affected by this disease to take advantage of existing risk management strategies. Our study also highlights the importance of germline sequencing for patients enrolled in precision-medicine protocols.Genet Med advance online publication 26 January 2017.