Article
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2020
Nassar Amin H, Abou Alaiwi Sarah, AlDubayan Saud H, Moore Nicholas, Mouw Kent W, Kwiatkowski David J, Choueiri Toni K, Curran Catherine, Berchuck Jacob E, Harshman Lauren C, Nuzzo Pier V, Chanza Nieves Martinez, Van Allen Eliezer, Esplin Edward D, Yang Shan, Callis Thomas, Garber Judy E, Rana Huma Q, Sonpavde Guru
Abstract excerpt
PURPOSE: To date, there has not been a large, systematic evaluation of the prevalence of germline risk variants in urothelial carcinoma (UC). METHODS: We evaluated the frequency of germline pathogenic and likely pathogenic variants in 1038 patients with high-risk UC who underwent targeted clinical germline testing. Case-control enrichment analysis was performed to screen for pathogenic variant enrichment in 17...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.