Article
Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk.
Cancer research - 15 Apr 2021
Olafsdottir Thorhildur, Stacey Simon N, Sveinbjornsson Gardar, Thorleifsson Gudmar, Norland Kristjan, Sigurgeirsson Bardur, Thorisdottir Kristin, Kristjansson Arni Kjalar, Tryggvadottir Laufey, Sarin Kavita Y, Benediktsson Rafn, Jonasson Jon G, Sigurdsson Asgeir, Jonasdottir Aslaug, Kristmundsdottir Snaedis, Jonsson Hakon, Gylfason Arnaldur, Oddsson Asmundur, Fridriksdottir Run, Gudjonsson Sigurjon A, Zink Florian, Lund Sigrun H, Rognvaldsson Solvi, Melsted Pall, Steinthorsdottir Valgerdur, Gudmundsson Julius, Mikaelsdottir Evgenia, Olason Pall I, Stefansdottir Lilja, Eggertsson Hannes P, Halldorsson Bjarni V, Thorsteinsdottir Unnur, Agustsson Tomas T, Olafsson Karl, Olafsson Jon H, Sulem Patrick, Rafnar Thorunn, Gudbjartsson Daniel F, Stefansson Kari
Abstract excerpt
The success of genome-wide association studies (GWAS) in identifying common, low-penetrance variant-cancer associations for the past decade is undisputed. However, discovering additional high-penetrance cancer mutations in unknown cancer predisposing genes requires detection of variant-cancer association of ultra-rare coding variants. Consequently, large-scale next-generation sequence data with associated...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.