Article
A noncoding single-nucleotide polymorphism at 8q24 drives IDH1-mutant glioma formation.
Science (New York, N.Y.) - 7 Oct 2022
Yanchus Connor, Drucker Kristen L, Kollmeyer Thomas M, Tsai Ricky, Winick-Ng Warren, Liang Minggao, Malik Ahmad, Pawling Judy, De Lorenzo Silvana B, Ali Asma, Decker Paul A, Kosel Matt L, Panda Arijit, Al-Zahrani Khalid N, Jiang Lingyan, Browning Jared W L, Lowden Chris, Geuenich Michael, Hernandez J Javier, Gosio Jessica T, Ahmed Musaddeque, Loganathan Sampath Kumar, Berman Jacob, Trcka Daniel, Michealraj Kulandaimanuvel Antony, Fortin Jerome, Carson Brittany, Hollingsworth Ethan W, Jacinto Sandra, Mazrooei Parisa, Zhou Lily, Elia Andrew, Lupien Mathieu, He Housheng Hansen, Murphy Daniel J, Wang Liguo, Abyzov Alexej, Dennis James W, Maass Philipp G, Campbell Kieran, Wilson Michael D, Lachance Daniel H, Wrensch Margaret, Wiencke John, Mak Tak, Pennacchio Len A, Dickel Diane E, Visel Axel, Wrana Jeffrey, Taylor Michael D, Zadeh Gelareh, Dirks Peter, Eckel-Passow Jeanette E, Attisano Liliana, Pombo Ana, Ida Cristiane M, Kvon Evgeny Z, Jenkins Robert B, Schramek Daniel
Abstract excerpt
Establishing causal links between inherited polymorphisms and cancer risk is challenging. Here, we focus on the single-nucleotide polymorphism rs55705857, which confers a sixfold greater risk of isocitrate dehydrogenase (IDH)-mutant low-grade glioma (LGG). We reveal that rs55705857 itself is the causal variant and is associated with molecular pathways that drive LGG. Mechanistically, we show that ...