Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes
Jung Kim, Gina M. Ney, Megan N. Frone, Jeremy S. Haley, Uyenlinh L. Mirshahi, Esteban Astiazarán-Symonds, Mariya Shandrina, Gretchen M. Urban, H. Shanker Rao, Rick Stahl, Alicia M. Golden, Marielle E. Yohe, Andrea M. Gross, Yi Ding, David J. Carey, , Douglas R. Stewart
This study quantifies cancer risk and prevalence in adults with germline pathogenic variants in RASopathy genes using genomic data from three biobanks.
medRxiv · Oct 9, 2024 · PreprintGenetic & Genomic Medicine