Post by Reger Mikaeel

#Early-#onset #colorectal #cancer incidence is #rising globally, and we still don’t have a clear explanation for why. About 30% of patients report an affected first-degree relative, yet only a small fraction carry a known pathogenic germline variant. That means much of the genetic risk is still largely unexplained. In our new paper, “Identification of Novel Susceptibility Genes for Early-Onset Colorectal Cancer Through Germline Rare Variant Burden Testing” (published in #Cancers), we performed gene-based rare-variant burden testing using exome data from 212 cases from the South Australian Young Onset Colorectal Polyp and Cancer Study (#SAYO) and 31,699 unaffected controls from the Simons Foundation Powering Autism Research for Knowledge (#SPARK) cohort. We identified seven novel candidate risk genes - #MEIKIN being the strongest signal-along with STK25, ATG3, and others that showed significant or borderline associations. #MEIKIN is implicated in chromosome segregation and cell cycle regulation, interacting with key proteins that play critical roles in cancer pathways. A huge thank you to all study participants and to my collaborators for making this work possible; especially Xiao Fan, Ruocen Song, Timothy Price, Joanne Young, Bernd Wollnik and Wendy Chung. #Read the paper here: https://lnkd.in/gwBiPN_3 #EOCRC #ColorectalCancer #CancerGenetics #GermlineVariants #ExomeSequencing #Riskfactors #CancerResearch