Article
A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2023
Claire Hou Ying-Chen, Evenson Michael J, Corliss Meagan M, Mahapatra Lily, Aldawood Ali, Carpentieri David F, Chamlin Sarah L, Kulungowski Ann M, Madan-Khetarpal Suneeta, Sebastian Jessica, Pet Mitchell A, Coughlin Carrie C, Willing Marcia C, Pearson Gregory D, Setty Bhuvana A, El-Haffaf Zaki, Cottrell Catherine E, Parikh Bijal A, Krysiak Kilannin, Schroeder Molly C, Heusel Jonathan W, Neidich Julie A, Cao Yang
Abstract excerpt
PURPOSE: RAS genes (HRAS, KRAS, and NRAS) are commonly found to be mutated in cancers, and activating RAS variants are also found in disorders of somatic mosaicism (DoSM). A survey of the mutational spectrum of RAS variants in DoSM has not been performed. METHODS: A total of 938 individuals with suspected DoSM underwent high-sensitivity clinical next-generation sequencing-based testing. We investigated the...
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