Article
Cancer-Causative Mutations Occurring in Early Embryogenesis.
Cancer discovery - 1 Apr 2022
Pareja Fresia, Ptashkin Ryan N, Brown David N, Derakhshan Fatemeh, Selenica Pier, da Silva Edaise M, Gazzo Andrea M, Da Cruz Paula Arnaud, Breen Kelsey, Shen Ronglai, Marra Antonio, Zehir Ahmet, Benayed Ryma, Berger Michael F, Ceyhan-Birsoy Ozge, Jairam Sowmya, Sheehan Margaret, Patel Utsav, Kemel Yelena, Casanova-Murphy Jacklyn, Schwartz Christopher J, Vahdatinia Mahsa, Comen Elizabeth, Borsu Laetitia, Pei Xin, Riaz Nadeem, Abramson David H, Weigelt Britta, Walsh Michael F, Hadjantonakis Anna-Katerina, Ladanyi Marc, Offit Kenneth, Stadler Zsofia K, Robson Mark E, Reis-Filho Jorge S, Mandelker Diana
Abstract excerpt
Mosaic mutations in normal tissues can occur early in embryogenesis and be associated with hereditary cancer syndromes when affecting cancer susceptibility genes (CSG). Their contribution to apparently sporadic cancers is currently unknown. Analysis of paired tumor/blood sequencing data of 35,310 patients with cancer revealed 36 pathogenic mosaic variants affecting CSGs, most of which were not detected by prior...
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