Article

A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis

2019-12-16

Abstract excerpt

<h4>ABSTRACT</h4> Colorectal cancer (CRC) has a large hereditary component, which is only partially explained by known genetic causes. Recently, variants in ribosomal protein S20 ( RPS20 , [OMIM: 603682]) were identified in a family with familial CRC type X and in a CRC cancer case-control screen. This study describes a novel splice donor variant in RPS20 , NM_001023.3:c.177+1G>A. It segregates with CRC [OMIM:...

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Literature Corpus work: 403e4ab2-51b1-58ad-af84-3c9b44d5bf99
DOI: 10.1101/2019.12.16.877084

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