A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis
Bryony A. Thompson, Angela K. Snow, Cathryn Koptiuch, Wendy K. Kohlmann, Ryan Mooney, Sara Johnson, Chad Daniel Huff, Yao Yu, Craig Carl Teerlink, Bing Feng, Deborah Wood Neklason, Lisa Cannon‐Albright, Sean V. Tavtigian
The paper identifies a novel RPS20 splice donor variant linked to familial CRC and polyposis, showing aberrant splicing and supporting a haploinsufficiency mechanism.
Clinical Genetics · May 18, 2020Peer-reviewedGenetics