We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis.
- Authors
Thompson, Bryony A.; Snow, Angela K.; Koptiuch, Cathryn; Kohlmann, Wendy K.; Mooney, Ryan; Johnson, Sara; Huff, Chad D.; Yu, Yao; Teerlink, Craig C.; Feng, Bing‐Jian; Neklason, Deborah W.; Cannon‐Albright, Lisa A.; Tavtigian, Sean V.
- Abstract
GLO:8DU/01jun20:cge13757-toc-0001.jpg PHOTO (COLOR): . gl Two previous studies link heterozygous germline variants in ribosomal protein S20 ( I RPS20 i , [OMIM: 603682]) to colorectal cancer (CRC). One I RPS20 i frameshift variant (c.147dupA) was reported to segregate with CRC in a large Finnish family.[1] Another I RPS20 i frameshift variant (c.181 182delTT) was identified in a single CRC case during whole exome sequencing of 863 CRC cases of European decent, and a predicted deleterious missense variant in I RPS20 i (c.160G>C, p.Val54Leu) was identified in a different CRC case from the same study.[2] Here we report a novel germline variant in the canonical splice donor dinucleotide of I RPS20 i intron 3 (c.177+1G>A). Predicted loss-of-function variants in I RPS20 i are rare, with only 11 instances observed in 134 187 subjects from the gnomAD v2.1 non-cancer database.[3] RT-PCR targeted to I RPS20 i c.177+1 confirms that the G>A variant interferes with splicing.
- Subjects
RIBOSOMAL proteins; COLORECTAL cancer; HEREDITARY nonpolyposis colorectal cancer; DNA mismatch repair; RIBOSOMAL DNA
- Publication
Clinical Genetics, 2020, Vol 97, Issue 6, p943
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.13757