A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis
| Autor: | Yao Yu, Bryony A. Thompson, Sara Johnson, Sean V. Tavtigian, Deborah W. Neklason, Craig C. Teerlink, Bing Jian Feng, Angela K. Snow, Chad D. Huff, Cathryn Koptiuch, Wendy Kohlmann, Ryan Mooney, Lisa A. Cannon-Albright |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Proband Adult Male Ribosomal Proteins Colorectal cancer 030105 genetics & heredity Biology 03 medical and health sciences Ribosomal protein Genetics medicine Humans splice Genetic Predisposition to Disease Gene Genetics (clinical) Cancer Middle Aged medicine.disease Phenotype digestive system diseases Pedigree 030104 developmental biology Female RNA Splice Sites Haploinsufficiency Colorectal Neoplasms |
| Zdroj: | Clinical genetics. 97(6) |
| ISSN: | 1399-0004 |
| Popis: | 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: 114500] and polyposis [HP: 0200063] within the proband’s family. Reverse transcription-polymerase chain reaction (RT-PCR) confirms the variant results in two aberrantly-spliced transcripts that are absent in controls. The location of the novel RPS20 variant is near two previously-reported truncating RPS20 variants associated with CRC. DNA from colon adenocarcinoma showed no evidence of loss-of-heterozygosity, supporting a haploinsufficiency or dominant negative disease mechanism. These findings support designation of RPS20 as a CRC predisposition gene, and expand the phenotypic spectrum of RPS20 truncating variants to include polyposis. |
| Databáze: | OpenAIRE |
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