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Identification of spliceogenic variants beyond canonical GT-AG splice sites in hereditary cancer genes [Elektronski vir]Šetrajčič Dragoš, Vita ...Pathogenic/likely pathogenic variants in susceptibility genes that interrupt RNA splicing are a well-documented mechanism of hereditary cancer syndromes development. However, if RNA studies are not ... performed, most of the variants beyond the canonical GT-AG splice site are characterized as variants of uncertain significance (VUS). To decrease the VUS burden, we have bioinformatically evaluated all novel VUS detected in 732 consecutive patients tested in the routine genetic counseling process. Twelve VUS that were predicted to cause splicing defects were selected for mRNA analysis. Here, we report a functional characterization of 12 variants located beyond the first two intronic nucleotides using RNAseq in APC, ATM, FH, LZTR1, MSH6, PALB2, RAD51C, and TP53 genes. Based on the analysis of mRNA, we have successfully reclassified 50% of investigated variants. 25% of variants were downgraded to likely benign, whereas 25% were upgraded to likely pathogenic leading to improved clinical management of the patient and the family members.Source: International journal of molecular sciences [Elektronski vir]. - ISSN 1422-0067 (Vol. 23, no. 13, 2022, str. 7446-1-7446-14)Type of material - e-articlePublish date - 2022Language - englishCOBISS.SI-ID - 114023427
Author
Šetrajčič Dragoš, Vita |
Strojnik, Ksenija |
Klančar, Gašper, 1988- |
Škerl, Petra, doktorica biologije |
Stegel, Vida |
Blatnik, Ana, 9.8.1980- |
Banjac, Marta |
Krajc, Mateja |
Novaković, Srdjan
Topics
dedni raki |
sekvencioniranje RNA |
spajanje |
geni |
hereditary cancer |
RNA sequencing |
spliceogenic
Author | Šetrajčič Dragoš, Vita ... |
Title | Identification of spliceogenic variants beyond canonical GT-AG splice sites in hereditary cancer genes [Elektronski vir] |
Publication date | 2022-07-04 |
COBISS.SI-ID | 114023427 |
Publication version in repository | Publisher's version |
Publication licence | Creative Commons Attribution 4.0 International |
Embargo | Immediate publication for public |
Project(s) from which the publication was funded
Title | Acronym | Project ID | Funder |
---|---|---|---|
Družine s povišano ali visoko ogroženostjo za raka: svetovanje, odkrivanje mutacij in preprečevanje raka | P3-0352-2018 |
Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije |
Files that belong to the publication
Link |
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https://www.mdpi.com/1422-0067/23/13/7446 |
https://dirros.openscience.si/IzpisGradiva.php?id=15458 |
Costs of publication
Cost type | Total cost | Payments |
---|---|---|
APC – Article Processing Charge | 2497.11 € |
2497.11 € : Onkološki inštitut Ljubljana |
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Year | Impact factor | Edition | Category | Classification | ||||
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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DRS, in which the journal is indexed
Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
---|---|
Šetrajčič Dragoš, Vita | 51870 |
Strojnik, Ksenija | 51869 |
Klančar, Gašper, 1988- | 34575 |
Škerl, Petra, doktorica biologije | 28388 |
Stegel, Vida | 23343 |
Blatnik, Ana, 9.8.1980- | 32428 |
Banjac, Marta | 55278 |
Krajc, Mateja | 27594 |
Novaković, Srdjan | 08007 |
Source: Personal bibliographies
and: SICRIS
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