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A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition
P. Zemankova, M. Cerna, K. Horackova, C. Ernst, J. Soukupova, M. Borecka, B. Blümcke, L. Cerna, M. Cerna, V. Curtisova, T. Dolezalova, P. Duskova, L. Dvorakova, L. Foretova, O. Havranek, J. Hauke, E. Hahnen, M. Hodulova, M. Hovhannisyan, L....
Jazyk angličtina Země Nizozemsko
Typ dokumentu časopisecké články
Perzistentní odkaz
https://www.medvik.cz/link/bmc24013729
- MeSH
- checkpoint kinasa 2 * genetika MeSH
- dospělí MeSH
- genetická predispozice k nemoci * genetika MeSH
- introny * genetika MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory prsu * genetika MeSH
- nádory vaječníků genetika MeSH
- prekurzory RNA genetika MeSH
- sestřih RNA * genetika MeSH
- zárodečné mutace * MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika MeSH
- Německo MeSH
Germline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA analysis, introducing a premature stop codon (p.Tyr337PhefsTer37). The variant was found in 21/10,204 (0.21%) Czech FBC patients compared to 1/3250 (0.03%) controls (p = 0.04) and in 4/3639 (0.11%) FBC patients from an independent German dataset. In addition, we found this variant in 5/2966 (0.17%) Czech (but none of the 443 German) ovarian cancer patients, three of whom developed early-onset tumors. Based on these observations, we classified this variant as likely pathogenic.
BIOCEV 1st Faculty of Medicine Charles University Prague Czech Republic
Department of Biochemistry Faculty of Science Charles University Prague Czech Republic
Department of Cancer Epidemiology and Genetics Masaryk Memorial Cancer Institute Brno Czech Republic
Department of Genetics and Microbiology Faculty of Science Charles University Prague Czech Republic
GHC Genetics Prague Czech Republic
Hospital Ceske Budejovice Ceske Budejovice Czech Republic
Institute of Medical Genetics University Hospital Pilsen Pilsen Czech Republic
Citace poskytuje Crossref.org
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