دورية أكاديمية
أعرض في EDS

A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition

التفاصيل البيبلوغرافية
العنوان: A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition
المؤلفون: Petra Zemankova, Marta Cerna, Klara Horackova, Corinna Ernst, Jana Soukupova, Marianna Borecka, Britta Blümcke, Leona Cerna, Monika Cerna, Vaclava Curtisova, Tatana Dolezalova, Petra Duskova, Lenka Dvorakova, Lenka Foretova, Ondrej Havranek, Jan Hauke, Eric Hahnen, Miloslava Hodulova, Milena Hovhannisyan, Lucie Hruskova, Marketa Janatova, Maria Janikova, Sandra Jelinkova, Pavel Just, Marcela Kosarova, Monika Koudova, Vera Krutilkova, Eva Machackova, Katerina Matejkova, Renata Michalovska, Adela Misove, Petr Nehasil, Barbora Nemcova, Jan Novotny, Ales Panczak, Pavel Pesek, Ondrej Scheinost, Drahomira Springer, Barbora Stastna, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Eva Tureckova, Kamila Vesela, Zdenka Vlckova, Michal Vocka, Barbara Wappenschmidt, Tomas Zima, Zdenek Kleibl, Petra Kleiblova
المصدر: Breast, Vol 75, Iss , Pp 103721- (2024)
بيانات النشر: Elsevier, 2024.
سنة النشر: 2024
المجموعة: LCC:Neoplasms. Tumors. Oncology. Including cancer and carcinogens
مصطلحات موضوعية: Deep intronic CHEK2 variant, Breast cancer, NGS, RNA analysis, Genetic testing, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
الوصف: 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1532-3080
Relation: http://www.sciencedirect.com/science/article/pii/S0960977624000523; https://doaj.org/toc/1532-3080
DOI: 10.1016/j.breast.2024.103721
URL الوصول: https://doaj.org/article/550a6d19812d49439f776d55972c1a43
رقم الأكسشن: edsdoj.550a6d19812d49439f776d55972c1a43
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:15323080
DOI:10.1016/j.breast.2024.103721