Article
A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition.
Breast (Edinburgh, Scotland) - 1 Jun 2024
Zemankova Petra, Cerna Marta, Horackova Klara, Ernst Corinna, Soukupova Jana, Borecka Marianna, Blümcke Britta, Cerna Leona, Cerna Monika, Curtisova Vaclava, Dolezalova Tatana, Duskova Petra, Dvorakova Lenka, Foretova Lenka, Havranek Ondrej, Hauke Jan, Hahnen Eric, Hodulova Miloslava, Hovhannisyan Milena, Hruskova Lucie, Janatova Marketa, Janikova Maria, Jelinkova Sandra, Just Pavel, Kosarova Marcela, Koudova Monika, Krutilkova Vera, Machackova Eva, Matejkova Katerina, Michalovska Renata, Misove Adela, Nehasil Petr, Nemcova Barbora, Novotny Jan, Panczak Ales, Pesek Pavel, Scheinost Ondrej, Springer Drahomira, Stastna Barbora, Stranecky Viktor, Subrt Ivan, Tavandzis Spiros, Tureckova Eva, Vesela Kamila, Vlckova Zdenka, Vocka Michal, Wappenschmidt Barbara, Zima Tomas, Kleibl Zdenek, Kleiblova Petra
Abstract excerpt
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%)...
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